ALS-associated mutation FUS-R521C causes DNA damage and RNA splicing defects

Journal of Clinical Investigation

Volumn 124, Issue 3, 2014, Pages 981-999

  Qiu, Haiyan ^a,b   Lee, Sebum ^a,b   Shang, Yulei ^a,b   Wang, Wen Yuan ^c   Au, Kin Fai ^d   Kamiya, Sherry ^a,b   Barmada, Sami J ^e   Finkbeiner, Steven ^e   Lui, Hansen ^a,b   Carlton, Caitlin E ^a,b   Tang, Amy A ^a,b   Oldham, Michael C ^f   Wang, Hejia ^g   Shorter, James ^g   Filiano, Anthony J ^h   Roberson, Erik D ^h   Tourtellotte, Warren G ⁱ   Chen, Bin ^j   Tsai, Li Huei ^c   Huang, Eric J ^a,b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b VETERANS AFFAIRS MEDICAL CENTER   (United States)

^c MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

^d STANFORD UNIVERSITY   (United States)

^e GLADSTONE INSTITUTE OF NEUROLOGICAL DISEASE   (United States)

^f UNIVERSITY OF CALIFORNIA   (United States)

^g UNIVERSITY OF PENNSYLVANIA   (United States)

^h The University of Alabama at Birmingham   (United States)

ⁱ NORTHWESTERN UNIVERSITY   (United States)

^j UNIVERSITY OF CALIFORNIA   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

BRAIN DERIVED NEUROTROPHIC FACTOR; BRAIN DERIVED NEUROTROPHIC FACTOR RECEPTOR; CASPASE 3; FUSED IN SARCOMA PROTEIN; HISTONE DEACETYLASE 1; HISTONE H2AX; MESSENGER RNA;

AMYOTROPHIC LATERAL SCLEROSIS; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BRAIN CELL; CONTROLLED STUDY; DNA DAMAGE; EXCISION REPAIR; FAMILIAL DISEASE; FEMALE; GEL MOBILITY SHIFT ASSAY; GENE MUTATION; GENE TARGETING; GENETIC SCREENING; MALE; MOTONEURON; MOTOR COORDINATION; MOUSE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PROTEIN PROTEIN INTERACTION; RNA PROCESSING; RNA SPLICING; RNA STABILITY; SIGNAL TRANSDUCTION; SPLICING DEFECT;

AMYOTROPHIC LATERAL SCLEROSIS; ANIMALS; BRAIN-DERIVED NEUROTROPHIC FACTOR; CELLS, CULTURED; CRICETINAE; DNA DAMAGE; FEMALE; HISTONE DEACETYLASE 1; HUMANS; MALE; MICE; MICE, INBRED C57BL; MICE, TRANSGENIC; MOTOR CORTEX; MOTOR NEURONS; MUTATION, MISSENSE; PROTEIN BINDING; PROTEIN TRANSPORT; RECEPTOR, TRKB; RNA SPLICING; RNA, MESSENGER; RNA-BINDING PROTEIN FUS; SIGNAL TRANSDUCTION; SPINAL CORD; SYNAPSES; TRANSCRIPTOME;

EID: 84896799718     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI72723     Document Type: Article

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