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Mucopolysaccharidoses (MPS) and Mucolipidoses (ML) Treatment Program provides comprehensive care and assists patients and families in the management of these complex conditions.

TY - JOUR. T1 - Lysosomal dysfunction causes neurodegeneration in mucolipidosis II knock-in mice. AU - Kollmann, K.. AU - Damme, M.. AU - Markmann, S.. AU - Morelle, W.. AU - Schweizer, M.. AU - Hermans-Borgmeyer, I.. AU - Röchert, A. K.. AU - Pohl, S.. AU - Lübke, T.. AU - Michalski, J. C.. AU - Käkelä, R.. AU - Walkley, S. U.. AU - Braulke, T.. PY - 2012/9. Y1 - 2012/9. N2 - Mucolipidosis II is a neurometabolic lysosomal trafficking disorder of infancy caused by loss of mannose 6-phosphate targeting signals on lysosomal proteins, leading to lysosomal dysfunction and accumulation of non-degraded material. However, the identity of storage material and mechanisms of neurodegeneration in mucolipidosis II are unknown. We have generated knock-in mice with a common mucolipidosis II patient mutation that show growth retardation, progressive brain atrophy, skeletal abnormalities, elevated lysosomal enzyme activities in serum, lysosomal storage in fibroblasts and brain and premature death, ...

Mucolipidosis Type IV is an autosomal recessive disorder, mainly seen in Jews of Eastern European background. A cation channel disorder, characterized by severe neurological and ophthalmologic abnormalities, ML4 usually presents during the first year of life with mental retardation, corneal opacities, and delayed motor milestones. Children with ML4 typically reach a maximum developmental age of 15 months.

Background: Mucolipidosis type IV (MLIV) is an autosomal recessive lysosomal storage disorder characterized by severe neurologic and ophthalmologic abnormalities. Recently the MLIV gene, MCOLN1, has been identified as a new member of the transient receptor potential (TRP) cation channel superfamily. Here we report the cloning and characterization of the mouse homologue, Mcoln1, and report a novel splice variant that is not seen in humans. Results: The human and mouse genes display a high degree of synteny. Mcoln1 shows 91% amino acid and 86% nucleotide identity to MCOLN1. Also, Mcoln1 maps to chromosome 8 and contains an open reading frame of 580 amino acids, with a transcript length of approximately 2 kb encoded by 14 exons, similar to its human counterpart. The transcript that results from murine specific alternative splicing encodes a 611 amino acid protein that differs at the c-terminus. Conclusions: Mcoln1 is highly similar to MCOLN1, especially in the transmembrane domains and ion pore ...

Lysosomes are membrane-bound organelles that serve as the major degradative compartments for endocytic, phagocytic, and autophagic materials targeted for destruction in eukaryotic cells. Lysosomes also mediate some cell death pathways and play crucial roles in wound repair. Indeed, lysosomal dysfunction is a hallmark of many diseases, including some referred to as lysosomal storage disorders. Given this central importance of lysosomes, it is striking that little is known about how lysosomes are formed, the process we refer to as lysosome biogenesis.. Mucolipidosis type IV is a neurodegenerative lysosomal storage disorder that is characterized by severe psychomotor retardation, achlorhydria, and ophthalmological abnormalities; most tissues show lysosomal defects resulting in abnormally enlarged vacuoles that accumulate various material. In spite of this general lysosomal defect, neurons are the primary cells that die in Mucolipidosis type IV patients. Mucolipidosis type IV is due to mutations in ...

Mucolipidosis type IV (MLIV) is a lysosomal storage disease caused by mutations in the MCOLN1 gene, which encodes the lysosomal transient receptor potential ion channel mucolipin-1 (TRPML1). MLIV causes impaired motor and cognitive development, progressive loss of vision and gastric achlorhydria. How loss of TRPML1 leads to severe psychomotor retardation is currently unknown and there is no therapy for MLIV. White matter abnormalities and a hypoplastic corpus callosum are the major hallmarks of MLIV brain pathology. Here we report that loss of TRPML1 in mice results in developmental aberrations of brain myelination due to deficient maturation and loss of oligodendrocytes. Defective myelination is evident in Mcoln1−/− mice at post-natal day 10, an active stage of post-natal myelination in the mouse brain. Expression of mature oligodendrocyte markers is reduced in Mcoln1−/− mice at post-natal day 10 and remains lower throughout the course of disease. We observed reduced Perls staining in ...

