Lamin Type A
Lamin Type B
Lamins
Nuclear Lamina
Nuclear Envelope
Progeria
An abnormal congenital condition, associated with defects in the LAMIN TYPE A gene, which is characterized by premature aging in children, where all the changes of cell senescence occur. It is manifested by premature greying; hair loss; hearing loss (DEAFNESS); cataracts (CATARACT); ARTHRITIS; OSTEOPOROSIS; DIABETES MELLITUS; atrophy of subcutaneous fat; skeletal hypoplasia; elevated urinary HYALURONIC ACID; and accelerated ATHEROSCLEROSIS. Many affected individuals develop malignant tumors, especially SARCOMA.
Thymopoietins
Two closely related polypeptides (molecular weight 7,000) isolated from the thymus gland. These hormones induce the differentiation of prothymocytes to thymocytes within the thymus. They also cause a delayed impairment of neuromuscular transmission in vivo and are therefore believed to be the agent responsible for myasthenia gravis.
Muscular Dystrophy, Emery-Dreifuss
A heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The disease is characterized by MUSCULAR ATROPHY; MUSCLE WEAKNESS; CONTRACTURE of the elbows; ACHILLES TENDON; and posterior cervical muscles; with or without cardiac features. There are several INHERITANCE PATTERNS including X-linked (X CHROMOSOME), autosomal dominant, and autosomal recessive gene mutations.
Nuclear Proteins
Cell Nucleus
Within a eukaryotic cell, a membrane-limited body which contains chromosomes and one or more nucleoli (CELL NUCLEOLUS). The nuclear membrane consists of a double unit-type membrane which is perforated by a number of pores; the outermost membrane is continuous with the ENDOPLASMIC RETICULUM. A cell may contain more than one nucleus. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
Lipodystrophy
A collection of heterogenous conditions resulting from defective LIPID METABOLISM and characterized by ADIPOSE TISSUE atrophy. Often there is redistribution of body fat resulting in peripheral fat wasting and central adiposity. They include generalized, localized, congenital, and acquired lipodystrophy.
Lipodystrophy, Familial Partial
Inherited conditions characterized by the partial loss of ADIPOSE TISSUE, either confined to the extremities with normal or increased fat deposits on the face, neck and trunk (type 1), or confined to the loss of SUBCUTANEOUS FAT from the limbs and trunk (type 2). Type 3 is associated with mutation in the gene encoding PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR GAMMA.
Aging, Premature
Nuclear Matrix
The residual framework structure of the CELL NUCLEUS that maintains many of the overall architectural features of the cell nucleus including the nuclear lamina with NUCLEAR PORE complex structures, residual CELL NUCLEOLI and an extensive fibrogranular structure in the nuclear interior. (Advan. Enzyme Regul. 2002; 42:39-52)
Protein Prenylation
Caspase 6
Subcellular localization and partial purification of prelamin A endoprotease: an enzyme which catalyzes the conversion of farnesylated prelamin A to mature lamin A. (1/572)
The nuclear lamina protein, lamin A is produced by proteolytic cleavage of a 74 kDa precursor protein, prelamin A. The conversion of this precursor to mature lamin A is mediated by a specific endoprotease, prelamin A endoprotease. Subnuclear fractionation indicates that the prelamin A endoprotease is localized at the nuclear membrane. The enzyme appears to be an integral membrane protein, as it can only be removed from the nuclear envelope with detergent. It is effectively solubilized by the detergent n-octyl-beta-D-glucopyranoside and can be partially-purified (approximately 1200-fold) by size exclusion and cation exchange (Mono S) chromatography. Prelamin A endoprotease from HeLa cells was eluted from Mono S with 0.3 M sodium chloride as a single peak of activity. SDS-PAGE analysis of this prelamin A endoprotease preparation shows that it contains one major polypeptide at 65 kDa and smaller amounts of a second 68 kDa polypeptide. Inhibition of the enzyme activity in this preparation by specific serine protease inhibitors is consistent with the enzyme being a serine protease. (+info)Heart to heart: from nuclear proteins to Emery-Dreifuss muscular dystrophy. (2/572)
Emery-Dreifuss muscular dystrophy has some remarkably specific features, with only cardiac and skeletal tissues being affected. Equally remarkably, the disease is caused by mutations in widely expressed genes for the nuclear membrane/lamina proteins, emerin and lamin A/C. How do mutations in proteins at the heart of the cell lead to stiff joints and sudden heart failure? This and related questions are the subject of this review. (+info)Dynamics of the nuclear lamina as monitored by GFP-tagged A-type lamins. (3/572)
The behavior of chimeric proteins consisting of A-type lamins and green fluorescent protein (GFP) was studied to investigate the localization and dynamics of nuclear lamins in living cells. Cell line CHO-K1 was transfected with cDNA constructs encoding fusion proteins of lamin A-GFP, lamin Adelta10-GFP, or lamin C-GFP. In the interphase nucleus lamin-GFP fluorescence showed a perinuclear localization and incorporation into the lamina for all three constructs. Our findings show for the first time that the newly discovered lamin A 10 protein is localized to the nuclear membrane. The GFP-tagged lamins were processed and behaved similarly to the endogenous lamin molecules, at least in cells that expressed physiological levels of the GFP-lamins. In addition to the typical perinuclear localization, in the majority of transfected cells each individual A-type lamin-GFP revealed an extensive collection of branching intra- and trans-nuclear tubular structures, which showed a clear preference for a vertical orientation. Time-lapse studies of 3-D reconstructed interphase cells showed a remarkable stability in both number and location of these structures over time, while the lamina showed considerable dynamic movements, consisting of folding and indentation of large parts of the lamina. Fluorescence recovery after bleaching studies revealed a low protein turnover of both tubular and lamina-associated lamins. Repetitive bleaching of intranuclear areas revealed the presence of an insoluble intranuclear fraction of A-type lamins. Time-lapse studies of mitotic cells showed that reformation of the lamina and the tubular structures consisting of A-type lamins did not occur until after cytokinesis was completed. (+info)Decreased and aberrant nuclear lamin expression in gastrointestinal tract neoplasms. (4/572)
BACKGROUND: Altered expression of lamins A/C and B1, constituent proteins of the nuclear lamina, may occur during differentiation and has also been reported in primary lung cancer. AIMS: To examine the expression of these proteins in gastrointestinal neoplasms. PATIENTS: Archival human paraffin wax blocks and frozen tissue from patients undergoing surgical resection or endoscopic biopsy. METHODS: Immunohistochemistry and western blotting using polyclonal antisera against A type lamins and lamin B1. RESULTS: The expression of lamin A/C was reduced and was frequently undetectable by immunohistochemistry in all primary colon carcinomas and adenomas, and in 7/8 primary gastric cancers. Lamin B1 expression was reduced in all colon cancers, 16/18 colonic adenomas, and 6/8 gastric cancers. Aberrant, cytoplasmic labelling with both antibodies occurred in some colonic cancers and around one third of colonic adenomas. Cytoplasmic lamin A/C expression was detected in 3/8 gastric cancers. Lamin expression was reduced in gastric dysplasia, but not intestinal metaplasia, atrophy, or chronic gastritis. Lamin expression was low in carcinomas of oesophagus, prostate, breast, and uterus, but not pancreas. CONCLUSIONS: Reduced expression of nuclear lamins, sometimes together with aberrant, cytoplasmic immunoreactivity is common in gastrointestinal neoplasms. Altered lamin expression may be a biomarker of malignancy in the gastrointestinal tract. (+info)Colocalization of intranuclear lamin foci with RNA splicing factors. (5/572)
The lamins form a fibrous network underlying the inner nuclear membrane termed the nuclear lamina. In order to gain insights into the role of lamins in nuclear organization, we have characterized a monoclonal antibody (LA-2H10) raised against recombinant rat lamin A that labels nuclei in a speckled pattern in all cells of unsynchronized populations of HeLa and rat F-111 fibroblast cells, unlike the typical nuclear periphery staining by another monoclonal antibody to lamin A, LA-2B3. In immunolocalization studies the lamin A speckles or foci were found to colocalize with the RNA splicing factors SC-35 and U5-116 kD, but not with p80 coilin found in coiled bodies. Lamin B1 was also associated with these foci. These foci dispersed when cells entered mitosis and reformed during anaphase. The differential reactivity of LA-2H10 and LA-2B3 was retained after nuclei were extracted with detergents, nucleases and salt to disrupt interactions of lamins with chromatin and other nuclear proteins. Using deletion fragments of recombinant lamin A, the epitope recognized by LA-2H10 was located between amino acids 171 and 246. Our findings are consistent with a structural role for lamins in supporting nuclear compartments containing proteins involved in RNA splicing. (+info)Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. (6/572)
