Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing

Journal of Biological Chemistry

Volumn 285, Issue 25, 2010, Pages 19391-19401

  Tapia, Victor E ^a   Nicolaescu, Emilia ^b   McDonald, Caleb B ^c   Musi, Valeria ^d   Oka, Tsutomu ^e   Inayoshi, Yujin ^e   Satteson, Adam C ^e   Mazack, Virginia ^e   Humbert, Jasper ^e   Gaffney, Christian J ^e   Beullens, Monique ^b   Schwartz, Charles E ^f   Landgraf, Christiane ^a   Volkmer, Rudolf ^a   Pastore, Annalisa ^d   Farooq, Amjad ^c   Bollen, Mathieu ^b   Sudol, Marius ^e,g  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b UNIVERSITY OF LEUVEN   (Belgium)

^c UNIVERSITY OF MIAMI   (United States)

^d NATIONAL INSTITUTE FOR MEDICAL RESEARCH   (United Kingdom)

^e WEIS CENTER FOR RESEARCH   (United States)

^f GREENWOOD GENETIC CENTER   (United States)

^g MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AROMATIC AMINO ACID; BINDING ACTIVITIES; BINDING PROPERTIES; BINDING PROTEINS; FUNCTIONAL DOMAINS; GENE ENCODES; MENTAL RETARDATION; MOLECULAR MECHANISM; MUTANT PROTEINS; NUCLEAR PROTEINS; POLYGLUTAMINE; PRE-MRNA; SPLICING FACTORS; WW DOMAIN; X CHROMOSOMES;

AMINO ACIDS; BINDING ENERGY; CHROMOSOMES; ORGANIC ACIDS; PHOSPHATASES; TRANSCRIPTION;

PROTEINS;

AROMATIC AMINO ACID; BINDING PROTEIN; CYSTEINE; LIGAND; MESSENGER RNA; POLYGLUTAMINE TRACT BINDING PROTEIN 1; PROTEIN PQBP1; TYROSINE; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; CELL STRAIN HEK293; CONTROLLED STUDY; GOLABI ITO SYNDROME; HUMAN; HUMAN CELL; HUMAN CELL CULTURE; ISOTHERMAL TITRATION CALORIMETRY; LYMPHOBLAST; MENTAL DEFICIENCY; MISSENSE MUTATION; MOLECULAR MECHANICS; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN PURIFICATION; PROTEIN STABILITY; RNA SPLICING; SPECTROSCOPY; X CHROMOSOME LINKED DISORDER;

ALTERNATIVE SPLICING; CALORIMETRY; CARRIER PROTEINS; CIRCULAR DICHROISM; HUMANS; LIGANDS; LYMPHOCYTES; MAGNETIC RESONANCE SPECTROSCOPY; MENTAL RETARDATION; MUTATION; MUTATION, MISSENSE; NUCLEAR PROTEINS; PROLINE; PROTEIN STRUCTURE, TERTIARY; SURFACE PLASMON RESONANCE; TRANSCRIPTION, GENETIC;

EID: 77953500547     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M109.084525     Document Type: Article

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