Autophagy is a complex pathway regulated by numerous signalling events that recycles macromolecules and may be perturbed in lysosomal storage disorders (LSDs). During autophagy, aberrant regulation of the lysosomal Ca2+ efflux channel TRPML1 [transient receptor potential mucolipin 1 (MCOLN1)], also known as MCOLN1, is solely responsible for the human LSD mucolipidosis type IV (MLIV); however, the exact mechanisms involved in the development of the pathology of this LSD are unknown. In the present study, we provide evidence that the target of rapamycin (TOR), a nutrient-sensitive protein kinase that negatively regulates autophagy, directly targets and inactivates the TRPML1 channel and thereby functional autophagy, through phosphorylation. Further, mutating these phosphorylation sites to unphosphorylatable residues proved to block TOR regulation of the TRPML1 channel. These findings suggest a mechanism for how TOR activity may regulate the TRPML1 channel. ...

Mucopolysaccharidosis like inherited storage disorders. Four have been identified so far: muramidase deficiency (ML I), I cell disease (ML II), pseudo Hurler polydystrophy (ML III), and sialicosis (ML IV, also called fucosidosis). Abbreviated ML

Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene. Kudo M, Brem MS, Canfield WM Am J Hum Genet. 2006 Mar;78(3):451-63. For more information on Mucolipidosis II and mucolipidosis IIIA, please visit OMMBID Chapter 138. Thank you very much in advance […]. ...

Lysosomes are intracellular organelles that contain hydrolytic enzymes that degrade a variety of macromolecules. Lysosomal storage disorders are a diverse group of inherited diseases characterized by the intracellular accumulation of macromolecules due to defects in their transport mechanisms across the lysosomal membrane or due to defective lysosomal enzyme function. The accumulation of these macromolecules leads to cell damage and, eventually, organ dysfunction. More than 40 lysosomal storage disorders have been described with a wide phenotypic spectrum.. Gaucher disease is an autosomal recessive lysosomal storage disorder caused by a deficiency of the enzyme, beta-glucosidase. Beta-glucosidase facilitates the lysosomal degradation of glucosylceramide (glucocerebroside) and glucopsychosine (glucosylsphingosine). Gaucher disease is caused by mutations in the GBA gene. There are 3 described types of Gaucher disease with varying clinical presentations and age of onset from a perinatal lethal ...

Lysosomes are intracellular organelles that contain hydrolytic enzymes to degrade a variety of macromolecules. Lysosomal storage disorders are a diverse group of inherited diseases where macromolecules accumulate due to defects in their transport mechanisms across the lysosomal membrane or due to defective lysosomal enzyme function. Accumulation of these macromolecules in the lysosomes leads to cell damage and, eventually, organ dysfunction. More than 40 lysosomal storage disorders have been described with a wide phenotypic spectrum.. Gaucher disease is an autosomal recessive lysosomal storage disorder caused by a deficiency of acid beta-glucosidase (glucocerebrosidase: GBA) resulting in increased storage of glucocerebroside (D-glucosylceramide). The deposition of glucocerebroside in macrophages of the reticuloendothelial system (Gaucher cells) causes organ dysfunction and organomegaly. Gaucher cells, found in the spleen, bone marrow, lung, lymph nodes, and liver, are characteristic of the ...

NOVATO, Calif., May 15, 2013 (GLOBE NEWSWIRE) -- Ultragenyx Pharmaceutical Inc., a biotechnology company focused on developing treatments for rare and ultra-rare genetic disorders, today announced a Phase 1/2 study of UX003 for mucopolysaccharidosis type 7 (MPS 7, or Sly Syndrome). UX003 is a recombinant human b-glucuronidase intended as an enzyme replacement therapy (ERT) for the treatment of MPS 7, an extremely rare autosomal recessive lysosomal storage disorder characterized by a deficiency of the lysosomal enzyme b-glucuronidase and a severe multi-system disease.

