Description:
GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Lipid Metabolism |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| PDL at Freeze |
6.56 |
| Passage Frozen |
11 |
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| beta-galactosidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.23; <1% activity. |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Remarks |
Less than 1% of normal beta-galactosidase and normal sialidase activity; short stature; developmental delay; cherry-red spots; both parents have less than normal beta-galactosidase activity |
| Leclerc D, Goujon L, Jaillard S, Nouyou B, Cluzeau L, Damaj L, Dubourg C, Etcheverry A, Levade T, Froissart R, Dréano S, Guillory X, Eriksson LA, Launay E, Mouriaux F, Belaud-Rotureau MA, Odent S, Gilot D, Gene Editing Corrects The CRISPR journal6:17-31 2023 |
| PubMed ID: 36629845 |
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| Latour YL, Yoon R, Thomas SE, Grant C, Li C, Sena-Esteves M, Allende ML, Proia RL, Tifft CJ, Human Molecular genetics and metabolism reports21:100513 2019 |
| PubMed ID: 31534909 |
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| Ahern-Rindell AJ, Murnane RD, Prieur DJ, Interspecific genetic complementation analysis of human and sheep fibroblasts with beta-galactosidase deficiency. Somat Cell Mol Genet15:525-33 1989 |
| PubMed ID: 2512653 |
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| Kobayashi T, Shinnoh N, Kuroiwa Y, Incorporation and degradation of GM1 ganglioside and asialoGM1 ganglioside in cultured fibroblasts from normal individuals and patients with beta-galactosidase deficiency. Biochim Biophys Acta875:115-21 1986 |
| PubMed ID: 3079639 |
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| Fedde KN, Sly WS, Ricin-binding properties of acid hydrolases from isolated lysosomes implies prior processing by terminal transferases of the trans-Golgi apparatus. Biochem Biophys Res Commun133:614-20 1985 |
| PubMed ID: 2935147 |
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| Kobayashi T, Shinnoh N, Goto I, Kuroiwa Y, Hydrolysis of galactosylceramide is catalyzed by two genetically distinct acid beta-galactosidases. J Biol Chem260:14982-7 1985 |
| PubMed ID: 3934152 |
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| Kobayashi T, Shinnoh N, Goto I, Kuroiwa Y, Okawauchi M, Sugihara G, Tanaka M, Galactosylceramide- and lactosylceramide-loading studies in cultured fibroblasts from normal individuals and patients with globoid cell leukodystrophy (Krabbe's disease) and GM1-gangliosidosis. Biochim Biophys Acta835:456-64 1985 |
| PubMed ID: 3926002 |
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| Mueller OT, Wenger DA, Mucolipidosis I: studies of sialidase activity and a prenatal diagnosis. Clin Chim Acta109:313-24 1981 |
| PubMed ID: 7226521 |
| dbSNP |
dbSNP ID: 18463 |
| Gene Ontology |
GO:0004565 beta-galactosidase activity |
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GO:0005764 lysosome |
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GO:0005975 carbohydrate metabolism |
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GO:0009341 beta-galactosidase complex |
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GO:0016798 hydrolase activity, acting on glycosyl bonds |
| NCBI Gene |
Gene ID:2720 |
| NCBI GTR |
230500 GM1-GANGLIOSIDOSIS, TYPE I |
| OMIM |
230500 GM1-GANGLIOSIDOSIS, TYPE I |
| Omim Description |
BETA-GALACTOSIDASE-1 DEFICIENCY |
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GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I |
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GLB1 DEFICIENCYGALACTOSIDASE, BETA-1; GLB1, INCLUDED |
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MORQUIO DISEASE, TYPE B, INCLUDED |
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MPS IVB, INCLUDED |
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MUCOPOLYSACCHARIDOSIS TYPE IVB, INCLUDED |
| Passage Frozen |
11 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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