Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA

Mucopolysaccharidosis type IIIA (Sanfilippo A syndrome), a fatal childhood-onset neurodegenerative disease with mild facial, visceral and skeletal abnormalities, is caused by an inherited deficiency of the enzyme N-sulfoglucosamine sulfohydrolase (SGSH; sulfamidase). More than 100 mutations in the S...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Sidhu, Navdeep S., Schreiber, Kathrin, Pröpper, Kevin, Becker, Stefan, Usón, Isabel, Sheldrick, George M., Gärtner, Jutta, Krätzner, Ralph, Steinfeld, Robert
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: International Union of Crystallography 2014
Pynciau:
Research Papers
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4014121/
https://ncbi.nlm.nih.gov/pubmed/24816101
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1107/S1399004714002739
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg