alpha-Mannosidosis
An inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activity that results in lysosomal accumulation of mannose-rich intermediate metabolites. Virtually all patients have psychomotor retardation, facial coarsening, and some degree of dysostosis multiplex. It is thought to be an autosomal recessive disorder.
Mannose
alpha-Mannosidase
An enzyme that catalyzes the HYDROLYSIS of terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. The enzyme plays a role in the processing of newly formed N-glycans and in degradation of mature GLYCOPROTEINS. There are multiple isoforms of alpha-mannosidase, each having its own specific cellular location and pH optimum. Defects in the lysosomal form of the enzyme results in a buildup of mannoside intermediate metabolites and the disease ALPHA-MANNOSIDOSIS.
Swainsonine
Cat Diseases
Cattle Diseases
Oligosaccharides
Lysosomes
A class of morphologically heterogeneous cytoplasmic particles in animal and plant tissues characterized by their content of hydrolytic enzymes and the structure-linked latency of these enzymes. The intracellular functions of lysosomes depend on their lytic potential. The single unit membrane of the lysosome acts as a barrier between the enzymes enclosed in the lysosome and the external substrate. The activity of the enzymes contained in lysosomes is limited or nil unless the vesicle in which they are enclosed is ruptured. Such rupture is supposed to be under metabolic (hormonal) control. (From Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed)
Cobalt
Chromatography, Thin Layer
Edetic Acid
Isoelectric Focusing
Cattle
Interleukin-1beta
beta 2-Microglobulin
An 11-kDa protein associated with the outer membrane of many cells including lymphocytes. It is the small subunit of the MHC class I molecule. Association with beta 2-microglobulin is generally required for the transport of class I heavy chains from the endoplasmic reticulum to the cell surface. Beta 2-microglobulin is present in small amounts in serum, csf, and urine of normal people, and to a much greater degree in the urine and plasma of patients with tubular proteinemia, renal failure, or kidney transplants.
Receptors, Adrenergic, beta
Integrin beta3
Transforming Growth Factor beta
A factor synthesized in a wide variety of tissues. It acts synergistically with TGF-alpha in inducing phenotypic transformation and can also act as a negative autocrine growth factor. TGF-beta has a potential role in embryonal development, cellular differentiation, hormone secretion, and immune function. TGF-beta is found mostly as homodimer forms of separate gene products TGF-beta1, TGF-beta2 or TGF-beta3. Heterodimers composed of TGF-beta1 and 2 (TGF-beta1.2) or of TGF-beta2 and 3 (TGF-beta2.3) have been isolated. The TGF-beta proteins are synthesized as precursor proteins.
Integrin alpha5beta1
Integrin beta4
Integrin alpha6beta4
This intrgrin is a key component of HEMIDESMOSOMES and is required for their formation and maintenance in epithelial cells. Integrin alpha6beta4 is also found on thymocytes, fibroblasts, and Schwann cells, where it functions as a laminin receptor (RECEPTORS, LAMININ) and is involved in wound healing, cell migration, and tumor invasiveness.
Integrin beta Chains
Integrin beta chains combine with integrin alpha chains to form heterodimeric cell surface receptors. Integrins have traditionally been classified into functional groups based on the identity of one of three beta chains present in the heterodimer. The beta chain is necessary and sufficient for integrin-dependent signaling. Its short cytoplasmic tail contains sequences critical for inside-out signaling.
beta 2-Glycoprotein I
A 44-kDa highly glycosylated plasma protein that binds phospholipids including CARDIOLIPIN; APOLIPOPROTEIN E RECEPTOR; membrane phospholipids, and other anionic phospholipid-containing moieties. It plays a role in coagulation and apoptotic processes. Formerly known as apolipoprotein H, it is an autoantigen in patients with ANTIPHOSPHOLIPID ANTIBODIES.
Integrin alpha4beta1
Integrin alpha4beta1 is a FIBRONECTIN and VCAM-1 receptor present on LYMPHOCYTES; MONOCYTES; EOSINOPHILS; NK CELLS and thymocytes. It is involved in both cell-cell and cell- EXTRACELLULAR MATRIX adhesion and plays a role in INFLAMMATION, hematopoietic cell homing and immune function, and has been implicated in skeletal MYOGENESIS; NEURAL CREST migration and proliferation, lymphocyte maturation and morphogenesis of the PLACENTA and HEART.
Integrin alpha2beta1
An integrin found on fibroblasts, platelets, endothelial and epithelial cells, and lymphocytes where it functions as a receptor for COLLAGEN and LAMININ. Although originally referred to as the collagen receptor, it is one of several receptors for collagen. Ligand binding to integrin alpha2beta1 triggers a cascade of intracellular signaling, including activation of p38 MAP kinase.
