Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome

Human Molecular Genetics

Volumn 22, Issue 18, 2013, Pages 3761-3772

  Müller, Thomas ^a   Mizumoto, Shuji ^b   Suresh, Indrajit ^c   Komatsu, Yoshie ^b   Vodopiutz, Julia ^d   Dundar, Munis ^e   Straub, Volker ^f   Lingenhel, Arno ^a   Melmer, Andreas ^a   Lechner, Silvia ^a   Zschocke, Johannes ^a   Sugahara, Kazuyuki ^b   Janecke, Andreas R ^a  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^b HOKKAIDO UNIVERSITY   (Japan)

^c JSS ACADEMY OF HIGHER EDUCATION AND RESEARCH   (India)

^d UNIV KLIN KINDER JUGENDHEILKUNDE   (Austria)

^e ERCIYES UNIVERSITY   (Turkey)

^f NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CHONDROITIN ABC LYASE; DECORIN; DERMATAN SULFATE; DERMATAN SULFATE EPIMERASE; EPIMERASE; SQUAMOUS CELL CARCINOMA ANTIGEN; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CELLULAR DISTRIBUTION; CHILD; CONTROLLED STUDY; EHLERS DANLOS SYNDROME; ENDOPLASMIC RETICULUM; ENZYME SPECIFICITY; EPIMERIZATION; HETEROLOGOUS EXPRESSION; HUMAN; MALE; MISSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN FUNCTION; SINGLE NUCLEOTIDE POLYMORPHISM; STABLE EXPRESSION; STABLE TRANSFECTION;

ANTIGENS, NEOPLASM; CELLS, CULTURED; CHILD, PRESCHOOL; CONSANGUINITY; DECORIN; DERMATAN SULFATE; DISACCHARIDES; DNA-BINDING PROTEINS; EHLERS-DANLOS SYNDROME; EXTRACELLULAR MATRIX; GENETIC HETEROGENEITY; HUMANS; MALE; MUTATION, MISSENSE; NEOPLASM PROTEINS; SULFOTRANSFERASES;

EID: 84883015654     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddt227     Document Type: Article

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