Polyalanine expansion mutations in the X-linked hypopituitarism gene SOX3 result in aggresome formation and impaired transactivation

Frontiers in Bioscience

Volumn 12, Issue 6, 2007, Pages 2085-2095

  Wong, Jacqueline ^a   Farlie, Peter ^a   Holbert, Sebastien ^b   Lockhart, Paul ^a   Thomas, Paul Q ^a,c  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b CHU BRETONNEAU   (France)

^c UNIVERSITY OF ADELAIDE   (Australia)

Author keywords

Aggresome; Polyalanine expansion; SOX3; X linked hypopituitarism

Indexed keywords

BETA CATENIN; DNA BINDING PROTEIN; HIGH MOBILITY GROUP PROTEIN; PEPTIDE; POLYALANINE; REPETITIVE DNA; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR SOX3;

ANIMAL; ARTICLE; CELL NUCLEUS; CELL STRAIN COS1; CERCOPITHECUS; CHEMISTRY; CHICK EMBRYO; CYTOPLASM; GENETICS; HUMAN; HYPOPITUITARISM; MALE; METABOLISM; TRANSACTIVATION; X CHROMOSOME LINKED DISORDER;

ANIMALS; BETA CATENIN; CELL NUCLEUS STRUCTURES; CERCOPITHECUS AETHIOPS; CHICK EMBRYO; COS CELLS; CYTOPLASMIC STRUCTURES; DNA REPEAT EXPANSION; DNA-BINDING PROTEINS; GENETIC DISEASES, X-LINKED; HIGH MOBILITY GROUP PROTEINS; HUMANS; HYPOPITUITARISM; MALE; PEPTIDES; TRANS-ACTIVATION (GENETICS); TRANSCRIPTION FACTORS;

EID: 36048940944     PISSN: 27686701     EISSN: 27686698     Source Type: Journal    
DOI: 10.2741/2213     Document Type: Article

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