BACKGROUND: Inherited mutations cause approximately 35 percent of cases of dilated cardiomyopathy; however, few genes associated with this disease have been identified. Previously, we located a gene defect that was responsible for autosomal dominant dilated cardiomyopathy and conduction-system disease on chromosome 1p1-q21, where nuclear-envelope proteins lamin A and lamin C are encoded by the LMNA (lamin A/C) gene. Mutations in the head or tail domain of this gene cause Emery-Dreifuss muscular dystrophy, a childhood-onset disease characterized by joint contractures and in some cases by abnormalities of cardiac conduction during adulthood. METHODS: We evaluated 11 families with autosomal dominant dilated cardiomyopathy and conduction-system disease. Sequences of the lamin A/C exons were determined in probands from each family, and variants were confirmed by restriction-enzyme digestion. The genotypes of the family members were ascertained. RESULTS: Five novel missense mutations were identified: four in the alpha-helical-rod domain of the lamin A/C gene, and one in the lamin C tail domain. Each mutation caused heritable, progressive conduction-system disease (sinus bradycardia, atrioventricular conduction block, or atrial arrhythmias) and dilated cardiomyopathy. Heart failure and sudden death occurred frequently within these families. No family members with mutations had either joint contractures or skeletal myopathy. Serum creatine kinase levels were normal in family members with mutations of the lamin rod but mildly elevated in some family members with a defect in the tail domain of lamin C. CONCLUSIONS: Genetic defects in distinct domains of the nuclear-envelope proteins lamin A and lamin C selectively cause dilated cardiomyopathy with conduction-system disease or autosomal dominant Emery-Dreifuss muscular dystrophy. Missense mutations in the rod domain of the lamin A/C gene provide a genetic cause for dilated cardiomyopathy and indicate that this intermediate filament protein has an important role in cardiac conduction and contractility. (+info)Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. (7/572)
BACKGROUND: Dilated cardiomyopathy is a form of heart muscle disease characterized by impaired systolic function and ventricular dilation. Familial transmission of the disease is frequently observed, and genetic heterogeneity is indicated by clinical and morphological variability in the disease phenotype. In the family MDDC1 reported here, the disease phenotype is severe and characterized by an autosomal dominant pattern of transmission. In addition, the majority of affected family members show signs of mild skeletal muscle involvement. METHODS AND RESULTS: On the basis of the clinical observation of both cardiac and skeletal muscle abnormalities in the MDDC1 family, the lamin A/C gene was examined in this kindred. Coding regions were polymerase chain reaction-amplified from genomic DNA and sequenced. A single nucleotide deletion was identified within exon 6, and all affected individuals were found to be heterozygous for this deletion. CONCLUSIONS: Heterozygosity for a single nucleotide deletion in exon 6 of lamin A/C segregates with both the cardiac and skeletal abnormalities observed in the MDDC1 family. (+info)DNase I hypersensitive sites and transcriptional activation of the lamin A/C gene. (8/572)
The lamin A/C gene encodes subtypes of nuclear lamins, which are involved in nuclear envelope formation, and was recently identified as the responsible gene for the autosomal dominant Emery-Dreifuss muscular dystrophy. Expression of the lamin A/C gene is developmentally regulated but little is known about the regulatory mechanism. Previous studies of lamin A/C expression suggested that the chromatin structure is important for the regulation of its expression. To elucidate the regulatory mechanism of the lamin A/C gene expression, we have analysed the functional region of the mouse lamin A/C promoter and the chromatin structure of the gene in terms of nucleosome structure and DNase I hypersensitivity. Our analyses revealed disruption of the nucleosome array at the promoter region and the presence of multiple DNase I hypersensitive sites (HSs) which were specifically associated with expression of the lamin A/C gene. Inclusion of a segment which contained the HSs in a lamin A/C promoter-luciferase reporter plasmid showed no effect on the transfected promoter activity in transient expression assays. On the other hand, substantial enhancement of the promoter activity was detected when the transfected DNA was stably integrated into the genome, suggesting the importance of the HSs in the regulation of lamin A/C expression. (+info) Progeria is a rare genetic disorder that causes accelerated aging in children. It is also known as Hutchinson-Gilford Progeria Syndrome (HGPS) and affects approximately 1 in 4 million newborns worldwide. The condition is caused by a mutation in the LMNA gene, which codes for the lamin A protein that plays a crucial role in maintaining the structure of the nucleus and regulating cellular aging processes.
The main symptoms of progeria include:
1. Rapid growth and development during the first two years of life, followed by slowed growth and loss of fat and muscle mass.
2. A distinctive facial appearance, including a small face, thin nose, and narrow eyes.
3. Wasting of the skin, hair, and joints.
4. Cardiovascular disease, such as hardening of the arteries and heart problems.
5. Osteoporosis and joint degeneration.
6. Respiratory problems, including frequent colds and difficulty breathing.
7. Eye problems, including cataracts and glaucoma.
8. Increased risk of stroke and other cardiovascular complications.
Progeria is a fatal condition, with most children dying from heart disease or stroke before the age of 21. However, some individuals with progeria have been known to live into their 30s or 40s due to advances in medical care and technology. There is currently no cure for progeria, but researchers are working to develop new treatments to slow down the progression of the disease and improve the quality of life for those affected.
Emery-Dreifuss muscular dystrophy is a rare form of muscular dystrophy that affects males and females equally. It is characterized by progressive weakness and wasting of the muscles, particularly in the shoulders, upper arms, and legs. The disorder is caused by mutations in the DMD gene, which codes for the protein dystrophin.
The symptoms of Emery-Dreifuss muscular dystrophy usually become apparent during childhood or adolescence and may include:
* Muscle weakness and wasting
* Delayed motor development
* Frequent falls
* Muscle cramps
* Heart problems (cardiomyopathy)
* Cognitive impairment
The disorder is inherited in an X-linked recessive pattern, meaning that the mutated gene is located on the X chromosome and affects males more severely than females. Females can be carriers of the disorder and may have mild symptoms or be unaffected.
Emery-Dreifuss muscular dystrophy is diagnosed through a combination of clinical evaluation, genetic testing, and muscle biopsy. There is no cure for the disorder, but various treatments can help manage the symptoms and slow its progression. These may include:
* Physical therapy to maintain muscle strength and function
* Medications to control muscle spasms and cramps
* Heart medications to manage cardiomyopathy
* Assistive devices such as braces or wheelchairs
The progression of Emery-Dreifuss muscular dystrophy can vary widely among individuals, with some experiencing a rapid decline in muscle function while others may remain relatively stable for many years. Life expectancy is typically reduced due to the risk of complications such as heart failure and respiratory failure.
In summary, Emery-Dreifuss muscular dystrophy is a rare and debilitating genetic disorder that affects the muscles and can lead to progressive weakness, wasting, and loss of motor function. While there is no cure for the disorder, various treatments can help manage its symptoms and slow its progression. Early diagnosis and ongoing medical management are essential to improve quality of life and reduce the risk of complications.
Lipodystrophy is a rare condition where there is an abnormal distribution of fat in the body, leading to a variety of symptoms such as muscle wasting, weakness, and metabolic problems. There are several types of lipodystrophy, each with different causes and characteristics.
Lipodystrophy can be caused by genetic mutations, hormonal imbalances, or certain medications. It can also be associated with other medical conditions such as metabolic disorders, endocrine problems, and neurological diseases.
The symptoms of lipodystrophy can vary depending on the type and severity of the condition. Common symptoms include:
1. Muscle wasting and weakness
2. Fat redistribution to certain areas of the body (such as the face, neck, and torso)
3. Metabolic problems such as insulin resistance and high blood sugar
4. Hormonal imbalances
5. Abnormal body shape and proportions
6. Poor wound healing
7. Easy bruising and bleeding
8. Increased risk of infections
9. Joint pain and stiffness
10. Mood changes such as depression, anxiety, and irritability
Treatment for lipodystrophy depends on the underlying cause of the condition. Medications, lifestyle modifications, and surgery may be used to manage symptoms and improve quality of life. In some cases, lipodystrophy can be a sign of an underlying medical condition that needs to be treated.
