Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome-Reference-Cited by-同舟云学术

Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome

Published:2011-06-10 Issue:7 Volume:155 Page:1634-1639
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Muschol Nicole,Pohl Sandra,Meyer Ann,Gal Andreas,Ullrich Kurt,Braulke Thomas

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference31 articles.

1. Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): Identification of 13 novel mutations;Beesley;J Med Genet,2000

2. Sorting of lysosomal proteins;Braulke;Biochim Biophys Acta,2009

3. Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A);Bunge;Hum Mutat,1997

4. Imino sugar inhibitors for treating the lysosomal glycosphingolipidoses;Butters;Glycobiology,2005

5. Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations;Di Natale;Hum Mutat,1998

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