Receptors, Adrenergic, beta-2
A subclass of beta-adrenergic receptors (RECEPTORS, ADRENERGIC, BETA). The adrenergic beta-2 receptors are more sensitive to EPINEPHRINE than to NOREPINEPHRINE and have a high affinity for the agonist TERBUTALINE. They are widespread, with clinically important roles in SKELETAL MUSCLE; LIVER; and vascular, bronchial, gastrointestinal, and genitourinary SMOOTH MUSCLE.
Integrins
A family of transmembrane glycoproteins (MEMBRANE GLYCOPROTEINS) consisting of noncovalent heterodimers. They interact with a wide variety of ligands including EXTRACELLULAR MATRIX PROTEINS; COMPLEMENT, and other cells, while their intracellular domains interact with the CYTOSKELETON. The integrins consist of at least three identified families: the cytoadhesin receptors(RECEPTORS, CYTOADHESIN), the leukocyte adhesion receptors (RECEPTORS, LEUKOCYTE ADHESION), and the VERY LATE ANTIGEN RECEPTORS. Each family contains a common beta-subunit (INTEGRIN BETA CHAINS) combined with one or more distinct alpha-subunits (INTEGRIN ALPHA CHAINS). These receptors participate in cell-matrix and cell-cell adhesion in many physiologically important processes, including embryological development; HEMOSTASIS; THROMBOSIS; WOUND HEALING; immune and nonimmune defense mechanisms; and oncogenic transformation.
Interleukin-1
A soluble factor produced by MONOCYTES; MACROPHAGES, and other cells which activates T-lymphocytes and potentiates their response to mitogens or antigens. Interleukin-1 is a general term refers to either of the two distinct proteins, INTERLEUKIN-1ALPHA and INTERLEUKIN-1BETA. The biological effects of IL-1 include the ability to replace macrophage requirements for T-cell activation.
Antigens, CD29
Integrin beta-1 chains which are expressed as heterodimers that are noncovalently associated with specific alpha-chains of the CD49 family (CD49a-f). CD29 is expressed on resting and activated leukocytes and is a marker for all of the very late activation antigens on cells. (from: Barclay et al., The Leukocyte Antigen FactsBook, 1993, p164)
Integrin alpha6beta1
A cell surface receptor mediating cell adhesion to the EXTRACELLULAR MATRIX and to other cells via binding to LAMININ. It is involved in cell migration, embryonic development, leukocyte activation and tumor cell invasiveness. Integrin alpha6beta1 is the major laminin receptor on PLATELETS; LEUKOCYTES; and many EPITHELIAL CELLS, and ligand binding may activate a number of signal transduction pathways. Alternative splicing of the cytoplasmic domain of the alpha6 subunit (INTEGRIN ALPHA6) results in the formation of A and B isoforms of the heterodimer, which are expressed in a tissue-specific manner.
Receptors, Adrenergic, beta-1
A subclass of beta-adrenergic receptors (RECEPTORS, ADRENERGIC, BETA). The adrenergic beta-1 receptors are equally sensitive to EPINEPHRINE and NOREPINEPHRINE and bind the agonist DOBUTAMINE and the antagonist METOPROLOL with high affinity. They are found in the HEART, juxtaglomerular cells, and in the central and peripheral nervous systems.
Integrin alpha1beta1
Integrin alpha1beta1 functions as a receptor for LAMININ and COLLAGEN. It is widely expressed during development, but in the adult is the predominant laminin receptor (RECEPTORS, LAMININ) in mature SMOOTH MUSCLE CELLS, where it is important for maintenance of the differentiated phenotype of these cells. Integrin alpha1beta1 is also found in LYMPHOCYTES and microvascular endothelial cells, and may play a role in angiogenesis. In SCHWANN CELLS and neural crest cells, it is involved in cell migration. Integrin alpha1beta1 is also known as VLA-1 and CD49a-CD29.
Cells, Cultured
Glycogen Synthase Kinase 3
RNA, Messenger
RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.
Estrogen Receptor beta
Transforming Growth Factor beta1
A subtype of transforming growth factor beta that is synthesized by a wide variety of cells. It is synthesized as a precursor molecule that is cleaved to form mature TGF-beta 1 and TGF-beta1 latency-associated peptide. The association of the cleavage products results in the formation a latent protein which must be activated to bind its receptor. Defects in the gene that encodes TGF-beta1 are the cause of CAMURATI-ENGELMANN SYNDROME.
