Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans

Nature Genetics

Volumn 49, Issue 4, 2017, Pages 527-536

  Lu, Hsiang Chih ^a,b,l   Tan, Qiumin ^a,b   Rousseaux, Maxime W C ^a,b   Wang, Wei ^a,b   Kim, Ji Yoen ^a,b   Richman, Ronald ^a,b   Wan, Ying Wooi ^a,b   Yeh, Szu Ying ^a,b   Patel, Jay M ^a   Liu, Xiuyun ^a,b   Lin, Tao ^a,b   Lee, Yoontae ^a,b,m   Fryer, John D ^a,b,n   Han, Jing ^a,b,o   Chahrour, Maria ^a,p   Finnell, Richard H ^c   Lei, Yunping ^c   Zurita Jimenez, Maria E ^c   Ahimaz, Priyanka ^d   Anyane Yeboa, Kwame ^d   Van Maldergem, Lionel ^e   Lehalle, Daphne ^f,g   Jean Marcais, Nolwenn ^f   Mosca Boidron, Anne Laure ^f,g   Thevenon, Julien ^f,g   Cousin, Margot A ^h   Bro, Della E ^h,q   Lanpher, Brendan C ^h   Klee, Eric W ^h   Alexander, Nora ⁱ   Bainbridge, Matthew N ^a,j   Orr, Harry T ^k   Sillitoe, Roy V ^a,b   Ljungberg, M Cecilia ^a,b   Liu, Zhandong ^a,b   Schaaf, Christian P ^a,b   Zoghbi, Huda Y ^a,b   more..

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b TEXAS CHILDREN S HOSPITAL   (United States)

^c UNIVERSITY OF TEXAS AT AUSTIN   (United States)

^d New York Presbyterian Morgan Stanley Children's Hospital   (United States)

^e UNIVERSITÉ DE FRANCHE COMTÉ   (France)

^f DIJON UNIVERSITY HOSPITAL   (France)

^g UNIVERSITÉ DE BOURGOGNE   (France)

^h MAYO CLINIC   (United States)

ⁱ GENEDX   (United States)

^j Codified Genomics LLC ^*  (United States)

^k UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^l WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^m Pohang University of Science and Technology (POSTECH)   (South Korea)

ⁿ MAYO GRADUATE SCHOOL   (United States)

^o UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

^p UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^q Virginia Piper Cancer Institute   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ATAXIN 1; BRAIN PROTEIN; CIC PROTEIN; MULTIPROTEIN COMPLEX; UNCLASSIFIED DRUG; NERVE PROTEIN; NUCLEAR PROTEIN; REPRESSOR PROTEIN;

ANIMAL BEHAVIOR; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; ATTENTION DEFICIT DISORDER; AUTISM; BEHAVIOR DISORDER; CELL SURVIVAL; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GAIN OF FUNCTION MUTATION; GENE DELETION; HUMAN; HYPOTHALAMUS; INTELLECTUAL IMPAIRMENT; LEARNING DISORDER; LOSS OF FUNCTION MUTATION; MALE; MEDIAL AMYGDALA; MEMORY; MOUSE; NERVE DEGENERATION; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; PYRAMIDAL NERVE CELL; SOCIAL INTERACTION; ANIMAL; CEREBELLUM; DEGENERATIVE DISEASE; GENETICS; HUMAN RELATION; PATHOLOGY;

ANIMALS; ATAXIN-1; AUTISM SPECTRUM DISORDER; CEREBELLUM; FEMALE; HUMANS; INTELLECTUAL DISABILITY; INTERPERSONAL RELATIONS; MALE; MICE; NERVE TISSUE PROTEINS; NEURODEGENERATIVE DISEASES; NUCLEAR PROTEINS; PHENOTYPE; REPRESSOR PROTEINS;

EID: 85015068323     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3808     Document Type: Article

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