Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene

Genomics

Volumn 90, Issue 1, 2007, Pages 59-71

  Shoubridge, Cheryl ^a   Cloosterman, Desiree ^a,b   Parkinson Lawerence, Emma ^a,b   Brooks, Douglas ^a,c   Gécz, Jozef ^a,b  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^b UNIVERSITY OF ADELAIDE   (Australia)

^c UNIVERSITY OF SOUTH AUSTRALIA   (Australia)

Author keywords

ARX; Coimmunoprecipitation; Mutation; Nuclear localization sequence; Polyalanine tract; X linked mental retardation; Yeast 2 hybrid

Indexed keywords

ALANINE; GENE PRODUCT; HOMEODOMAIN PROTEIN; IMPORTIN 13; KARYOPHERIN; MUTANT PROTEIN; PROTEIN ARX; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

ANIMAL CELL; ARISTALESS RELATED HOMEOBOX GENE; ARTICLE; CELL NUCLEUS; CONTROLLED STUDY; CYTOPLASM; GENE LOCATION; GENE MUTATION; HOMEOBOX; HUMAN; HUMAN CELL; MAMMAL CELL; NONHUMAN; NUCLEAR LOCALIZATION SIGNAL; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN DEGRADATION; PROTEIN PROTEIN INTERACTION; RAT; X LINKED MENTAL RETARDATION; YEAST;

ACTIVE TRANSPORT, CELL NUCLEUS; AMINO ACID SEQUENCE; ANIMALS; CELL DEATH; CELL LINE; CELL LINE, TUMOR; CYTOPLASM; HOMEODOMAIN PROTEINS; HUMANS; KARYOPHERINS; MENTAL RETARDATION, X-LINKED; MOLECULAR SEQUENCE DATA; MUTATION; PC12 CELLS; PEPTIDES; RATS; TRANSCRIPTION FACTORS; TRANSFECTION;

MAMMALIA;

EID: 34250174769     PISSN: 08887543     EISSN: 10898646     Source Type: Journal    
DOI: 10.1016/j.ygeno.2007.03.005     Document Type: Article

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