Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Gregory de Gala"'
Publikováno v:
Human molecular genetics. 2(11)
Globoid cell leukodystrophy (Krabbe disease) is an autosomal recessive disorder resulting from the deficiency of galactocerebrosidase (GALC) activity. GALC is responsible for the lysosomal catabolism of galactosylceramide, a major lipid in myelin, ki
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c342f851a30161a61a9beb02bafe4d9d
https://pubmed.ncbi.nlm.nih.gov/8281145
https://pubmed.ncbi.nlm.nih.gov/8281145
Publikováno v:
Somatic cell and molecular genetics. 19(1)
It is now clear that the lysosomal hydrolysis of sphingolipids requires both lysosomal enzymes and so-called sphingolipid activator proteins (SAPs). One gene, called prosaposin, codes for a precursor protein that is proteolytically cut into four puta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::315057fe57a57ec65de8460dd1cc7868
https://pubmed.ncbi.nlm.nih.gov/8460394
https://pubmed.ncbi.nlm.nih.gov/8460394
Publikováno v:
Human Molecular Genetics; Aug1995, Vol. 4 Issue 8, p1285-1289, 5p
Publikováno v:
Human Molecular Genetics; Nov1993, Vol. 2 Issue 11, p1841-1846, 6p
Publikováno v:
Human Mutation; 1997, Vol. 10 Issue 4, p268-279, 12p
Publikováno v:
Somatic Cell & Molecular Genetics; 1993, Vol. 19 Issue 1, p1-7, 7p
Publikováno v:
Human Genetics; 1991, Vol. 87 Issue 2, p211-215, 5p