The relationship between beta-mannosidase and endo-beta-mannanase activities in tomato seeds during and following germination: a comparison of seed populations and individual seeds. (1/3)
beta-Mannosidase and endo-beta-mannanase are involved in the mobilization of the mannan-containing cell walls of the tomato seed endosperm. The activities of both enzymes increase in a similar temporal manner in the micropylar and lateral endosperm during and following germination. This increase in enzyme activities in the micropylar endosperm is not markedly reduced in seeds imbibed in abscisic acid although, in the lateral endosperm, endo-beta-mannanase activity is more suppressed by this inhibitor than is the activity of beta-mannosidase. Gibberellin-deficient (gib-1) mutants of tomato do not germinate unless imbibed in gibberellin; low beta-mannosidase activity, and no endo-beta-mannanase activity is present in seeds imbibed in water, but both enzymes increase strongly in activity in the seeds imbibed in the growth regulator. For production of full activity of both beta-mannosidase and endo-beta-mannanase in the endosperm, this tissue must be in contact with the embryo for at least the first 6 h of imbibition, which is indicative of a stimulus diffusing from the embryo to the endosperm during this time. These results suggest some correlation between the activities of beta-mannosidase and endo-beta-mannanase, particularly in the micropylar endosperm, in populations of tomato seeds imbibed in water, abscisic acid and gibberellin. However, when individual micropylar endosperm parts are used to examine the effect of the growth regulators and of imbibition in water on the production of the two enzymes, it is apparent that within these individual seed parts there may be large differences in the amount of enzyme activity present. Micropylar endosperms with high endo-beta-mannanase activity do not necessarily have high beta-mannosidase activity, and vice versa, which is indicative of a lack of co-ordination of the activities of these two enzymes within individuals of a population. (+info)Beta-mannosidosis mice: a model for the human lysosomal storage disease. (2/3)
Beta-mannosidase, a lysosomal enzyme which acts exclusively at the last step of oligosaccharide catabolism in glycoprotein degradation, functions to cleave the unique beta-linked mannose sugar found in all N-linked oligosaccharides of glycoproteins. Deficiency of this enzyme results in beta-mannosidosis, a lysosomal storage disease characterized by the cellular accumulation of small oligosaccharides. In human beta-mannosidosis, the clinical presentation is variable and can be mild, even when caused by functionally null mutations. In contrast, two existing ruminant animal models have disease that is consistent and severe. To further explore the molecular pathology of this disease and to investigate potential treatment strategies, we produced a beta-mannosidase knockout mouse. Homozygous mutant mice have undetectable beta-mannosidase activity. General appearance and growth of the knockout mice are similar to the wild-type littermates. At >1 year of age, these mice exhibit no dysmorphology or overt neurological problems. The mutant animals have consistent cytoplasmic vacuolation in the central nervous system and minimal vacuolation in most visceral organs. Thin-layer chromatography demonstrated an accumulation of disaccharide in epididymis and brain. This mouse model closely resembles human beta-mannosidosis and provides a useful tool for studying the phenotypic variation in different species and will facilitate the study of potential therapies for lysosomal storage diseases. (+info)A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant. (3/3)
(+info)
Reactome | MANBA hydrolyses GlcNAc:Man
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SWISS-MODEL Template Library | 6t75
List of OMIM disorder codes
LMNA Mannosidosis, alpha-, types I and II; 248500; MAN2B1 Mannosidosis, beta; 248510; MANBA Maple syrup urine disease, type Ia ... Hispanic gamma-delta-beta; 604131; LCRB Thalassemia-beta, dominant inclusion-body; 603902; HBB Thalassemias, alpha-; 604131; ... NLRP3 Mucolipidosis II alpha/beta; 252500; GNPTAB Mucolipidosis III alpha/beta; 252600; GNPTAB Mucolipidosis III gamma; 252605 ... Isolated 17,20-lyase deficiency; 202110; CYP17A1 17-alpha-hydroxylase/17,20-lyase deficiency; 202110; CYP17A1 17-beta- ...
Mannosidase
There are two types: alpha-Mannosidase beta-Mannosidase A deficiency is associated with mannosidosis. A family of mannosidases ...
Lysosomal storage disease
Wolman disease Oligosaccharide Alpha-mannosidosis Beta-mannosidosis Aspartylglucosaminuria Fucosidosis Lysosomal transport ... Mannosidosis Molecular chaperone therapy Platt, Frances M.; d'Azzo, Alessandra; Davidson, Beverly L.; Neufeld, Elizabeth F.; ... Beta-galactosidase / GM1 gangliosidosis Infantile Juvenile Adult / chronic GM2 gangliosidosis AB variant Activator deficiency ...
List of MeSH codes (C18)
... alpha-mannosidosis MeSH C18.452.648.202.607.750 - beta-mannosidosis MeSH C18.452.648.202.670 - mucolipidoses MeSH C18.452. ... alpha-mannosidosis MeSH C18.452.648.595.577.750 - beta-mannosidosis MeSH C18.452.648.595.600 - mucopolysaccharidoses MeSH ...