Lipodystrophy can have a significant impact on an individual's quality of life, affecting their physical appearance, self-esteem, and ability to perform daily activities. It is important to seek medical attention if symptoms persist or worsen over time. With proper diagnosis and treatment, individuals with lipodystrophy can improve their symptoms and overall health.
Lipodystrophy, Familial Partial: A rare inherited disorder characterized by a loss of fat tissue (lipodystrophy) that is limited to certain areas of the body such as the arms, legs, and buttocks. The condition typically becomes apparent in adulthood and is associated with a variety of symptoms including muscle wasting, weakness, and fatigue. There is no specific treatment for familial partial lipodystrophy, and management of the disorder focuses on addressing related symptoms and complications such as metabolic dysfunction and mobility issues. Also known as Congenital Lipodystrophy or Familial Partial Lipodystrophy (FPLD).
[Note: This definition is a summary and an explanation of the term 'Lipodystrophy, Familial Partial' in the medical field.]
Premature aging is a condition where an individual experiences signs and symptoms of aging at an earlier age than what is considered normal. It can manifest in various ways, such as wrinkled skin, gray hair, frail bones, and decreased cognitive function. Premature aging can be caused by a variety of factors, including genetics, environmental toxins, poor nutrition, and certain medical conditions.
There are several types of premature aging, including:
1. Progeria: This is a rare genetic condition that causes accelerated aging in children, resulting in a shortened life span.
2. Hutchinson-Gilford progeria syndrome: This is the most common form of progeria, which affects approximately 1 in 4 million children worldwide. Children with this condition typically die before reaching their teenage years due to complications such as heart attack or stroke.
3. Wiedemann-Steiner syndrome: This is a rare genetic disorder that causes premature aging, including wrinkled skin, thinning hair, and joint stiffness.
4. Werner syndrome: This is a rare genetic disorder that affects approximately 1 in 250,000 individuals worldwide. It is characterized by premature aging, including grey hair, wrinkled skin, and a high risk of developing cancer and other age-related diseases.
5. Telomere shortening: Telomeres are the protective caps at the end of chromosomes that shorten with each cell division. Premature telomere shortening can lead to accelerated aging and an increased risk of age-related diseases.
6. Chronic stress: Prolonged exposure to chronic stress can lead to premature aging, including changes in the brain, skin, and immune system.
7. Poor nutrition: A diet lacking essential nutrients can lead to premature aging, including vitamin D deficiency, which is associated with an increased risk of osteoporosis and other age-related diseases.
8. Lack of exercise: Physical inactivity can contribute to premature aging, including decreased muscle mass, bone density, and cognitive function.
9. Smoking: Cigarette smoking is a significant risk factor for premature aging, including wrinkles, age spots, and an increased risk of cancer and cardiovascular disease.
10. Alcohol consumption: Excessive alcohol consumption can lead to premature aging, including liver damage, heart disease, and certain types of cancer.
While many of these factors are beyond our control, there are steps we can take to reduce their impact and promote healthy aging. These include maintaining a balanced diet, exercising regularly, getting enough sleep, managing stress, not smoking, and limiting alcohol consumption. Additionally, staying up-to-date on preventative healthcare measures, such as regular check-ups and screenings, can help identify and address any potential health issues before they become more serious.
Lamin B1
Vertebrate lamins consist of two types, A and B. This gene encodes one of the two B type proteins, B1. Lamin B, along with ... Furukawa K, Kondo T (1998). "Identification of the lamina-associated-polypeptide-2-binding domain of B-type lamin". Eur. J. ... 1997). "A- and B-type lamins are differentially expressed in normal human tissues". Histochem. Cell Biol. 107 (6): 505-17. doi: ... During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are ...
Lamin
As with A-type lamins, there are multiple isoforms of B-type lamins, the most common being lamin B1 and lamin B2. They are ... and B-type lamins have found that the positions of introns/exons in B-type lamins have been conserved in A-type lamins, with ... This suggests that the common ancestor of these lamin types was a B-type lamin. Due to their properties as a type of IF protein ... of B-type lamins across multiple species have found evidence that supports that B-type lamins existed before A-type lamins. ...
Lamin B receptor
Ye Q, Callebaut I, Pezhman A, Courvalin JC, Worman HJ (June 1997). "Domain-specific interactions of human HP1-type chromodomain ... Lamin-B receptor is a protein, and in humans, it is encoded by the LBR gene. The protein encoded by this gene belongs to the ... Lamin B receptor has been shown to interact with CBX3 and CBX5. LBR also interacts with long non-coding RNA XIST in mouse cells ... lamin+B+receptor at the US National Library of Medicine Medical Subject Headings (MeSH) v t e (Articles with short description ...
Lamin B2
... is a protein that in humans is encoded by the LMNB2 gene. It is the second of two type B nuclear lamins, and it is ... Lamin B receptor Barraquer-Simons disease Pelger-Huet anomaly Lamin+B at the US National Library of Medicine Medical Subject ... Model organisms have been used in the study of Lamin B2 function. A conditional knockout mouse line, called Lmnb2tm1a(KOMP)Wtsi ...
Intermediate filament
B-type lamins are present in every cell. B type lamins, lamin B1 and B2, are expressed from the LMNB1 and LMNB2 genes on 5q23 ... A-type lamins are only expressed following gastrulation. Lamin A and C are the most common A-type lamins and are splice ... Most types are cytoplasmic, but one type, Type V is a nuclear lamin. Unlike microtubules, IF distribution in cells show no good ... "type V" nuclear lamin. In addition, a few other diverse types of eukaryotes have lamins, suggesting an early origin of the ...
MLIP (gene)
Muscular LMNA interacting protein has a number of aliases including MLIP, C6orf142, CIP and Muscle-enriched A-type Lamin- ... muscle-enriched A-type lamin-interacting protein) leads to cardiac hyperactivation of Akt/mammalian target of rapamycin (mTOR) ... "Identification of a novel muscle A-type lamin-interacting protein (MLIP)". The Journal of Biological Chemistry. 286 (22): 19702 ... It interacts with the nuclear envelope proteins lamin A/C, which is what led to its discovery. It also interacts with Islet1 ...
Thymopoietin
Furukawa K, Kondo T (Feb 1998). "Identification of the lamina-associated-polypeptide-2-binding domain of B-type lamin". ... Furukawa K, Kondo T (Feb 1998). "Identification of the lamina-associated-polypeptide-2-binding domain of B-type lamin". ... "Lamina-associated polypeptide 2alpha binds intranuclear A-type lamins". Journal of Cell Science. 113 Pt 19 (19): 3473-84. doi: ... "Lamina-associated polypeptide 2alpha binds intranuclear A-type lamins". Journal of Cell Science. 113 Pt 19 (19): 3473-84. doi: ...
ANKRD2
... has been shown to be involved in the progression of some types of cancers, such as osteosarcoma and head and neck ... Lamin A and prelamin A Akt. GRCh38: Ensembl release 89: ENSG00000165887 - Ensembl, May 2017 GRCm38: Ensembl release 89: ... is preferentially expressed in type 1 skeletal muscle fibers and is markedly induced by denervation". Lab. Invest. 82 (5): 645- ... skeletal muscles tended towards a more slower fiber type distribution, with longer resting sarcomere length, decreased fiber ...
Senescence
"A progeroid syndrome in mice is caused by defects in A-type lamins". Nature. 423 (6937): 298-301. Bibcode:2003Natur.423..298M. ... While there may be some validity to the idea that for various types of specific damage detailed below that are by-products of ... With respect to specific types of chemical damage caused by metabolism, it is suggested that damage to long-lived biopolymers, ... Horvath S (2013). "DNA methylation age of human tissues and cell types". Genome Biology. 14 (10): R115. doi:10.1186/gb-2013-14- ...
MAP1LC3B
A large pool of LC3 is present in the nucleus of a variety of different cell types. In response to starvation, nuclear LC3 is ... Nuclear LC3 interacts with lamin B1, and participates in the degradation of nuclear lamina. LC3 is also enriched in nucleoli ... "Post-translational modifications of three members of the human MAP1LC3 family and detection of a novel type of modification for ...
