Human genetic disorders caused by mutations in genes encoding biosynthetic enzymes for sulfated glycosaminoglycans

Journal of Biological Chemistry

Volumn 288, Issue 16, 2013, Pages 10953-10961

  Mizumoto, Shuji ^a   Ikegawa, Shiro ^b   Sugahara, Kazuyuki ^a  

^a HOKKAIDO UNIVERSITY   (Japan)

^b RIKEN   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL FUNCTIONS; BIOSYNTHETIC ENZYMES; CHONDROITIN SULFATES; CONNECTIVE TISSUES; GLYCOSAMINOGLYCANS; GLYCOSYLTRANSFERASES; HUMAN GENETIC DISORDERS; SULFATED GLYCOSAMINOGLYCANS;

BIOSYNTHESIS; COLLAGEN; DISEASES; ENCODING (SYMBOLS); ENZYMES; GENES; MUSCULOSKELETAL SYSTEM; SULFUR COMPOUNDS;

HYDROGELS;

CHONDROITIN SULFATE; DERMATAN SULFATE; GLYCOSAMINOGLYCAN POLYSULFATE; GLYCOSYLTRANSFERASE; HEPARAN SULFATE; PROTEOGLYCAN; SULFOTRANSFERASE;

BONE DISEASE; CONNECTIVE TISSUE DISEASE; ENZYME SYNTHESIS; GENE MUTATION; GENETIC DISORDER; HUMAN; INBORN ERROR OF METABOLISM; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SKIN DISEASE;

CHONDROITIN SULFATES; CONNECTIVE TISSUE DISEASES; DERMATAN SULFATE; GLYCOSAMINOGLYCANS; HEPARITIN SULFATE; HUMANS; METABOLISM, INBORN ERRORS;

EID: 84876520849     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.R112.437038     Document Type: Review

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