Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Gregory Degala"'
Publikováno v:
Human genetics. 87(2)
Metachromatic leukodystrophy is a severe autosomal recessive disorder caused by accumulation of sulfatide resulting from deficient lysosomal degradation. While most patients have mutations in the lysosomal enzyme arylsulfatase A, some patients have m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5de919f25f1233ff65c46b06818e1cac
https://pubmed.ncbi.nlm.nih.gov/2066109
https://pubmed.ncbi.nlm.nih.gov/2066109
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America. 87(4)
The lysosomal catabolism of sulfatide requires arylsulfatase A and a specific sphingolipid activator protein, SAP-1. While most patients with metachromatic leukodystrophy have mutations in the gene for arylsulfatase A, some patients have deficient SA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ca0491f32b85785ca31fe56c5813c62
https://pubmed.ncbi.nlm.nih.gov/1689485
https://pubmed.ncbi.nlm.nih.gov/1689485
Publikováno v:
Biochemical and biophysical research communications. 166(2)
The lysosomal degradation of sulfatide requires the specific enzyme, arylsulfatase A, as well as a heat stable protein called sphingolipid activator protein-1 (SAP-1). While most patients with metachromatic leukodystrophy have defects in arylsulfatas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da108902210258c572ba77396c523f46
https://pubmed.ncbi.nlm.nih.gov/2302219
https://pubmed.ncbi.nlm.nih.gov/2302219