Progeria
In progeria, the inability to adequately repair DNA damages due to defective A-type lamin may cause aspects of premature aging ... lamin A, along with lamin B1, lamin B2, and lamin C, makes up the nuclear lamina, which provides shape and stability to the ... Cao, Henian; Hegele, Robert A. (1 January 2000). "Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type ... It is caused by mutations in the LMNA (lamin A protein) gene on chromosome 1; the mutated form of lamin A is commonly known as ...
Neurofilament
Type V consists of the nuclear lamins, and type VI consists of the protein nestin. The type IV intermediate filament genes all ... Types I and II are the keratins which are expressed in epithelia. Type III contains the proteins vimentin, desmin, peripherin ... The type III intermediate filament subunit, vimentin, is expressed in developing neurons and a few very unusual neurons in the ... The type VI intermediate filament protein Nestin is expressed in developing neurons and glia. Nestin is considered a marker of ...
Nuclear lamina
The lamins are type V intermediate filaments which can be categorized as either A-type (lamin A, C) or B-type (lamin B1, B2) ... LA are considered homologous to lamin A and LIII as a B-type lamin. A fourth type exists and is germ cell specific. In the ... the only lamins present are B-type lamins. In further stages, the expression pattern of lamin B1 decreases and there is a ... In the latter case as well it is the B-type lamins that are expressed in the early stages. Lamin B1 reaches the highest ...
DNA damage theory of aging
A-type lamins promote genetic stability by maintaining levels of proteins that have key roles in the DNA repair processes of ... "A dual role for A-type lamins in DNA double-strand break repair". Cell Cycle. 10 (15): 2549-60. doi:10.4161/cc.10.15.16531. PMC ... The initial study of this type, by Hart and Setlow, showed that the ability of skin fibroblasts of seven mammalian species to ... Numerous studies of this type have indicated that oxidative damage to DNA is particularly important. The loss of expression of ...
ZMPSTE24
"A dual role for A-type lamins in DNA double-strand break repair". Cell Cycle. 10 (15): 2549-60. doi:10.4161/cc.10.15.16531. PMC ... It is involved in the processing of lamin A. Defects in the ZMPSTE24 gene lead to similar laminopathies as defects in lamin A, ... As shown by Liu et al., lack of Zmpste24 prevents lamin A formation from its precursor farnesyl-prelamin A. Lack of ZMPSTE24 ...
Progeroid syndromes
In HGPS, the inability to adequately repair DNA damages due to defective A-type lamin may cause aspects of premature aging (see ... There are eight types of XP (XP-A through XP-G), plus a variant type (XP-V), all categorized based on the genetic cause. XP can ... A-type lamins promote genetic stability by maintaining levels of proteins which have key roles in NHEJ and HR. Mouse cells ... "A dual role for A-type lamins in DNA double-strand break repair". Cell Cycle. 10 (15): 2549-60. doi:10.4161/cc.10.15.16531. PMC ...
Disposable soma theory of aging
A-type lamins promote genetic stability by maintaining levels of proteins that have key roles in the repair processes of non- ... "A dual role for A-type lamins in DNA double-strand break repair". Cell Cycle. 10 (15): 2549-2560. doi:10.4161/cc.10.15.16531. ... Patients with HGPS have cellular defects, specifically in the lamin proteins, which regulate the organization of the lamina and ... Additionally, these individuals have much lower incidences[spelling?] of age-related diseases such as type 2 diabetes and ...
LMNA-related congenital muscular dystrophy
A-type lamins promote genetic stability by maintaining levels of proteins that have key roles in non-homologous end joining and ... It is located on the long arm of the chromosome 1 (1q21-q22) and encodes the proteins lamin A and lamin C. These are structural ... "A dual role for A-type lamins in DNA double-strand break repair". Cell Cycle. 10 (15): 2549-2560. doi:10.4161/cc.10.15.16531. ... Lamin A/C congenital muscular dystrophy (CMD) (L-CMD, congenital muscular dystrophy associated to the LMNA gene or Emery- ...
Laminopathy
Antibodies against lamins are detected in the sera of some individuals with autoimmune diseases. A-type lamins promote genetic ... Most lamin B mutations appear to be lethal with mutations in lamin B1 causing death at birth in mice. In 2006, lamin B2 ... The inability to adequately repair DNA damages when A-type lamins are defective is likely responsible for some of the aspects ... Cao H, Hegele RA (2002). "Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial ...
Evolution of ageing
In HGPS, the inability to adequately repair DNA damages due to defective A-type lamin may cause aspects of laminopathy-based ... HGPS is caused by a point mutation in the gene that encodes lamin A protein. Lamin A promotes genetic stability by maintaining ... Those who have Werner syndrome are at an increased risk for cataracts, type 2 diabetes, different types of cancers, and ... "A dual role for A-type lamins in DNA double-strand break repair". Cell Cycle. 10 (15): 2549-2560. doi:10.4161/cc.10.15.16531. ...
Crescentin
Kollmar, M (29 May 2015). "Polyphyly of nuclear lamin genes indicates an early eukaryotic origin of the metazoan-type ... The DNA sequence of the protein has sections very similar to the eukaryotic keratin and lamin proteins, mostly involving the ... is that crescentin lacks certain consensus sequence elements at the ends of the rod domain which are conserved in animal lamin ...
Prenylation
The CaaX motif is found at the COOH-terminus of proteins, such as lamins or Ras. The motif consists of a cysteine (C), two ... Taylor J, Reid T, Terry K, Casey P, Beese L (2003). "Structure of mammalian protein geranylgeranyltransferase type-I". EMBO J. ... There are at least 3 types of sites that are recognized by prenylation enzymes. ... Farnesylation is a type of prenylation, a post-translational modification of proteins by which an isoprenyl group is added to a ...
Fluorescence-lifetime imaging microscopy
"The truncated prelamin A in Hutchinson-Gilford progeria syndrome alters segregation of A-type and B-type lamin homopolymers" ( ... has also been used to show the interaction of both types of nuclear intermediate filament proteins lamins A and B1 in distinct ...
Inner nuclear membrane protein
González, Jose M.; Andrés, Vicente (2011). "Synthesis, transport and incorporation into the nuclear envelope of A-type lamins ... As mutations in lamins cause the autosomal dominant form of Emery-Dreifuss muscular dystrophy, and lamins and emerin are known ... Lamins and chromatin found at the nuclear envelope are organised with the assistance of proteins embedded in the INM. INM ... For example, lamin B receptor, lamina-associated polypeptide 1 and lamina-associated polypeptide 2 are targets for different ...
TOR1AIP1
"The inner nuclear membrane protein LAP1 forms a native complex with B-type lamins and partitions with spindle-associated ... More commonly known as lamina associated polypeptide 1 (LAP1), it is a type II integral membrane protein that resides in the ... Foisner R, Gerace L (1993). "Integral membrane proteins of the nuclear envelope interact with lamins and chromosomes, and ...
Nuclear prelamin A recognition factor
The only nuclear proteins known to be prenylated in mammalian cells are prelamin A- and B-type lamins. Prelamin A is ... translationally modified cysteine residue is removed from prelamin A when it is endoproteolytically processed into mature lamin ...
Cell nucleus
"Mistargeting of B-type lamins at the end of mitosis: implications on cell survival and regulation of lamins A/C expression". ... The nuclear lamina is composed mostly of lamin proteins. Like all proteins, lamins are synthesized in the cytoplasm and later ... The destruction of the lamin networks is controlled by specialized apoptotic proteases called caspases, which cleave the lamin ... Lamins found on the cytosolic face of the membrane, such as emerin and nesprin, bind to the cytoskeleton to provide structural ...
Nestin (protein)
... a type VI intermediate filament protein. Limited co-assembly in vitro to form heteropolymers with type III vimentin and type IV ... Nestin is of high molecular weight (240kDa) with a terminus greater than 500 residues (compared to cytokeratins and lamins with ... Nestin is expressed by many types of cells during development, although its expression is usually transient and does not ... In mixtures, nestin preferentially co-assembles with purified vimentin or the type IV IF protein internexin to form heterodimer ...
Barrier to autointegration factor 1
2002). "Distinct functional domains in emerin bind lamin A and DNA-bridging protein BAF". J. Cell Sci. 114 (Pt 24): 4567-73. ... "Both the structure and DNA binding function of the barrier-to-autointegration factor contribute to reconstitution of HIV type 1 ... "The Barrier-to-Autointegration Factor Is a Component of Functional Human Immunodeficiency Virus Type 1 Preintegration Complexes ...
