A chondroitin synthase-1 (ChSy-1) missense mutation in a patient with neuropathy impairs the elongation of chondroitin sulfate chains initiated by chondroitin N-acetylgalactosaminyltransferase-1

Biochimica et Biophysica Acta - General Subjects

Volumn 1830, Issue 10, 2013, Pages 4806-4812

  Izumikawa, Tomomi ^a   Saigoh, Kazumasa ^b   Shimizu, Jun ^c   Tsuji, Shoji ^c   Kusunoki, Susumu ^b   Kitagawa, Hiroshi ^a  

^a KOBE PHARMACEUTICAL UNIVERSITY   (Japan)

^b KINKI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c UNIVERSITY OF TOKYO   (Japan)

Author keywords

Chondroitin sulfate; Glycosaminoglycan; Glycosyltransferase; Neuropathy; Proteoglycan

Indexed keywords

CHONDROITIN SULFATE; CHONDROITIN SYNTHASE 1 PROTEIN; CHONDROITIN SYNTHASE 2 PROTEIN; CHONDROITIN SYNTHASE 3 PROTEIN; GLUCURONIC ACID; GLYCOSYLTRANSFERASE; HYBRID PROTEIN; MUTANT PROTEIN; N ACETYLGALACTOSAMINE; N ACETYLGALACTOSAMINYLTRANSFERASE; N ACETYLGALACTOSAMINYLTRANSFERASE 1; UNCLASSIFIED DRUG;

AGED; ARTICLE; CHONDROITIN SYNTHASE 1 GENE; CHRONIC INFLAMMATORY DEMYELINATING POLYNEUROPATHY; CONTROLLED STUDY; ENZYME ACTIVITY; GUILLAIN BARRE SYNDROME; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATOR GENE; NEUROPATHY; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN POLYMERIZATION; PROTEIN PROTEIN INTERACTION; SITE DIRECTED MUTAGENESIS; SULFATION; TRANSCRIPTION ELONGATION; WILD TYPE;

ΔDI-0S; ΔDI-4S; ΔDI-6S; ΔDI-DIS(D); ΔDI-DIS(E); ΔHEXAΑ1-3GALNAC(4S); ΔHEXAΑ1-3GALNAC(4S, 6S); ΔHEXAΑ1-3GALNAC(6S); ΔHEXA(Α1-3)GALNAC; ΔHEXA(2S)Α1-3GALNAC(6S); CHGN; CHONDROITIN GALNACT; CHONDROITIN POLYMERIZING FACTOR; CHONDROITIN SULFATE; CHONDROITIN SYNTHASE; CHPF; CHSY; CS; GALNACT; GLCAT; GLUCURONYLTRANSFERASE; GLYCOSAMINOGLYCAN; GLYCOSYLTRANSFERASE; N-ACETYLGALACTOSAMINYLTRANSFERASE; NEUROPATHY; PROTEOGLYCAN;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CHONDROITIN SULFATES; DNA PRIMERS; HUMANS; MOLECULAR SEQUENCE DATA; MUTAGENESIS, SITE-DIRECTED; MUTATION, MISSENSE; N-ACETYLGALACTOSAMINYLTRANSFERASES; NERVOUS SYSTEM DISEASES; REAL-TIME POLYMERASE CHAIN REACTION; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 84880183234     PISSN: 03044165     EISSN: 18728006     Source Type: Journal    
DOI: 10.1016/j.bbagen.2013.06.017     Document Type: Article

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