Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity

Human Molecular Genetics

Volumn 24, Issue 10, 2015, Pages 2861-2872

  Brookes, Emily ^a,b   Laurent, Benoit ^a,b   Õunap, Katrin ^c,d   Carroll, Renee ^e   Moeschler, John B ^f   Field, Michael ^g   Schwartz, Charles E ^h   Gecz, Jozef ^e   Shi, Yang ^a,b  

^a HARVARD MEDICAL SCHOOL   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c TARTU UNIVERSITY HOSPITAL   (Estonia)

^d UNIVERSITY OF TARTU   (Estonia)

^e UNIVERSITY OF ADELAIDE   (Australia)

^f DARTMOUTH MEDICAL SCHOOL   (United States)

^g Hunter Genetics   (Australia)

^h GREENWOOD GENETIC CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

HISTONE DEMETHYLASE; KDM5C PROTEIN; RNA; UNCLASSIFIED DRUG; CHROMATIN; HISTONE; KDM5C PROTEIN, HUMAN;

ADOLESCENT; ADULT; AGED; ARTICLE; CATALYSIS; CHILD; CHROMATIN; CLINICAL ARTICLE; CODON; CONFORMATION; CONTROLLED STUDY; DEMETHYLATION; ENZYME ACTIVITY; EXON; FEMALE; FIBROBLAST; GENE EXPRESSION; GENE MUTATION; HETEROZYGOTE; HISTONE METHYLATION; HUMAN; HUMAN CELL; HUMAN TISSUE; IN VITRO STUDY; INTELLECTUAL IMPAIRMENT; MALE; MISSENSE MUTATION; MOLECULAR WEIGHT; NONSENSE MEDIATED MRNA DECAY; NONSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DEPLETION; PROTEIN EXPRESSION; PROTEIN STABILITY; SCHOOL CHILD; SKIN FIBROBLAST; START CODON; TRANSLATION INITIATION; UPREGULATION; YOUNG ADULT; ENZYME STABILITY; ENZYMOLOGY; GENETICS; INFANT; METABOLISM; METHYLATION; MUTATION; X CHROMOSOMAL INHERITANCE;

ADOLESCENT; ADULT; AGED; CHILD; CHROMATIN; ENZYME STABILITY; FEMALE; GENES, X-LINKED; HISTONE DEMETHYLASES; HISTONES; HUMANS; INFANT; INTELLECTUAL DISABILITY; MALE; METHYLATION; MUTATION; YOUNG ADULT;

EID: 84929736083     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddv046     Document Type: Article

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