Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6

Science

Volumn 323, Issue 5918, 2009, Pages 1208-1211

  Vance, Caroline ^a   Rogelj, Boris ^a   Hortobágyi, Tibor ^a   De Vos, Kurt J ^a   Nishimura, Agnes Lumi ^a   Sreedharan, Jemeen ^a   Hu, Xun ^a   Smith, Bradley ^a   Ruddy, Deborah ^a   Wright, Paul ^a   Ganesalingam, Jeban ^a   Williams, Kelly L ^b   Tripathi, Vineeta ^a   Al Saraj, Safa ^a   Al Chalabi, Ammar ^a   Leigh, P Nigel ^a   Blair, Ian P ^b,d   Nicholson, Garth ^b,c,d   De Belleroche, Jackie ^e   Gallo, Jean Marc ^a   Miller, Christopher C ^a   Shaw, Christopher E ^a   more..

^a KING'S COLLEGE LONDON   (United Kingdom)

^b ANZAC RESEARCH INSTITUTE   (Australia)

^c Department of Microbiology and Infectious Diseases   (Australia)

^d University of Sydney   (Australia)

^e HAMMERSMITH HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

FUSED IN SARCOMA PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

CYTOPLASM; MUTATION; NERVOUS SYSTEM DISORDER; RNA;

AMYOTROPHIC LATERAL SCLEROSIS; ANIMAL TISSUE; ARTICLE; AUTOPSY; CELLULAR DISTRIBUTION; CONTROLLED STUDY; CYTOPLASM; HUMAN; HUMAN TISSUE; MISSENSE MUTATION; MOTONEURON; NERVE CELL DEGENERATION; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN LOCALIZATION; RAT; RNA SPLICING; TRANSCRIPTION REGULATION;

AGE OF ONSET; AMINO ACID SEQUENCE; AMYOTROPHIC LATERAL SCLEROSIS; ANIMALS; BRAIN; CELL LINE; CELL NUCLEUS; CYTOPLASM; DNA-BINDING PROTEINS; FEMALE; HUMANS; INCLUSION BODIES; MALE; MOLECULAR SEQUENCE DATA; MOTOR NEURONS; MUTATION, MISSENSE; PEDIGREE; RATS; RNA-BINDING PROTEIN FUS; SPINAL CORD; TRANSFECTION;

EID: 61349162349     PISSN: 00368075     EISSN: 10959203     Source Type: Journal    
DOI: 10.1126/science.1165942     Document Type: Article

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28. This publication is dedicated to the patients and families who have contributed to this project and to B. Coote and C. Cecere for blood sample collection. Postmortem tissues were provided by MRC Neurodegenerative Diseases Brain Bank. This work was supported in the United Kingdom by grants from the American ALS Association, the Middlemass family, Lady Edith Wolfson Trust, Motor Neurone Disease Association UK, The Wellcome Trust, European Union (APOPIS consortium, contract LSHM-CT-2003-503330, and NeuroNE Consortium), National Institute for Health Research Biomedical Research Centre for Mental Health, The South London and Maudsley National Health Service Foundation Trust, Medical Research Council UK, a Jack Cigman grant from King's College Hospital Charity, The Heaton-Ellis Trust, and The Psychiatry Research Trust of the Institute of Psychiatry. In Australia the work was supported by the Australian National Health and Medical Research Council (CDA 511941) and a Peter Stearne grant from the Motor Neuron Disease Research Institute of Australia.