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Literature summary for 3.2.1.46 extracted from

  • Visigalli, I.; Ungari, S.; Martino, S.; Park, H.; Cesani, M.; Gentner, B.; Sergi Sergi, L.; Orlacchio, A.; Naldini, L.; Biffi, A.
    The galactocerebrosidase enzyme contributes to the maintenance of a functional hematopoietic stem cell niche (2010), Blood, 116, 1857-1866.
    View publication on PubMedView publication on EuropePMC

Application

Application Comment Organism
medicine 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 Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
lysosome
-
Mus musculus 5764
-
lysosome
-
Homo sapiens 5764
-

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-
Mus musculus
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
hematopoietic stem cell
-
Mus musculus
-
hematopoietic stem cell
-
Homo sapiens
-
U-937 cell
-
Homo sapiens
-

General Information

General Information Comment Organism
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 Mus musculus
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 Homo sapiens