List of MeSH codes (C16)
... alpha-mannosidosis MeSH C16.320.565.202.607.750 - beta-mannosidosis MeSH C16.320.565.202.670 - mucolipidoses MeSH C16.320. ... alpha-mannosidosis MeSH C16.320.565.580.577.750 - beta-mannosidosis MeSH C16.320.565.580.600 - mucopolysaccharidoses MeSH ... beta-thalassemia MeSH C16.320.077.090 - anemia, Diamond-Blackfan MeSH C16.320.077.280 - fanconi anemia MeSH C16.320.099.037 - ... beta-thalassemia MeSH C16.320.400.024 - Alexander disease MeSH C16.320.400.050 - amyloid neuropathies, familial MeSH C16.320. ...
List of diseases (B)
Berylliosis Beta ketothiolase deficiency Beta-galactosidase-1 deficiency Beta-mannosidosis Beta-sarcoglycanopathy Beta- ... psychotic disorder Bright's disease Brittle bone disease Brittle bone syndrome lethal type Brittle cornea syndrome Broad beta ...
Beta-mannosidase
"Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis". ... Beta-mannosidase (EC 3.2.1.25, mannanase, mannase, beta-D-mannosidase, beta-mannoside mannohydrolase, exo-beta-D-mannanase, ... Mutations in this gene are associated with beta-mannosidosis, a lysosomal storage disease that has a wide spectrum of ... This enzyme catalyses the following chemical reaction Hydrolysis of terminal, non-reducing beta-D-mannose residues in beta-D- ...
Mannosidosis
... is a deficiency in mannosidase, an enzyme. There are two types: Alpha-mannosidosis Beta-mannosidosis Swainsonine ... Mannosidosis at the US National Library of Medicine Medical Subject Headings (MeSH) v t e (All stub articles, Disease stubs, ...
Beta-mannosidosis
... via lectin histochemistry to distinguish between α-mannosidosis and beta-mannosidosis. In terms of beta-mannosidosis treatment ... Beta-mannosidase Alpha-mannosidosis "Mannosidosis, beta A, lysosomal , Genetic and Rare Diseases Information Center (GARD) - an ... Beta-mannosidosis, also called lysosomal beta-mannosidase deficiency, is a disorder of oligosaccharide metabolism caused by ... Beta-mannosidosis is inherited in an autosomal recessive manner. Affected individuals appear normal at birth, and can have a ...
List of diseases (M)
... genetic types Mannosidosis Manouvrier syndrome Mansonelliasis Mantle cell lymphoma Marashi-Gorlin syndrome Marburg fever ... Myoshi type Muscular dystrophy limb-girdle with beta-sarcoglycan deficiency Muscular dystrophy limb-girdle with delta- ... wasting renal Major depressive disorder Mal de debarquement Malakoplakia Malaria Male pseudohermaphroditism due to 17-beta- ...
Code System Concept
... beta-Aminoisobutyricaciduria (disorder) {21529005 , SNOMED-CT } Beta-mercaptolactate cysteine disulfiduria (disorder) { ... Mannosidosis (disorder) {65524005 , SNOMED-CT } Mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation ( ... Cystathionine beta-synthase deficiency (disorder) {24308003 , SNOMED-CT } Cystic fibrosis (disorder) {190905008 , SNOMED-CT } ... Laminin subunit beta 2 related infantile-onset nephrotic syndrome (disorder) {771447009 , SNOMED-CT } Laron syndrome with ...
MedlinePlus: Genetic Conditions: B
Beta thalassemia. *Beta-alanine synthase deficiency, see Beta-ureidopropionase deficiency. *Beta-D-mannosidosis, see Beta- ... Beta-glucuronidase deficiency, see Mucopolysaccharidosis type VII. *Beta-hexosaminidase-beta-subunit deficiency, see Sandhoff ... Blue baby syndrome, see Methemoglobinemia, beta-globin type. *BMCC deficiency, see 3-methylcrotonyl-CoA carboxylase deficiency ... BPAN, see Beta-propeller protein-associated neurodegeneration. *BPES, see Blepharophimosis, ptosis, and epicanthus inversus ...
Lysosomal Storage Disease: Overview, Classification of Lysosomal Storage Diseases, Glycogen Storage Disease Type II
Alpha-mannosidosis and beta-mannosidosis (See Alpha-Mannosidosis and Beta-Mannosidosis for detailed information.) ... In 1998, Alkhayat et al reviewed the manifestations of beta-mannosidosis. They noted that beta-mannosidosis manifests with ... Alpha-Mannosidosis and Beta-Mannosidosis. Lysosomal alpha-mannosidase is a major exoglycosidase in the glycoprotein degradation ... Beta-mannosidosis is an autosomal recessive lysosomal storage disease resulting from a deficiency of the lysosomal enzyme beta- ...
