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

American Journal of Medical Genetics, Part A

Volumn 155, Issue 7, 2011, Pages 1634-1639

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

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

Expression studies; Lysosomal storage disorder; MPS IIIA; Proteasomal degradation; Sanfilippo syndrome type A; SGSH

Indexed keywords

LYSOSOME ENZYME; MUTANT PROTEIN; PROLINE; PROTEASOME; SERINE; SULFAMIDASE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ANIMAL CELL; ARTICLE; CELL STRAIN BHK; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; ENZYME ACTIVITY; ENZYME SYNTHESIS; FEMALE; HUMAN; LYSOSOME; MALE; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DEGRADATION; PROTEIN EXPRESSION; PROTEIN PROCESSING; PROTEIN SECRETION; PROTEIN TRANSPORT; SANFILIPPO SYNDROME; SCHOOL CHILD;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ANIMALS; CELL LINE; CHILD; CHILD, PRESCHOOL; CRICETINAE; ENZYME STABILITY; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; HYDROLASES; MALE; MUCOPOLYSACCHARIDOSIS III; MUTATION; PHENOTYPE; PROTEASOME ENDOPEPTIDASE COMPLEX; YOUNG ADULT;

EID: 79959503578     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34053     Document Type: Article

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