Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism

Proceedings of the National Academy of Sciences of the United States of America

Volumn 106, Issue 35, 2009, Pages 14820-14824

  Yang, Song Yu ^a   He, Xue Ying ^a   Olpin, Simon E ^b   Sutton, Vernon R ^c   McMenamin, Joe ^d   Philipp, Manfred ^e   Denman, Robert B ^a   Malik, Mazhar ^a  

^a NEW YORK STATE INSTITUTE FOR BASIC RESEARCH IN DEVELOPMENTAL DISABILITIES   (United States)

^b SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^e CITY UNIVERSITY OF NEW YORK   (United States)

Author keywords

Developmental disabilities; HSD10 deficiency; Hydroxyacyl CoA dehydrogenase

Indexed keywords

3 HYDROXY 2 METHYLBUTYRYL COENZYME A; 3ALPHA HYDROXY 5ALPHA PREGNAN 20 ONE; 4 AMINOBUTYRIC ACID A RECEPTOR; COENZYME A; HYDROXYSTEROID DEHYDROGENASE; ISOLEUCINE; MUTANT PROTEIN; NEUROSTEROID; PROTEIN SUBUNIT; UNCLASSIFIED DRUG;

ALLOSTERISM; ARTICLE; CATALYSIS; COGNITIVE DEVELOPMENT; CONTROLLED STUDY; DEHYDROGENATION; GENE; GENE IDENTIFICATION; GENE MUTATION; GENE STRUCTURE; GENETIC LINKAGE; HOMEOSTASIS; HSD17B10 GENE; HUMAN; HUMAN CELL; HYDROGEN BOND; LIPID OXIDATION; MENTAL DEFICIENCY; PRIORITY JOURNAL; PROTEIN INTERACTION; PROTEIN METABOLISM; STEROID METABOLISM;

3-HYDROXYACYL COA DEHYDROGENASES; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; BIOCATALYSIS; CELLS, CULTURED; FIBROBLASTS; HUMANS; ISOLEUCINE; MALE; MENTAL RETARDATION; MODELS, MOLECULAR; POINT MUTATION; PROTEIN STRUCTURE, TERTIARY; STEROIDS;

EID: 70349270679     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.0902377106     Document Type: Article

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