MedlinePlus: Genetic Conditions: D
Deficiency of beta-ureidopropionase, see Beta-ureidopropionase deficiency. *Deficiency of butyryl-CoA dehydrogenase, see Short- ... Deficiency of alpha-mannosidase, see Alpha-mannosidosis. *Deficiency of aromatic-L-amino-acid decarboxylase, see Aromatic l- ... Deficiency of steroid 11-beta-monooxygenase, see Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ...
Code System Concept
Beta-D-mannosidosis (disorder) {238047006 , SNOMED-CT } Mannosidosis, type I (disorder) {62311004 , SNOMED-CT } Mannosidosis, ... Mannosidosis (disorder) {65524005 , SNOMED-CT } Parent/Child (Relationship Type) ...
Angiokeratoma Corporis Diffusum (Fabry Disease) Medication: Anticonvulsants, Enzymes, Metabolic
Angiokeratoma corporis diffusum in human beta-mannosidosis: Report of a new case and a novel mutation. J Am Acad Dermatol. 2007 ... Agalsidase beta (Fabrazyme) is manufactured by Genzyme Corporation (Cambridge, Mass) and is based on the expression of the ... 50] found that patients can be switched form alpha-galactosidase to agalsidase beta with no ill effect after 1 year follow-up. ... Clinical observations on enzyme replacement therapy in patients with Fabry disease and the switch from agalsidase beta to ...
Angiokeratoma Corporis Diffusum (Fabry Disease) Clinical Presentation: History, Physical Examination, Complications
Angiokeratoma corporis diffusum in human beta-mannosidosis: Report of a new case and a novel mutation. J Am Acad Dermatol. 2007 ... Clinical observations on enzyme replacement therapy in patients with Fabry disease and the switch from agalsidase beta to ...
Sialidosis (Mucolipidosis I) Medication
Disorders of glycoprotein degradation: alpha-mannosidosis, beta-mannosidosis, fucosidosis, and sialidosis. The Metabolic & ...
Sialidosis (Mucolipidosis I) Clinical Presentation: History, Physical, Causes
Disorders of glycoprotein degradation: alpha-mannosidosis, beta-mannosidosis, fucosidosis, and sialidosis. The Metabolic & ...
Lysosomal Storage Disease: Overview, Classification of Lysosomal Storage Diseases, Glycogen Storage Disease Type II
Alpha-mannosidosis and beta-mannosidosis (See Alpha-Mannosidosis and Beta-Mannosidosis for detailed information.) ... In 1998, Alkhayat et al reviewed the manifestations of beta-mannosidosis. They noted that beta-mannosidosis manifests with ... Alpha-Mannosidosis and Beta-Mannosidosis. Lysosomal alpha-mannosidase is a major exoglycosidase in the glycoprotein degradation ... Beta-mannosidosis is an autosomal recessive lysosomal storage disease resulting from a deficiency of the lysosomal enzyme beta- ...
Code System Concept
Aspartylglucosaminuria (disorder) {54954004 , SNOMED-CT } Combined deficiency of sialidase AND beta galactosidase (disorder) { ... Mannosidosis (disorder) {65524005 , SNOMED-CT } Sialic storage disease (disorder) {278991002 , SNOMED-CT } ...
NAGA gene: MedlinePlus Genetics
Michalski JC, Klein A. Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N- ...
Angiokeratoma Corporis Diffusum (Fabry Disease): Background, Pathophysiology, Etiology
Angiokeratoma corporis diffusum in human beta-mannosidosis: Report of a new case and a novel mutation. J Am Acad Dermatol. 2007 ... 7] in 2007, reported a 36-year-old Arab woman with beta-mannosidosis who presented with mental retardation and multiple ... beta-mannosidosis, Kanzaki disease, and aspartylglucosaminuria. [2] Additionally, angiokeratoma corporis diffusum has been ... Clinical observations on enzyme replacement therapy in patients with Fabry disease and the switch from agalsidase beta to ...
Sialidosis (Mucolipidosis I): Background, Pathophysiology, Epidemiology
Disorders of glycoprotein degradation: alpha-mannosidosis, beta-mannosidosis, fucosidosis, and sialidosis. The Metabolic & ... been described with a clinical phenotype consistent with type II sialidosis and a combined deficiency of neuraminidase and beta ...
Sialidosis (Mucolipidosis I) Differential Diagnoses
Disorders of glycoprotein degradation: alpha-mannosidosis, beta-mannosidosis, fucosidosis, and sialidosis. The Metabolic & ...