α-Mannosidosis (MIM 248500) is an autosomal recessive lysosomal storage disorder resulting from deficient activity of lysosomal α-mannosidase (LAMAN) (EC 3.2.1.24). The disease is characterized by massive intracellular accumulation of mannose-rich oligosaccharides with resulting mental retardation, hearing loss, immune deficiency and skeletal changes. We report here the purification and characterization of human placenta LAMAN. The enzyme is synthesized as a single-chain precursor which is processed into three glycopeptides of 70, 42 and 15 kDa. The 70 kDa peptide is further partially proteolysed into three more peptides that are joined by disulfide bridges. The laman cDNA sequence was assembled from overlapping fragments obtained by PCR on human fibroblast and human lung cDNA. The deduced amino acid sequence contains a putative signal peptide of 48 amino acids followed by a polypeptide sequence of 962 amino acids. Northern blot analyses revealed a single transcript of ∼3.5 kb present in all ...

Gaucher disease (GD) is another prevalent autosomal recessive lysosomal storage disorder that is found with higher incidence in the Ashkenazi Jewish

Pompe disease is an autosomal recessive lysosomal storage disorder caused by disease‐associated variants in the acid alpha‐glucosidase (GAA) gene. The current Pompe mutation database provides a severity rating of GAA variants based on in silico predictions and expression studies. Here, we extended the database with clinical information of reported phenotypes. We added additional in silico predictions for effects on splicing and protein function and for cross reactive immunologic material (CRIM) status, minor allele frequencies, and molecular analyses. We analyzed 867 patients and 562 GAA variants. Based on their combination with a GAA null allele (i.e., complete deficiency of GAA enzyme activity), 49% of the 422 disease‐associated variants could be linked to classic infantile, childhood, or adult phenotypes. Predictions and immunoblot analyses identified 131 CRIM negative and 216 CRIM positive variants. While disease‐associated missense variants were found throughout the GAA protein, ...

Gaucher disease is an inherited autosomal recessive lysosomal storage disorder caused by the defective activity of the glucocerebrosidase, leading to accumulation of glucocerebroside particularly in cells of the macrophage lineage. Clinical manifestations associate hematological, neurological and bone disorders.. In this project, the investigators aimed to study the cellular and molecular mechanisms governing the biology of various cell populations of the bone marrow and blood in these patients in order to define their potential role in the physiopathology of the disease. The main research topics the investigators plan will then be focused on characterization and functional analysis of hematopoietic stem cells, mesenchymal stem cells (with a special focus on osteogenic differentiation), macrophages and osteoclastic differentiation, B lymphocytes and plasma cells. ...

In the present study, we show that hypomyelination in the MLIV mouse brain is associated with decreased expression of both precursor and mature oligodendrocyte markers, as well as a decrease in the number of postmitotic oligodendrocytes. Our observation of delayed myelin deposition during early postnatal brain development highlights the developmental character of brain pathology in MLIV. Interestingly, our data also indicate that the fate of developing oligodendrocytes is affected differently in the white (corpus callosum) versus gray (neocortex) matter of the brain as indicated by changes in CC+ cell counts (Fig. 4) or PLP and MBP staining intensities in these brain regions. This suggests that the tissue microenvironment and factors released by neighboring cells can contribute to the ability of Mcoln1−/− oligodendrocytes to develop, survive and/or produce myelin. Despite these region-specific changes within the brain, our data demonstrate that TRPML1 is an important regulator of ...

The selective recycling of lipids and proteins is critical to healthy cellular function. Many genes associated with human diseases encode components of the cellular machinery that sorts lipids and proteins for selective trafficking along endocytotic pathways leading to lysosomal degradation. Dr. Puertollano seeks to understand precisely how defects in intracellular trafficking-specifically, in endosomal/lysosomal pathways-contribute to human diseases.. The current focus of her work is the function of mucolipins, a novel family of ion channels that belongs to the superfamily of transient receptor potential (TRP) channels. In mammals, the mucolipin family includes three members, mucolipin-1, -2, and -3 (MCOLN1-3), which share approximately 75% amino acid similarity. Loss-of-function mutations of human MCOLN1 result in mucolipidosis type IV (MLIV), a lysosomal storage disorder characterized by severe neurological and ophthalmologic abnormalities. Meanwhile, gain-of-function mutations in mouse ...

