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...

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Autors principals: Sidhu, Navdeep S., Schreiber, Kathrin, Pröpper, Kevin, Becker, Stefan, Usón, Isabel, Sheldrick, George M., Gärtner, Jutta, Krätzner, Ralph, Steinfeld, Robert
Format: Artigo
Idioma:Inglês
Publicat: International Union of Crystallography 2014
Matèries:
Research Papers
Accés en línia: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
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