Abdul Majid Giaka
In July 1991, he added the information that the other accused Libyan, Lamin Khalifah Fhimah, was the custodian of these ... that Fhimah collected a brown Samsonite type suitcase which he took through Customs, that then he met the two accused who were ...
Familial partial lipodystrophy
Six types (1-6) have been described. Types 1-5 are inherited in an autosomal dominant fashion. Type 1 (Kobberling variety, FPL1 ... Mutations associated with FPL have been reported in LMNA (lamin A/C), PPARG (PPARγ), AKT2 (AKT serine/threonine kinase 2), ... Type 3 is due to mutations in the PPARG gene. It is rare with approximately 30 cases reported to date. It is similar to type 2 ... Type 4 is due to mutations in the PLIN1 gene. It is rare with only a small number of cases reported. Fat loss tends to affect ...
Histone H2B
... is modified by a combination of several types of post-translational modifications. These modifications affect the ... "Prepatterning of differentiation-driven nuclear lamin A/C-associated chromatin domains by GlcNAcylated histone H2B". Genome ... have different types and numbers of post-translational modifications, and are more or less stable than regular histone H2B. All ...
Code of Personal Status in Tunisia
Proclaimed on March 20, 1956, then promulgated on August 13 of the same year (Muharram 6, 1376) by Lamin Bey's beylical decree ... "to progressively suppress all previous types of teaching, unadapted, hybrid or outdated." (speech delivered by Bourguiba at ...
Christian influences on the Islamic world
The angels, hovering over the mother, correspond to a Christian type, while the three women, who came to visit the mother, ... BRILL, 1989 Newbigin, Lesslie; Sanneh, Lamin; Taylor, Jenny (1998). Faith and power: Christianity and Islam in 'secular' ...
Walpurgis Night
Sanneh, Lamin; McClymond, Michael (23 May 2016). The Wiley Blackwell Companion to World Christianity. John Wiley & Sons. p. 80 ... The university organizes student choir singing, as well as other types of entertainment and a speech by the president of the ... The Church of Satan that Anton LaVey founded on the last night of April 1966 - Walpurgisnacht, to pagan types - is pretty ...
Abuko Nature Reserve
The area was first accorded some measure of protection in 1916 when the Lamin Stream, which flows through the reserve, was ... Other mammals include antelope, squirrel, porcupine, African palm civets, mongooses, galagos, and several types of rodents, ...
Atrial fibrillation
Mutation of the lamin AC gene is also associated with fibrosis of the atria that can lead to atrial fibrillation.[citation ... It is a type of supraventricular tachycardia. High blood pressure and valvular heart disease are the most common modifiable ... Four types of genetic disorder are associated with atrial fibrillation: Familial AF as a monogenic disease Familial AF ... "FDA approves Xarelto to prevent stroke in people with common type of abnormal heart rhythm". FDA. Archived from the original on ...
Mitosis
Certain types of cancer can arise from such mutations. Mitosis occurs only in eukaryotic cells. Prokaryotic cells, which lack a ... At the beginning of prometaphase in animal cells, phosphorylation of nuclear lamins causes the nuclear envelope to disintegrate ... In relation to the forms of mitosis, closed intranuclear pleuromitosis seems to be the most primitive type, as it is more ... In histopathology, the mitosis rate (mitotic count or mitotic index) is an important parameter in various types of tissue ...
Stem cell marker
Below is a list of genes/protein products that can be used to identify various types of stem cells, or functional assays that ... CK19, Cytokeratin 19, K19) Kit L-selectin (CD62L) Lamin A/C Lewis X antigen (Le(X)) LeX Lgr5 Lrp4 MCM2 MCSP Metallothionein (MT ... Constantinescu D, Gray HL, Sammak PJ, Schatten GP, Csoka AB (January 2006). "Lamin A/C expression is a marker of mouse and ... monophosphate in urines and leukocytes and the type of human leukemias". Cancer Research. 41 (8): 3222-7. PMID 6265079. Boulter ...
Nuclear matrix
Such structures are nuclear lamina, which consist of proteins termed lamins which can be also found in the nuclear matrix. For ... The nuclear matrix composition on human cells has been proven to be cell type and tumor specific. It has been clearly ...
Clergy
All types of Judaism except Orthodox Judaism allow women as well as men to be ordained as rabbis and cantors. The leadership of ... The Blackwell Companion to Eastern Christianity (John Wiley & Sons, 2010) Sanneh, Lamin. "The origins of clericalism in West ... Types of clerics are distinguished from offices, even when the latter are commonly or exclusively occupied by clerics. A Roman ... An archbishop is not a distinct type of cleric, but is simply a bishop who occupies a particular position with special ...
Histone acetyltransferase
Gcn5, p300/CBP, and TAFII250 are some examples of type A HATs that cooperate with activators to enhance transcription. Type B ... The human premature aging syndrome Hutchinson Gilford progeria is caused by a mutational defect in the processing of lamin A, a ... Elp3 is an example of a type A HAT found in yeast. It is part of the RNA polymerase II holoenzyme and plays a role in ... Type A HATs are located in the nucleus and are involved in the regulation of gene expression through acetylation of nucleosomal ...
Mende people
The bells on the necklaces are of the type believed capable of being heard by spirits, ringing in both worlds, that of the ... Lamin Massaquoi, Sierra Leonean football player. Mustapha Sama, Sierra Leonean football player. Gibrilla Woobay, Sierra Leonean ...
Sierra Leone
Several Junior army officers led by Sergeant Mohamed Lamin Bangura were identified as being behind the coup plot. The coup plot ... Pages using infobox country or infobox former country with the symbol caption or type parameters, Articles containing ... Some of those executed include Colonel Kahota Dumbuya, Major Yayah Kanu and Sergeant Mohamed Lamin Bangura. Several prominent ...
List of MeSH codes (D12.776.660)
... lamin type a MeSH D12.776.660.650.875.750 - lamin type b The list continues at List of MeSH codes (D12.776) § MeSH D12.776.664 ...
Dilated cardiomyopathy
It is a type of cardiomyopathy, a group of diseases that primarily affects the heart muscle. The diagnosis may be supported by ... Other cytoskeletal proteins involved in DCM include α-cardiac actin, desmin, and the nuclear lamins A and C. Mitochondrial ... Five-year survival rate is about 50%. It can also occur in children and is the most common type of cardiomyopathy in this age ... "Types of Cardiomyopathy". NHLBI. 22 June 2016. Retrieved 10 November 2017. Ferri FF (2017). Ferri's Clinical Advisor 2018 E- ...
Soninke people
ISBN 978-0313-27-918-8. Sanneh, Lamin. "Futa Jallon and the Jakhanke Clerical Tradition. Part I: The Historical Setting." ... FGM practice among Soninke has included the most dangerous Type III mutilations. Breakfast foods include fonde, porridge made ...
Romanov Empire (micronation)
Pages using infobox country or infobox former country with the symbol caption or type parameters, Micronations, States and ... Minister of Justice Modou Lamin Saidykhan - Minister of Foreign Affairs Prince Ilya Bakov - Minister of Investment The ...
Florent Cuvelier
Despite these setbacks he signed a new one-year contract in March 2017, with manager Jon Whitney saying "he's the type of ... Lamin Jagne, Alex Kenyon, Andrew Tutte, Andrew Fleming and Aaron Wildig. However he featured in only one EFL Trophy game for ...
TM7SF2
Holmer L, Pezhman A, Worman HJ (1999). "The human lamin B receptor/sterol reductase multigene family". Genomics. 54 (3): 469-76 ... "Construction of a 1.2-Mb sequence-ready contig of chromosome 11q13 encompassing the multiple endocrine neoplasia type 1 (MEN1) ...
A-type lamin-linked lipodystrophies - PubMed
A-type lamin-linked lipodystrophies Corinne Vigouroux et al. Novartis Found Symp. 2005. ... At the genetic level, LMNA mutations concern in most cases the type-A lamin C-terminal domain and more than 80% are ... Patients with familial partial lipodystrophy of the Dunnigan type due to a LMNA R482W mutation show muscular and cardiac ...