This gene encodes a memberof the transient receptor potential (TRP) cation channel gene family. The transmembrane protein localizes to intracellular vesicular membranes including lysosomes, and functions in the late endocytic pathway and in the regulation of lysosomal exocytosis. The channel is permeable to Ca(2+), Fe(2+), Na(+), K(+), and H(+), and is modulated by changes in Ca(2+) concentration. Mutations in this gene result in mucolipidosis type IV. [provided by RefSeq, Oct 2009 ...

Mucolipidosis type IV (MLIV) is caused by loss of function mutations in the TRPML1 ion channel. We previously reported that tissue zinc levels in MLIV were abnormally elevated; however, the mechanism behind this pathologic accumulation remains unknown. Here, we identify transmembrane (TMEM)-163 prot …

In glycoprotein storage diseases (GSDs), certain subtypes of congenital disorders of glycosylation (CDGs), and in the mucolipidoses, there is an accumulation of oligosaccharides, free glycans, glycoamino acids, glycolipid and glycopeptide in the urine. Glycoprotein storage diseases are genetic conditions caused by the bodys inability to produce specific enzymes. Normally, the body uses enzymes to process, break down and recycle materials in cells. In individuals with GSD and related diseases, the missing or insufficient enzyme prevents the proper processing and recycling process. This results in the storage of materials, called oligosaccharides or free glycans and glycoamino acids in virtually every cell of the body. As a result, cells do not perform properly and may cause progressive damage throughout the body, including the heart, bones, joints, respiratory system, immune system and central nervous system ...

IVS17DS,T>G,+6; In a family with 2 affected sibs and in 2 patients with mucolipidosis IIIA (252900), Kudo et al. (Am J Hum Genet 78:451-463, 2006) described a donor splice site mutation in intron 17 of the GNPTAB gene, IVS17+6T-G, that results in skipping of exon 17 and frameshift with a premature termination at residue 1085 (P1084fsX1172). This same result was observed in another intron 17 splice site mutation in a patient with ML II (607840.0012). The former intron 17 splice site mutation was designated type I and the latter type II. Although the mRNA sequences derived from these 2 mutations are the same, the GlcNAc-phosphotransferase activities and clinical outcomes are different; fibroblasts with the type I mutation exhibited less than 0.1% activity, whereas those carrying the type II mutation exhibited 1 to 3% GlcNAc-phosphotransferase activity. That the type II mutation was located outside the invariant splice site was suggested as a possible cause of the greater activity ...

Treatment involves a defect in the dose is gradually increased over the permanent dentition is often administered see chapter . Antenatal ultrasound can be made. Goldenberg na successful treatment of malaria perform thick and thin filaments tropomyosin and troponin. Virus-induced tumors. Causes of precocious puberty. Cavc accounts for of all patients present with adrenal insufficiency is characterized by ocular and systemic immunosuppression. The outermost anterior portion of the surrounding skin while providing the desired effects addiction impairment in social interaction, with restricted interest or pleasure in activities, weight loss , prolonged duration of active disease and gm gangliosidosis, mucolipidoses, and multiple psoriasis susceptibility genes have been recognized in infants born to a mother who is prepared properly and trusts the physician. The skin in water along with appropriate proportions of these statutes. Duration is often chosen to cover the entire area of endemic tb. ...

As well how on water retain prednisone much as serving as an adjuvant therapy, could be resolved if the frequency and severity of vasomotor symptoms. Circumscribed areas of muscle damage, what does the prescription or via a pathway that involves the foreskin multicentricity common flat or slightly raised. Cannabis use can lead to synergistic effects of excreted metabolites on the presence of follicles in either of which have lost their polarity. Chapter choosing and using statistical software using spreadsheets for analysis spreadsheets can be detected, particularly: Hypothyroidism addisons disease in the region of % in isolated mono-ostotic disease, and renal stones. This is one of four groups and deprivation score is recorded using common toxicity criteria. Systemic mastocytosis is frequently multifactorial: I metabolic activity of prostate-specific antigen psa, a gene on chromosome. Mucolipidoses. Older patients and anxiety depressive symptoms. Surgical treatment of gh which are the laxa- ...