Sialidosis (Mucolipidosis I): Background, Pathophysiology, Epidemiology
Disorders of glycoprotein degradation: alpha-mannosidosis, beta-mannosidosis, fucosidosis, and sialidosis. The Metabolic & ... been described with a clinical phenotype consistent with type II sialidosis and a combined deficiency of neuraminidase and beta ...
Sialidosis (Mucolipidosis I) Differential Diagnoses
Disorders of glycoprotein degradation: alpha-mannosidosis, beta-mannosidosis, fucosidosis, and sialidosis. The Metabolic & ...
Beta-mannosidosis: MedlinePlus Genetics
Beta-mannosidosis is a rare inherited disorder affecting the way certain sugar molecules are processed in the body. Explore ... medlineplus.gov/genetics/condition/beta-mannosidosis/ Beta-mannosidosis. ... Mutations in the MANBA gene cause beta-mannosidosis.. The MANBA gene provides instructions for making the enzyme beta- ... Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis. ...
Beta-mannosidosis - Wikipedia
... via lectin histochemistry to distinguish between α-mannosidosis and beta-mannosidosis. In terms of beta-mannosidosis treatment ... Beta-mannosidase Alpha-mannosidosis "Mannosidosis, beta A, lysosomal , Genetic and Rare Diseases Information Center (GARD) - an ... Beta-mannosidosis, also called lysosomal beta-mannosidase deficiency, is a disorder of oligosaccharide metabolism caused by ... Beta-mannosidosis is inherited in an autosomal recessive manner. Affected individuals appear normal at birth, and can have a ...
Beta-Mannosidosis
How Common is Beta-Mannosidosis? Beta-mannosidosis is believed to be a very rare disorder. Approximately 20 affected ... A list of labs providing testing for Beta-Mannosidosis.. *• OMIM: Technical information about the genetics of Beta-Mannosidosis ... Meet people with Beta-Mannosidosis My name is Kendreona and Im a 12yr old from the USA. I love being outdoors, listening/ ... PubMed: Published papers about Beta-Mannosidosis can be found here.. Patient Support Groups. *• ISMRD is the international ...
Beta Mannosidosis DNA Test | Resero Genomics
Niemann-Pick disease | Radiology Reference Article | Radiopaedia.org
"Computational comparison of β-mannosidases of animals, humans, microbe" by ZAHOOR QADIR SAMRA and MUHAMMAD AMIN ATHAR
The 3D structure comparison of MANB will be helpful to understand the disease process of \beta-mannosidosis. ... beta-mannosidosis. MANB amino acid sequences of humans, other mammals, plants, fungi, and bacteria were compared to determine ... The 3D structure prediction indicated differences in the α-helix loop, while the \beta-pleated sheets were nearly the same. The ... The catalytic nucleophilic and proton donor sites were conserved in the /beta-mannosidase of mammals, plants, fungi, and ...
MANN - Overview: Alpha-Mannosidase, Leukocytes
Diagnosis of alpha-mannosidosis This test is not useful for establishing carrier status for alpha-mannosidosis. ... 2. Thomas GH: Disorders of glycoprotein degradation: alpha-mannosidosis, beta-mannosidosis, fucosidosis, and sialidosis. In: ... Beta-glucuronidase deficiency. Humangenetik. 1974 Jul;23[2]:149-158. doi: 10.1007/BF00282212; Cowan T, Pasquali M: Laboratory ... Alpha-mannosidosis is an autosomal recessive lysosomal storage disorder caused by reduced or absent acid alpha-mannosidase ...
Stim2 Mouse Gene Details | stromal interaction molecule 2 | International Mouse Phenotyping Consortium
Code System Concept
Sialidosis (Mucolipidosis I): Background, Pathophysiology, Epidemiology
Shank3 Mouse Gene Details | SH3 and multiple ankyrin repeat domains 3 | International Mouse Phenotyping Consortium
Steven Walkley, Albert Einstein College of Medicine - Rare… | AAC&U
His lab spearheaded research on the use of bone marrow transplantation for the treatment of alpha-mannosidosis, as well as ... miglustat and hydroxypropyl beta-cyclodextrin for treatment of Niemann-Pick type C disease. He has published more than 100 ... the International Society for Mannosidosis and Related Disorders (ISMRD), and the National Tay-Sachs and Allied Diseases (NTSAD ...
Metabolic Diseases, Disorders, and Health Challenges < Nutritional and Metabolic Diseases << Diseases <<< Sick Care Systems ...
DeCS Ingl s
beta Mannosidase Deficiency .. beta Mannosidosis .. beta-Mannosidase Deficiencies .. beta-Mannosidoses .. Mannosidosis, beta A ... beta-Mannosidosis .. Lysosomal beta A Mannosidosis .. Lysosomal beta-Mannosidase Deficiency .. beta-Mannosidase Deficiency .. ... alpha-Mannosidosis .. Alpha-D-Mannosidosis .. Alpha-Mannosidase B Deficiency .. Alpha-Mannosidosis, Type I .. Lysosomal Alpha B ... C18.452.648.595.577.500 alpha-Mannosidosis .. C18.452.648.595.577.750 beta-Mannosidosis .. Termos. Sin nimos e Hist ricos ...