Lamin B1 resource search results | Abcam
Browse our 4 Lamin B1 resource search results. Abcam provides a large range of protocols, pathways, webinars, guides, articles ... By product type. Primary antibodies. Secondary antibodies. ELISA and Matched Antibody Pair Kits. Cell and tissue imaging tools ... By product type. Proteomics tools. Agonists, activators, antagonists and inhibitors. Cell lines and Lysates. Multiplex miRNA ...
Lamin A-dependent nuclear defects in human aging - PubMed
Whether lamin A plays any role in normal aging is unknown. We show that the same molecular mechanism responsible for HGPS is ... Mutations in the nuclear structural protein lamin A cause the premature aging syndrome Hutchinson-Gilford progeria (HGPS). ... RT-PCR analysis of wild-type and HGPS fibroblasts using (C) primers detecting both the full-length (F) and the truncated (T) ... Δ50 lamin A is not detected in mouse fibroblasts. A fourth protein consistent with Δ10 lamin A (15) is also detected. Equal ...
A-type lamins involvement in transport and implications in cancer? | Nucleus;13(1): 221-235, 2022 12. | MEDLINE
A-type lamins involvement in transport and implications in cancer? A-type lamins involvement in transport and implications in ... A-type lamins; cancer; lamin A/C; membrane diffusion; nuclear trafficking; nuclear transport; nucleoporins; nucleus; size ... combined with well documented dysregulation of lamins in many cancers, suggests that lamins and nuclear transport may play a ... Nuclear lamins and transport are intrinsically linked, but their relationship is yet to be fully unraveled. A multitude of ...
The gene structure of Xenopus nuclear lamin A: a model for the evolution of A-type from B-type lamins by exon shuffling. :: MPG...
... a model for the evolution of A-type from B-type lamins by exon shuffling. ... The gene structure of Xenopus nuclear lamin A: ... of A-type from B-type lamins by exon shuffling. Chromosoma, 101 ... The gene structure of Xenopus nuclear lamin A: a model for the evolution of A-type from B-type lamins by exon shuffling. ... Stick, R. (1992). The gene structure of Xenopus nuclear lamin A: a model for the evolution ...
NIH Guide: THE BIOLOGICAL BASIS OF HUTCHINSON-GILFORD SYNDROME (HGS): RELATIONSHIP TO MUTATIONS IN THE LAMIN A/C GENE (LMNA)...
This policy applies to all investigator-initiated new (type 1), competing continuation (type 2), competing supplement, or any ... lamin C is a splice variant and lacks the carboxyl terminus present in lamin A. At least 6 other rare human disorders due to ... the function of lamins in the nuclear envelope. RESEARCH OBJECTIVES Lamin A is a major component of the nuclear envelope, so ... Missense mutations in the rod domain of the lamin A/C gene as causes of dilated myopathy and conduction system disease. N. Engl ...
Genome-wide analysis links emerin to neuromuscular junction activity in Caenorhabditis elegans
Lamin Type A / genetics * Membrane Proteins / genetics* * Muscular Dystrophy, Emery-Dreifuss / genetics* ... A well-known example is Emery-Dreifuss muscular dystrophy, which is caused by mutations in the human lamin A/C and emerin genes ... Results: Here we determine genome-wide DNA association profiles of two nuclear envelope components, lamin/LMN-1 and emerin/EMR- ...
Linear Ironwood 3118 Premium Wood Prints Laminate
Emery-Dreifuss Muscular Dystrophy Workup: Laboratory Studies, Other Tests, Procedures
Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy. Hum Mol Genet. 2000 ... Proteins that bind A-type lamins: integrating isolated clues. J Cell Sci. 2004 Mar 1. 117:979-87. [QxMD MEDLINE Link]. ... Myosin adenosine triphosphatase (ATPase) stains may show type I fiber smallness or type I fiber predominance. ... Unusual type of benign x-linked muscular dystrophy. J Neurol Neurosurg Psychiatry. 1966 Aug. 29(4):338-42. [QxMD MEDLINE Link] ...
MedlinePlus: Genes: L
Emery-Dreifuss Muscular Dystrophy Medication
Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy. Hum Mol Genet. 2000 ... Proteins that bind A-type lamins: integrating isolated clues. J Cell Sci. 2004 Mar 1. 117:979-87. [QxMD MEDLINE Link]. ... Unusual type of benign x-linked muscular dystrophy. J Neurol Neurosurg Psychiatry. 1966 Aug. 29(4):338-42. [QxMD MEDLINE Link] ... Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy. Neurology. 2002 Aug 27. 59(4):620-3. [ ...
Biomarkers Search
7. Lamin A/C gene: sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding ... Heterogeneity of nuclear lamin A mutations in Dunnigan-type familial partial lipodystrophy.. Hegele RA; Cao H; Anderson CM; ... A-type lamin-linked lipodystrophies.. Vigouroux C; Capeau J. Novartis Found Symp; 2005; 264():166-77; discussion 177-82, 227-30 ... A case of familial partial lipodystrophy caused by a novel lamin A/C (LMNA) mutation in exon 1 (D47N).. Kutbay NO; Yurekli BS; ...
p16INK4A-deficiency predicts response to combined HER2 and CDK4/6 inhibition in HER2+ breast cancer brain metastases | Nature...
Tumor cells were then determined to be Lamin B1 positive if Lamin B1 , 3.3, cleaved Caspase-3 , 1.9. Tumor cells were ... Cell typing was performed according to the following rules. Tumor cells were identified by cytokeratin expression , 2.5. ... Freund, A., Laberge, R. M., Demaria, M. & Campisi, J. Lamin B1 loss is a senescence-associated biomarker. Mol. Biol. Cell 23, ... 2d). Because Lamin B1 expression can be lost by cells undergoing apoptosis as well as senescence, our analysis suggests that ...
maturity-onset diabetes of the young - Ontology Report - Rat Genome Database
lamin A/C. ISO. ClinVar Annotator: match by term: Mason type diabetes. ClinVar. PMID:11102973 PMID:29237675 PMID:29952368 PMID: ... lipase C, hepatic type. ISO. ClinVar Annotator: match by term: Type 2 diabetes mellitus. ClinVar. PMID:1671786 PMID:1883393 ... leucine rich repeat and fibronectin type III domain containing 1. ISO. ClinVar Annotator: match by term: Type 2 diabetes ... ClinVar Annotator: match by term: MODY, TYPE 13 , ClinVar Annotator: match by term: Maturity-onset diabetes of the young type ...
Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy | Journal of Medical Genetics
Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy. Hum Mol Genet2000;9: ... The a-type lamins. Nuclear structural proteins as a focus for muscular dystrophy and cardiovascular diseases. Trends Cardiovasc ... Lamin A/C gene: sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding ... Group 1 (BSCL2) was defined by the presence of mutations in the seipin gene, while group 2 contains all other types of BSCL. ...
MedlinePlus - Search Results for: "Adult-onset" autosomal dominant demyelinating leukodystrophy
Microglia Cross Module Antibody Sampler Kit | Cell Signaling Technology
... hydroxylate/Axl/IQGAP1/KI-67/HS1/ASC mouse/Lamin A/C (full-length) in the research area. ... Lamin A/C (4C11) Mouse mAb detects endogenous levels of lamin A and lamin C proteins. It also reacts with the larger fragments ... Previous work identifying markers of specific brain cell types using RNA-seq has shown HS1 and ASC/TMS1 to be useful and ... Lamin A/C is cleaved by caspase-6 and serves as a marker for caspase-6 activation. The cleavage of lamins results in nuclear ...
MeSH Browser
Lamin A Lamin A-C Type A Lamins Registry Number. 0. Previous Indexing. Nuclear Proteins (1991-2002). Public MeSH Note. 2003; ... Lamin Type A Preferred Concept UI. M0089366. Registry Number. 0. Scope Note. A subclass of developmentally regulated lamins ... Lamin A-C Narrower Concept UI. M000642786. Registry Number. 0. Terms. Lamin A-C Preferred Term Term UI T000897943. Date03/30/ ... Lamin A Narrower Concept UI. M000642785. Registry Number. 0. Terms. Lamin A Preferred Term Term UI T119369. LexicalTag NON. ...