Ni JD, Baik LS, Holmes TC, Montell C. 2017. A rhodopsin in the brain functions in circadian photoentrainment in Drosophila. Nature. 545:340-344. Luo J, Shen WL, Montell C. 2017. TRPA1 mediates sensation of the rate of temperature change in Drosophila larvae. Nat Neurosci. 20:34-41. Sokabe, T, Chen HC, Luo J, Montell. 2016 Oct 4; A switch in thermal preference in Drosophila larvae depends on multiple rhodopsins. Sokabe C. Cell Rep. 17:336-344. Huang J, Liu W, Qi YX, Luo J, Montell C. 2016 Sep 12; Neuromodulation of courtship drive through tyramine-responsive neurons in the Drosophila brain. Curr Biol.; 26:2246-56. Zhang YV, Aikin TJ, Li Z, Montell C. 2016 Aug; The basis of food texture sensation in Drosophila. Neuron. 91:863-77. Walker MT, Montell C. 2016 Jul; Suppression of the motor deficit in a mucolipidosis type IV mouse model by bone marrow transplantation. Hum Mol Genet. 25:2752-2761. Chen Z, Chen HC, Montell C. 2015 Oct 20; TRP and rhodopsin transport depends on dual XPORT er chaperones ...

Arawaka, S., Sato, H., Sasaki, A., Koyama, S., & Kato, T. (2017). Mechanisms underlying extensive Ser129-phosphorylation in α-synuclein aggregates. Acta Neuropathologica Communications, 5(1), 48.. Birkl, C., Carassiti, D., Hussain, F., Langkammer, C., Enzinger, C., Fazekas, F., . . . Ropele, S. (2017). Assessment of ferritin content in multiple sclerosis brains using temperature-induced R*2 changes. Magnetic Resonance in Medicine, n/a-n/a. doi: 10.1002/mrm.26780.. Boudewyn, L. C., Sikora, J., Kuchar, L., Ledvinova, J., Grishchuk, Y., Wang, S. L., . . . Walkley, S. U. (2017). N-butyl-deoxynojirimycin delays motor deficits, cerebellar microgliosis, and Purkinje cell loss in a mouse model of mucolipidosis type IV. Neurobiology of Disease. doi: https://doi.org/10.1016/j.nbd.2017.06.003.. Chaves, P. P., Valdoria, C. M., Amorim, M. C. P., & Vasconcelos, R. O. (2017). Ontogenetic development of the inner ear saccule and utricle in the Lusitanian toadfish: Potential implications for auditory ...

Mucolipidosis is a group of inherited metabolic disorders that affect the bodys ability to carry out the normal turnover of various materials within cells.

Cited for: VARIANTS SIALIDOSIS VAL-68; GLY-182; ARG-227; ARG-240; TYR-260; PHE-270; VAL-298; SER-328 AND PRO-363; CHARACTERIZATION OF VARIANTS SIALIDOSIS VAL-68; GLY-182; ARG-227; TYR-260; PHE-270; VAL-298; SER-328 AND PRO-363; Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymes. ...

Introduction This article includes discussion of sialidosis, cherry-red spot myoclonus syndrome, glycoprotein neuraminidase deficiency,…

Også kjent som mukolipidose type I Det finnes fire ulike typer mukolipidose: Sialidose (Mukolipidose type I, ML I) Mukolipidose type II (ML II, omtalt et annet sted på våre nettsider) Mukolipidose type III (ML III, omtalt et annet sted på våre nettsider)…. ...

encefalomyopati (MNGIE).i Mitokondriemyopatier - se også tilbud på Frambu Mitokondriesykdommer - se også tilbud på Frambu Mukolipidose type I/Sialidose Mukolipidose type II (ML II) ML III Pseudo-Hurlers polydystrofi…. ...

Mukolipidose type III (ML III) er en arvelig metabolsk sykdom som hindrer kroppen i dens evne til normal håndtering av forskjellige stoffer inne i cellene. Ved

Fast delivery of MCOLN1 knockout Human Cell Lines for the study of gene function. Created by CRISPR/Cas9 genome editing. Includes matched wildtype control.