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Plasma concentration of the _-mannosidosis specific oligosaccharide was approximately 75 fold that of controls. The plasma beta ... In humans with _-mannosidosis, behavioral changes, deafness, and mental disabilities are noted as early as a few months of age ... Canine _-mannosidosis. The clinical signs in this dog were consistent with a central and peripheral neuropathy. The ... The truncated beta-mannosidase enzymeis expected to be dysfunctional. This enzyme deficiency causes the accumulation of un- ...
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Alpha-mannosidosis - Summarized by Plex.page | Health | Summarization
Alpha-mannosidosis is a rare inherited disorder that causes issues in many body organs and tissues of the body. Affected ... Alpha-mannosidosis is a rare inherited disorder that causes issues in many body organs and tissues of the body. Affected ... People with later-onset alpha-mannosidosis might endure into their fifties. * Please keep in mind that all text is summarized ... The symptoms and signs of alpha-mannosidosis can range from mild to extreme. People with this early-onset type of alpha- ...
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These enzymes, beta-hexosaminidase A and beta-hexosaminidase B, function in nerve cells to break down fatty substances, complex ... Mucolipidosis - I-cell disease - Pseudo-Hurler polydystrophy - Aspartylglucosaminuria - Fucosidosis - Alpha-mannosidosis - ... In particular, beta-hexosaminidase A breaks down a fatty compound called GM2 ganglioside. Mutations in the HEXB gene disrupt ...
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Fluorinated Chaperone-beta-Cyclodextrin Formulations for beta-Glucocerebrosidase Activity Enhancement in Neuronopathic Gaucher ... Screening sp(2)-iminosugar N-glycosides as pharmacological chaperone candidates for a mannosidosis: the effect of aglycone ... Thioureido-beta-cyclodextrins as molecular carriers CHEMICAL COMMUNICATIONS. Nota. 1995. A mild and efficient procedure to ... Thioureido beta-cyclodextrins as molecular carriers for the anticancer drug Taxotere (R) MOLECULAR RECOGNITION AND INCLUSION. ...
Lysosomal beta-mannosidase deficiency1
- Beta-mannosidosis, also called lysosomal beta-mannosidase deficiency, is a disorder of oligosaccharide metabolism caused by decreased activity of the enzyme beta-mannosidase. (wikipedia.org)
Autosomal recessive2
- Beta-mannosidosis is inherited in an autosomal recessive manner. (wikipedia.org)
- Alpha-mannosidosis is an autosomal recessive lysosomal storage disorder caused by reduced or absent acid alpha-mannosidase enzyme activity. (mayocliniclabs.com)
Deficiency2
- Some patients have been described with a clinical phenotype consistent with type II sialidosis and a combined deficiency of neuraminidase and beta-galactosidase. (medscape.com)
- GM1 gangliosidosis is due to an inherited deficiency of the enzyme beta-galactosidase, whereas GM2 gangliosidosis is caused by a lack of the enzyme beta-hexosaminidase. (labogen.com)
Rare inherited disorder2
- Beta-mannosidosis is a rare inherited disorder affecting the way certain sugar molecules are processed in the body. (medlineplus.gov)
- Alpha-mannosidosis is a rare inherited disorder that causes issues in many body organs and tissues of the body. (plex.page)
Genetics1
- Technical information about the genetics of Beta-Mannosidosis. (ismrd.org)
ISMRD1
- Dr. Walkley serves on the scientific advisory boards of numerous rare genetic disease groups - the National MPS Society, the International Society for Mannosidosis and Related Disorders (ISMRD), and the National Tay-Sachs and Allied Diseases (NTSAD) foundation. (aacu.org)
Signs and symptoms3
- Signs and symptoms of beta-mannosidosis vary widely in severity, and the age of onset ranges between infancy and adolescence. (medlineplus.gov)
- These disaccharides gradually accumulate in the lysosomes and cause cells to malfunction, resulting in the signs and symptoms of beta-mannosidosis. (medlineplus.gov)
- Other people with alpha-mannosidosis experience milder signs and symptoms that show up later and advance more gradually. (plex.page)
MANBA4
- Mutations in the MANBA gene cause beta-mannosidosis. (medlineplus.gov)
- The MANBA gene provides instructions for making the enzyme beta-mannosidase. (medlineplus.gov)
- Mutations in the MANBA gene interfere with the ability of the beta-mannosidase enzyme to perform its role in breaking down mannose-containing disaccharides. (medlineplus.gov)
- In terms of causation several mutations in the MANBA gene is the cause of beta-mannosidosis. (wikipedia.org)