Research - Forbes Porter Lab | NICHD - Eunice Kennedy Shriver National Institute of Child Health and Human Development
Niemann-Pick type C. Niemann-Pick disease, type C1 (NPC) is a neurodegenerative disorder characterized by progressive ... LBR has both lamin B-binding and sterol Δ14-reductase domains. Although only a minor sterol abnormality has been reported, it ... Our data support the notion that HEM dysplasia and ichthyosis result from impaired lamin B receptor function rather than from ... Others have shown that mutations of the lamin B receptor (LBR) cause HEM (hydrops, ectopic calcification, moth-eaten skeletal) ...
Biomarkers Search
The truncated prelamin A in Hutchinson-Gilford progeria syndrome alters segregation of A-type and B-type lamin homopolymers. ... Partial cleavage of A-type lamins concurs with their total disintegration from the nuclear lamina during apoptosis.. Broers JL ... Lamin B1 is required for mouse development and nuclear integrity.. Vergnes L; Péterfy M; Bergo MO; Young SG; Reue K. Proc Natl ... 1. Lamin b1 polymorphism influences morphology of the nuclear envelope, cell cycle progression, and risk of neural tube defects ...
LMNB2
- Early...
Vertebrate lamins consist of two types, A and B. Mutations in this gene are associated with acquired partial lipodystrophy. [ ... From NCBI Gene: This gene encodes a B type nuclear lamin. The nuclear lamina consists of a two-dimensional matrix of proteins ... During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are ... The lamin family of proteins make up the matrix and are highly conserved in evolution. ...
Hutchinson-Gilford progeria syndrome: MedlinePlus Genetics
Gonzalez JM, Pla D, Perez-Sala D, Andres V. A-type lamins and Hutchinson-Gilford progeria syndrome: pathogenesis and therapy. ... The LMNA gene provides instructions for making a protein called lamin A. This protein plays an important role in determining ... Ghosh S, Zhou Z. Genetics of aging, progeria and lamin disorders. Curr Opin Genet Dev. 2014 Jun;26:41-6. doi: 10.1016/j.gde. ... Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome. Proc ...
Publications
Type A insulin resistance syndrome revealing a novel lamin A mutation » Diabetes 54 (2005) 1873-1878. ... 2019). « Challenges of Gene Therapy for the Treatment of Glycogen Storage Diseases Type I and Type III. » Hum Gene Ther 30(10 ... Mas, A., Montane, J., Anguela, X.M., Munoz, S., Douar, A.M., Riu, E., Otaegui, P. and Bosch, F.: « Reversal of type 1 diabetes ... Riviere, C., Danos, O. and Douar, A.M.: « Long term expression and repeated administration of AAV type 1, 2 and 5 vectors in ...
Ryan Nitta's Profile | Stanford Profiles
Mutations in the LMNA gene, which encodes all A-type lamins, including lamin A and lamin C, cause a variety of tissue-specific ... A-type lamins, predominantly lamins A and C, are nuclear intermediate filaments believed to act as scaffolds for assembly of ... Reintroduction of lamin A, lamin C, or pRB restores p16(ink4a)-responsiveness to Lmna(-/-) cells. An array of lamin A mutants, ... We find that the loss of A-type lamin expression results in marked destabilization of pRB. This reduction in pRB renders cells ...
Type of Grants | The African Capacity Building Foundation
ACBF supports capacity building programs and projects in Africa with three types of investments: ... Type of Grants. ACBF supports capacity building programs and projects in Africa with three types of investments:. *Financing of ... Lamin Momodou MANNEH, Director, UNDP Regional Service Centre for Africa Africa needs ACBF as much, probably more now, than at ...
Lamin A/C depletion enhances DNA damage-induced stalled replication fork arrest - Fingerprint
- Research Profiles at...
Leukodystrophy | National Institute of Neurological Disorders and Stroke
The disorder is caused by mutations in the LMNB1 gene which is responsible for making lamin B1 protein. Lamin B1 is a ... All types of volunteers are needed-those who are healthy or may have an illness or disease-of all different ages, sexes, races ... Each type of leukodystrophy is caused by a defect in one of the genes that control the structure or amount of one of the ... Specific types include:. *Alexander disease-a disorder characterized by the destruction of white matter and the formation of ...
LMNAMutationsProteinsDevelopmentally regulatedPartial lipodystrophyHutchinson-GilfordLaminaChromatinImplicateBerardinelli-SeipMutationDefectsProgeriaExonCAAXGene expression2000Muscular dystrophyPhenotypeGenesNucleusDisordersInteractionsInvolvementLeukodystrophyGenerateDamageRoleCellsDetermineThought
LMNA9
- At the genetic level, LMNA mutations concern in most cases the type-A lamin C-terminal domain and more than 80% are heterozygous substitutions located at position 482 (R482W/Q/L). The other locations are G465D, K486N, R582H and R584H. (nih.gov)
- 2002). These disorders and their relationship to LMNA mutations have been reviewed recently {Burke and Stewart (2002)}, and Hutchinson (2002) has reviewed the function of lamins in the nuclear envelope. (nih.gov)
- 2002. Homozygous defects in LMNA, encoding lamin A/C nuclear envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. (nih.gov)
- 2002. Mandibuloacural dysplasia is caused by a mutation in LMNA encoding lamin A/C. Am. J. Hum. (nih.gov)
- 2000. LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. (nih.gov)
- 9. Familial partial lipodystrophy linked to a novel peroxisome proliferator activator receptor -γ (PPARG) mutation, H449L: a comparison of people with this mutation and those with classic codon 482 Lamin A/C (LMNA) mutations. (nih.gov)
- 16. A case of familial partial lipodystrophy caused by a novel lamin A/C (LMNA) mutation in exon 1 (D47N). (nih.gov)
- Western blot analysis of extracts from control HeLa cells (lane 1) or HeLa cells with an apparent in-frame truncation mutation in the gene encoding LMNA (lane 2) using Lamin A/C (4C11) Mouse mAb #4777 (upper) or α-actinin (D6F6) XP ® Rabbit mAb #6487 (lower). (cellsignal.com)
- The LMNA gene provides instructions for making a protein called lamin A. This protein plays an important role in determining the shape of the nucleus within cells. (nih.gov)
Mutations18
- Mutations in the nuclear structural protein lamin A cause the premature aging syndrome Hutchinson-Gilford progeria (HGPS). (nih.gov)
- lamin C is a splice variant and lacks the carboxyl terminus present in lamin A. At least 6 other rare human disorders due to lamin A/C mutations (known collectively as laminopathies) besides HGS have been described so far: Emery-Dreifuss muscular dystrophy (Bonne et al. (nih.gov)
- RESEARCH OBJECTIVES Lamin A is a major component of the nuclear envelope, so mutations in this gene are likely to have a broad impact on both nuclear structure and function. (nih.gov)
- o Develop interventions to reverse or attenuate cellular dysfunction due to lamin A mutations. (nih.gov)
- 1999. Mutations in the gene coding lamin A/C cause autosomal dominant muscular dystrophy. (nih.gov)
- 1999. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated myopathy and conduction system disease. (nih.gov)
- 2000. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances. (nih.gov)
- A well-known example is Emery-Dreifuss muscular dystrophy, which is caused by mutations in the human lamin A/C and emerin genes. (nih.gov)
- 2. Phenotypic heterogeneity in patients with familial partial lipodystrophy (dunnigan variety) related to the site of missense mutations in lamin a/c gene. (nih.gov)
- 5. Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C. (nih.gov)
- 7. Lamin A/C gene: sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy. (nih.gov)
- 14. Heterogeneity of nuclear lamin A mutations in Dunnigan-type familial partial lipodystrophy. (nih.gov)
- The unique caused by mutations in the lamin A/C gene localization of emerin in desmosomes and on chromosome 1 (1q11-q23) [ 3 ]. (who.int)
- Vertebrate lamins consist of two types, A and B. Mutations in this gene are associated with acquired partial lipodystrophy. (nih.gov)
- Mutations that cause Hutchinson-Gilford progeria syndrome result in the production of an abnormal version of the lamin A protein. (nih.gov)
- Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. (nih.gov)
- The disorder is caused by mutations in the LMNB1 gene which is responsible for making lamin B1 protein. (nih.gov)
- Insulin-resistance syndromes include those with mutations in the insulin receptors (ie, leprechaunism, Rabson-Mendenhall syndrome), peroxisome proliferator-activated receptor gamma (ie, type 1 diabetes with acanthosis nigricans and hypertension), 1-acylglycerol-3-phosphate O-acyl transferase-2 or seipin (Berardinelli-Seip syndrome), lamin A/C (Dunnigan syndrome), and Alstrom syndrome gene. (medscape.com)