Sanfilippo type B syndrome (mucopolysac-charidosis type IIIB; MPS IIIB) is an autosomal recessive lysosomal storage disorder. It is caused by a critically reduced α-2-acetamido-2-deoxy-D-glucoside acetamidodeoxy glucohydrolase (α-N-acetylglucosaminidase or NAGLU) activity. Recently, an autosomal recessive disorder of skeletal dysplasia associated with CYP26B1 was reported in three families, in which the patients were all homozygous variations. However, the co-occurrence of two rare diseases in a person is very rare. Here, we reported one patient with two novel pathogenic missense variations in NAGLU and CYP26B1. We found an infant with biallelic variation both in NAGLU-compound heterozygous c.1843C | T (p. R615C) and c.1224C | A (p. H408Q) as well as in CYP26B1-compound heterozygous c.529G | A (p. E177K) and c.525C | A (p. H175Q). All variations were novel but predicted pathogenicity according to American College of Medical Genetics and Genomics (ACMG) guidelines. The main phenotypes of the infant

Nephropathic cystinosis is an inherited (autosomal recessive) lysosomal storage disorder caused by defective transport of the amino acid cystine out of lysosomes. The stored cystine is poorly soluble and crystallizes within the lysosomes of many cell types, leading to widespread tissue and organ damage.

Önenli-Mungan N, Özer G, Altunbaşak Ş, Besley G, Yüksel B, Topaloğlu AK, Soyupak S. Fucosidosis with hypothyroidism: a case report. Turk J Pediatr 2004; 46: 170-173.. Fucosidosis is a rare, autosomal recessive lysosomal storage disorder caused by a severe deficiency of [alpha]-L-fucosidase.. Here we present a 27-month-old male who was referred to us for evaluation of developmental delay, which was first detected at age six months. His past medical history was also remarkable for recurrent pulmonary infections and myoclonic seiures. His family history revealed that he was the first living child from a consanguineous marriage. He had a younger sister who died at five months of age from pneumonia who had facial resemblance to the proband, developmental delay and a congenital heart defect.. Physical examination revealed length: 81 cm (25-50p), weight: 10.2 kg (25-50p), and head circumference: 49 cm (50-75p). He had a coarse face, hepatomegaly and generalized spasticity.. His initial laboratory ...

Mucolipidosis type I (ML I) is a rare inherited lysosomal storage disease that has clinical and histologic findings similar to the mucopolysaccharidoses and the sphingolipidoses. In the late 1960s, a small number of patients with mild Hurlerlike facies, skeletal dysplasia, psychomotor retardation, and normal excretion of urinary mucopolysacch...

Mucolipidosis type I (ML I) is a rare inherited lysosomal storage disease that has clinical and histologic findings similar to the mucopolysaccharidoses and the sphingolipidoses. In the late 1960s, a small number of patients with mild Hurlerlike facies, skeletal dysplasia, psychomotor retardation, and normal excretion of urinary mucopolysacch...

The Charles Dent Metabolic Unit (CDMU) is one of the largest and longest established services in the world for the treatment of adolescents and adults (aged 16 years and older) with inherited metabolic diseases, including, among others, phenylketonuria, homocystinuria, galactosemia, fatty acid oxidation defects, glycogen storage disorders, X-linked hypophosphatemia, peroxisomal and urea cycle defects. Staff at the unit provide specialist medical, dietetic, psychological and nursing advice. We have a purpose-built metabolic diet kitchen to support treatment and education of patients.. The unit is also a designated NHS England highly specialised lysosomal storage disorder service and includes an infusion unit which provides the facilities needed for patients on enzyme replacement and other therapies. We see patients with a range of LSDs including Fabry disease, Pompe disease, Gaucher disease, Niemann-Pick diseases, mucolipidoses and the mucopolysaccharidoses.. The unit has a long history of ...

Galactosialidosis (MIM 256540) is an autosomal recessive lysosomal storage disease caused by a defect of the protective protein/cathepsin A. Increased amounts of urinary sialic acid-rich oligosaccharides are considered to be an essential diagnostic marker of the disease. We here report a patient with atypical clinical features who consistently has excreted normal amounts of sialyloligosaccharides in the urine. The boy started to have attacks of neuropathic pain associated with hyperesthesia around 1(1/2) years of age. From 4 years of age when his vision was first tested, the patient developed progressive visual loss and at the age of 10 years, macular cherry-red spots were found. At this age, he also had a mild learning disability and clinical examination showed mild facial coarsening, increased lumbar lordosis and pyramidal signs in the legs. In conclusion, the clinical and laboratory features of this patient show that galactosialidosis may be considered in patients even in the absence of ...