Disorder1
- Beta-mannosidosis is believed to be a very rare disorder. (medlineplus.gov)
Syndrome1
- The initial affected individual described in 1986 had a complex phenotype, and was later found to have both beta-mannosidosis and Sanfilippo syndrome. (wikipedia.org)
Mutations1
- Variable clinical presentation of lysosomal beta-mannosidosis in patients with null mutations. (medlineplus.gov)
Biochemical1
- Uchino Y, Fukushige T, Yotsumoto S, Hashiguchi T, Taguchi H, Suzuki N, Konohana I, Kanzaki T. Morphological and biochemical studies of human beta-mannosidosis: identification of a novel beta-mannosidase gene mutation. (medlineplus.gov)
Molecular1
- Gort L, Duque J, Fabeiro JM, Zulaica A, Coll MJ, Chabas A. Molecular analysis in two beta-mannosidosis patients: description of a new adult case. (medlineplus.gov)
Mice1
- Beta-mannosidosis mice: a model for the human lysosomal storage disease. (medlineplus.gov)
Clinical1
- Because of its rarity, and non-specific clinical findings, beta-mannosidosis can go undiagnosed until adulthood, where it can present with intellectual disability and behavioral problems, including aggression. (wikipedia.org)
Symptoms2
- It is difficult to determine the specific incidence of beta-mannosidosis, because people with mild or non-specific symptoms may never be diagnosed. (medlineplus.gov)
- The symptoms and signs of alpha-mannosidosis can range from mild to extreme. (plex.page)
Enzyme1
- The \beta-mannosidase (MANB) enzyme is involved in removing mannose residue from the nonreducing end, and its impaired activity leads to \beta-mannosidosis. (tubitak.gov.tr)
Alpha6
- This test is not useful for establishing carrier status for alpha-mannosidosis. (mayocliniclabs.com)
- Determining enzymatic activity is the next step of the diagnostic workup for an individual clinically suspicious for an oligosaccharidosis with a positive screening result suggestive of alpha-mannosidosis. (mayocliniclabs.com)
- His lab spearheaded research on the use of bone marrow transplantation for the treatment of alpha-mannosidosis, as well as miglustat and hydroxypropyl beta-cyclodextrin for treatment of Niemann-Pick type C disease. (aacu.org)
- People with this early-onset type of alpha-mannosidosis commonly do not make it through previous youth. (plex.page)
- People with later-onset alpha-mannosidosis might endure into their fifties. (plex.page)
- The three dimensional structure contains 5 domains, the alpha/beta barrel, 3alpha-bundle and three beta-domains beta1-beta3. (jupiter.no)
People2
- People with beta-mannosidosis may experience an increased risk of respiratory and ear infections, hearing loss, speech impairment, swallowing difficulties, poor muscle tone (hypotonia), and reduced sensation or other nervous system abnormalities in the extremities (peripheral neuropathy). (medlineplus.gov)
- What other names do people use for Beta-Mannosidosis? (ismrd.org)
References1
- This is an excellent description of Beta-Mannosidosis with many references to other information and resources. (ismrd.org)
Experience1
- Almost all individuals with beta-mannosidosis experience intellectual disability, and some have delayed motor development and seizures. (medlineplus.gov)
Found1
- Published papers about Beta-Mannosidosis can be found here. (ismrd.org)
Disease1
- The 3D structure comparison of MANB will be helpful to understand the disease process of \beta-mannosidosis. (tubitak.gov.tr)
Molecules2
- Beta-mannosidase is involved in the last step of this process, helping to break down complexes of two sugar molecules (disaccharides) containing a sugar molecule called mannose. (medlineplus.gov)
- These enzymes, beta-hexosaminidase A and beta-hexosaminidase B, function in nerve cells to break down fatty substances, complex sugars, and molecules that are linked to sugars. (bionity.com)
Alpha-Mannosidosis1
- The International Society for Mannosidosis and Related Diseases (ISMRD) is an internationally focused not-for-proft organization whose mission is to advocate for families and patients affected by one of the following disorders: Alpha-Mannosidosis, Aspartylglucosaminuria, Beta-Mannosidosis, Fucosidosis, Galactosialidosis, Mucolipidosis I (Sialidosis), Mucolipidosis II alpha/beta (I-Cell Disease), Mucolipidosis III alpha/beta (Pseudo-Hurler Polydystrophy), Mucolipidosis III Gamma, and Schindler Disease. (worldsymposia.org)
Mutations1
- Mutations in this gene are associated with beta-mannosidosis, a lysosomal storage disease that has a wide spectrum of neurological involvement. (utsouthwestern.edu)