EC Number   |
General Information |
Reference |
|---|
   3.2.1.46 | malfunction |
heterozygote galactocerebrosidase mutants have reduced remyelination and impaired myelin debris clearance following demyelinating injury |
750721 |
| 3.2.1.46 | malfunction |
Krabbe disease (globoid cell leukodystrophy) is an often fatal lysosomal storage disease caused by the deficiency of the enzyme galactocerebrosidase, resulting in the loss of the myelin sheath in the central nervous system |
750343 |
| 3.2.1.46 | malfunction |
Krabbe disease is a lysosomal storage disease caused by the deficiency of the lysosomal enzyme beta-galactocerebrosidase, resulting in severe neurological manifestations related to demyelination secondary to elevated galactosylsphingosine (psychosine) with its subsequent cytotoxicity |
751372 |
| 3.2.1.46 | malfunction |
Krabbe's disease is a degenerative lysosomal storage disease resulting from deficiency of bgalactocerebrosidase activity. Over 100 mutations are known to cause the disease, and these usually occur in compound heterozygote patterns. In affected patients, nonsense mutations leading to a nonfunctional enzyme are often found associated with other mutations |
751373 |
| 3.2.1.46 | malfunction |
Krabbe's disease is a degenerative lysosomal storage disease resulting from deficiency of galactocerebrosidase activity. Over 100 mutations are known to cause the disease, and these usually occur in compound heterozygote patterns. In affected patients, nonsense mutations leading to a nonfunctional enzyme are often found associated with other mutations |
751373 |
| 3.2.1.46 | malfunction |
Krabbe's disease, or globoid leukodystrophy, is an autosomal recessive disorder caused by a deficiency of galactocerebrosidase activity. Several variants in confirmed patients are identified by newborn screening for Krabbe's disease. In some cases, polymorphisms is seen in cis with these variants. These variants are expressed in COS1 cells, and the GALC activity measured is compared with known mutations and normal sequence. In some cases, the presence of polymorphisms on the same copy of the gene as a mutation results in very low galactocerebrosidase activity |
751371 |
| 3.2.1.46 | physiological function |
lysosomal galactocerebrosidase GALC is involved in the maintenance of a functional hematopoietic stem/progenitor cell niche by contributing to the control of the intracellular content of key sphingolipids. Both insufficient and supraphysiologic GALC activity by inherited genetic deficiency or forced gene expression induce alterations of the intracellular content of the bioactive GALC downstream products ceramide and sphingosine, and thus affect hematopoietic stem/progenitor cell survival and function and the functionality of the stem cell niche |
714597 |
| 3.2.1.46 | physiological function |
lysosomal galactocerebrosidase GALC, which is defective in globoid cell leukodystrophy, is involved in the maintenance of a functional hematopoietic stem/progenitor cell niche by contributing to the control of the intracellular content of key sphingolipids. Both insufficient and supraphysiologic GALC activity by inherited genetic deficiency or forced gene expression in patients' cells and in the disease model induce alterations of the intracellular content of the bioactive GALC downstream products ceramide and sphingosine, and thus affect hematopoietic stem/progenitor cell survival and function and the functionality of the stem cell niche |
714597 |