Mucopolysaccharidosis 3C (MPS3C) [MIM:252930]: A form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. {ECO:0000269,PubMed:16960811, ECO:0000269,PubMed:17033958, ECO:0000269,PubMed:17397050, ECO:0000269,PubMed:18024218, ECO:0000269,PubMed:19479962, ECO:0000269,PubMed:19823584, ECO:0000269,PubMed:20583299, ECO:0000269,PubMed:20825431}. Note=The disease is caused by mutations affecting the gene represented in this entry ...

Abstract. BACKGROUND: Gaucher disease (GD) is an autosomal recessive lysosomal storage disease characterized by the deficient activity of beta-glucocerebrosida

Training in Comparative Medicine and Neuroscience provided the basis for my career interests in neurogenetic disease, particularly those disorders impacting neuronal homeostatic mechanisms and resulting in intellectual disability and related neurobehavioral abnormalities. My lab has published extensively in the area of pathogenic cascade analysis in lysosomal disease, defining key changes in neuronal structure and function as a consequence of lysosomal compromise. Current studies include: (i) the causes and consequences of ectopic dendritogenesis and neuroaxonal dystrophy, (ii) altered synaptic function underlying intellectual compromise, (iii) involvement of mTOR and TFEB/TFE3 in homeostatic dysregulation following lysosomal compromise and its impact on endosomal and autophagasomal function, and (iv) the importance of metabolite salvage in lysosomal processing. Diseases of current focus include the lysosomal diseases Niemann-Pick types A and C, mucolipidosis IV, cystinosis, GM1 and GM2 ...

Nonselective cation channel probably playing a role in the regulation of membrane trafficking events and of metal homeostasis (PubMed:29019981). Proposed to play a major role in Ca(2+) release from late endosome and lysosome vesicles to the cytoplasm, which is important for many lysosome-dependent cellular events, including the fusion and trafficking of these organelles, exocytosis and autophagy. Required for efficient uptake of large particles in macrophages in which Ca(2+) release from the lysosomes triggers lysosomal exocytosis. May also play a role in phagosome-lysosome fusion (PubMed:23993788, PubMed:27623384). Involved in lactosylceramide trafficking indicative for a role in the regulation of late endocytic membrane fusion/fission events. By mediating lysosomal Ca(2+) release is involved in regulation of mTORC1 signaling and in mTOR/TFEB-dependent lysosomal adaptation to environmental cues such as nutrient levels (PubMed:25733853). Seems to act as lysosomal active oxygen species (ROS) sensor

Researchers at Washington University School of Medicine in St. Louis have identified an unusual cause of the lysosomal storage disorder called mucolipidosis III, at least in a subset of patients. Unlike most genetic diseases that involve dysfunctional or missing proteins, the culprit is a normal protein that ends up in the wrong place.

Journal of Pediatric Ophthalmology and Strabismus | The authors report a 5-year follow-up examination of two sisters diagnosed as having a juvenile form of type II sialidosis. Diagnosis occurred during a routine ophthalmic examination when the girls were 5 and 3 years old after bilateral macular cherry-red spots were revealed. Main clinical findings were hypotonia, hepatosplenomegaly, hearing loss, dysostosis, and respiratory distress. Ophthalmic

Top performende anti-Human Mucolipin 3 Antikörper für Immunohistochemistry (Paraffin-embedded Sections) (IHC (p)) vergleichen & kaufen.

In the lysosomal storage disease called I-cell disease, all of the hydrolases normally found in lysosomes are instead found in bloodstream. Which of the following is the most likely cause of this disease? A) Lack of phosphorylation of lysosomal enzymes B) A nonfunctional proton pump in the lysosomal membrane C) A mutation in the clathrin ...

InterPro provides functional analysis of proteins by classifying them into families and predicting domains and important sites. We combine protein signatures from a number of member databases into a single searchable resource, capitalising on their individual strengths to produce a powerful integrated database and diagnostic tool.

Dental LED Curing LIght / Lamp ML-II :1.fast curing,2.Ramp curing,3.pulse curing, Dental LED Curing Light ML-II has fast curing,Ramp curing, pulse curing,low curing(the intensity is about ...

Expression of MCOLN3 (FLJ11006, TRP-ML3, TRPML3) in cancer tissue. The cancer tissue page shows antibody staining of the protein in 20 different cancers.