Proteins8
- o Determine the cell-specific functions of the lamins in cells of the cardiovascular system, such as endothelial cells and cardiac and vascular smooth muscle cells, and the molecular mechanisms through which these proteins control and regulate cellular function. (nih.gov)
- The lamin family of proteins make up the matrix and are highly conserved in evolution. (nih.gov)
- During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. (nih.gov)
- Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. (nih.gov)
- Each type of leukodystrophy is caused by a defect in one of the genes that control the structure or amount of one of the proteins or lipids in myelin. (nih.gov)
- Lamin B1 is a structural protein that helps determine the shape of the cell nucleus and plays an important role in cell division and gene expression, including expression of the genes for oligodendrocyte development and production of some myelin proteins. (nih.gov)
- In this work, three motifs, the nuclear localization signal (NLS), the CAAX motif, and the 42 AA insert, specific to lamin proteins, were studied as to their role in targeting and assembly. (umaryland.edu)
- Biochemical analysis of the cell lines indicated that a large portion of lamin B does not co-fractionate with its putative receptor (p58), suggesting that the two proteins do not bind directly with one another. (umaryland.edu)
Developmentally regulated1
- A subclass of developmentally regulated lamins having a neutral isoelectric point. (nih.gov)
Partial lipodystrophy2
- Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy. (medscape.com)
- 4. Phenotypic gender differences in subjects with familial partial lipodystrophy (Dunnigan variety) due to a nuclear lamin A/C R482W mutation. (nih.gov)
Hutchinson-Gilford3
- Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome. (nih.gov)
- Gonzalez JM, Pla D, Perez-Sala D, Andres V. A-type lamins and Hutchinson-Gilford progeria syndrome: pathogenesis and therapy. (nih.gov)
- In 2003 his team identified Lamin A as the gene whose mutation is responsible for the extreme accelerated aging phenotype observed in Hutchinson-Gilford progeria patients. (nih.gov)
Lamina2
- The stability of the lamin B1 lamina is dependent on lamin endoproteolysis (by Rce1) but not carboxymethylation (by Icmt), whereas lamin C lamina stability is not affected by the loss of full-length lamin B1 or its processing. (ox.ac.uk)
- Comparison of wild-type murine fibroblasts with fibroblasts lacking full-length lamin B1, or defective in CAAX processing, identified genes that depend on a stable processed lamin B1 lamina for normal expression. (ox.ac.uk)
Chromatin1
- We further demonstrate that, in differentiating myoblasts, nuclear HSPB2 compartments sequester lamin A. Increasing the nuclear concentration of HSPB2 causes the formation of aberrant nuclear compartments that mislocalize lamin A and chromatin, with detrimental consequences for nuclear function and integrity. (rug.nl)
Implicate2
Berardinelli-Seip1
- Generalised lipodystrophy of the Berardinelli-Seip type (BSCL) is a rare autosomal recessive human disorder with severe adverse metabolic consequences. (bmj.com)
Mutation1
- 8. Phenotypic heterogeneity in body fat distribution in patients with atypical Werner's syndrome due to heterozygous Arg133Leu lamin A/C mutation. (nih.gov)
Defects3
- Age-related nuclear defects are caused by sporadic use, in healthy individuals, of the same cryptic splice site in lamin A whose constitutive activation causes HGPS. (nih.gov)
- Other human malformation syndromes caused by inborn errors of cholesterol synthesis include Lathosterolosis, Desmosterolosis, X-linked dominant chondrodysplasia punctata type 2 (CDPX2), and Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects (CHILD syndrome). (nih.gov)
- Defects in lamin B1 expression or processing affect interphase chromosome position and gene expression. (ox.ac.uk)
Progeria1
- Ghosh S, Zhou Z. Genetics of aging, progeria and lamin disorders. (nih.gov)
Exon1
- The gene structure of Xenopus nuclear lamin A: a model for the evolution of A-type from B-type lamins by exon shuffling. (mpg.de)
CAAX3
- The NLS is believed to target lamins to the nucleus while the CAAX motif acts to confer association of lamins with the nuclear envelope. (umaryland.edu)
- Stable cell lines expressing lamin B either with or without a CAAX motif were created. (umaryland.edu)
- Overexpression of lamin mutants lacking a CAAX motif resulted in accumulation into multiple aggregates within the nucleus that did not colocalize with coiled bodies. (umaryland.edu)
Gene expression2
20001
- 2000), Charcot-Marie-Tooth disorder type 2 (De Sandre-Giovanni et al. (nih.gov)
Muscular dystrophy1
- In a study utilizing MRI imaging, researchers found that all patients with Emery-Dreifuss muscular dystrophy type 2 showed a characteristic involvement of the posterior calf muscles. (medscape.com)
Phenotype1
- Long filaments were formed with cytoplasmic head domains were present on lamin rods, but the converse phenotype of reticular filaments formed whenever the lamin head domain was present. (umaryland.edu)
Genes1
- Despite widespread loss of cytosine methylation at regulatory sites, including promoter regions of protein coding genes and non-coding RNA genes, overall transcript abundance levels in the Hells-/- are similar to those in wild type cells. (nih.gov)
Nucleus2
- A multitude of complex, coupled interactions between lamins and nucleoporins (Nups), which mediate active transport into and out of the nucleus, combined with well documented dysregulation of lamins in many cancers , suggests that lamins and nuclear transport may play a pivotal role in carcinogenesis and the preservation of cancer . (bvsalud.org)
- Lamin B mutants deleted of any one of the three motifs showed delayed but appropriate targeting to the nucleus. (umaryland.edu)
Disorders1
- Smith-Lemli-Opitz syndrome (SLOS) and Niemann-Pick disease, type C1 (NPC1), respectively, are the prototypical examples of cholesterol homeostatic disorders whereas Juvenal Battens disease (CLN3) is an example of a lysosomal disease with unknown protein function. (nih.gov)
Interactions1
- o Determine how changes in the nuclear interactions of the lamins contribute to cardiovascular disease. (nih.gov)
Involvement1
- A-type lamins involvement in transport and implications in cancer? (bvsalud.org)
Leukodystrophy3
- the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD). (nih.gov)
- Symptoms of leukodystrophy vary according to the specific type and may be difficult to recognize in the early stages of the disorder. (nih.gov)
- Each type of leukodystrophy affects myelin differently and in different parts of the CNS, leading to a range of symptoms. (nih.gov)
Generate1
- Much of the early energy and enthusiasm passed instead to research into cellular reprogramming, such as that involved in the creation of induced pluripotent stem cells that can be used to generate any type of cells on demand. (fightaging.org)
Damage1
- Changes of function related to lamin /Nup activity can principally lead to DNA damage , further increasing the genetic diversity within a tumor , which could lead to the reduction the effectiveness of antineoplastic treatments . (bvsalud.org)
Role5
- Whether lamin A plays any role in normal aging is unknown. (nih.gov)
- This review discusses and synthesizes different connections of lamins to nuclear transport and offers a number of outlook questions, the answers to which could reveal a new perspective on the connection of lamins to molecular transport of cancer therapeutics , in addition to their established role in nuclear mechanics . (bvsalud.org)
- o Characterize age-related changes in lamins and the nuclear envelope, and determine whether these play any role in development of adverse phenotypes during normal aging. (nih.gov)
- Chimeric molecules were also created from the cytoplasmic IF, NF-L, and lamin to further test the role of other IF domains in assembly and sorting. (umaryland.edu)
- We report here a role for Hells in the establishment of cytosine methylation comprising a nuclear compartment that is in part defined by Lamin B1 attachment regions. (nih.gov)
Cells1
- Flow cytometric analysis of Daudi cells (blue) and MJ cells (green) using Lamin A/C (4C11) Mouse mAb (solid lines) or concentration-matched Mouse (G3A1) mAb IgG1 Isotype Control #5415 (dashed lines). (cellsignal.com)
Determine1
- Here we determine genome-wide DNA association profiles of two nuclear envelope components, lamin/LMN-1 and emerin/EMR-1 in adult Caenorhabditis elegans. (nih.gov)
Thought1
- The 42 AA insert is thought to inhibit association of lamins with their cytoplasmic counterparts. (umaryland.edu)
