Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis

Science

Volumn 323, Issue 5918, 2009, Pages 1205-1208

  Kwiatkowski Jr , T J ^a   Bosco, D A ^a,b   LeClerc, A L ^a,b   Tamrazian, E ^a   Vanderburg, C R ^a   Russ, C ^a,c   Davis, A ^a   Gilchrist, J ^d   Kasarskis, E J ^e   Munsat, T ^f   Valdmanis, P ^g   Rouleau, G A ^g   Hosler, B A ^a   Cortelli, P ^h   De Jong, P J ⁱ   Yoshinaga, Y ⁱ   Haines, J L ^j   Pericak Vance, M A ^k   Yan, J ^l   Ticozzi, N ^a,b,m   Siddique, T ^l   McKenna Yasek, D ^a   Sapp, P C ^a,c   Horvitz, H R ^c   Landers, J E ^a,b   Brown Jr , R H ^a,b   more..

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

^c MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

^d RHODE ISLAND HOSPITAL   (United States)

^e UNIVERSITY OF KENTUCKY   (United States)

^f TUFTS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g CENTRE HOSPITALIER DE L UNIVERSITÉ DE MONTRÉAL   (Canada)

^h UNIVERSITY OF BOLOGNA   (Italy)

ⁱ CHILDREN S HOSPITAL OAKLAND RESEARCH INSTITUTE   (United States)

^j VANDERBILT UNIVERSITY   (United States)

^k UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^l NORTHWESTERN UNIVERSITY   (United States)

^m UNIVERSITY OF MILAN   (Italy)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME; CYTOPLASM; MUTATION; NERVOUS SYSTEM DISORDER;

AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CHROMOSOME 16; CODON; DISEASE DURATION; DNA METABOLISM; FAMILIAL DISEASE; FUSED IN SARCOMA TRANSLATED IN LIPOSARCOMA GENE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; MISSENSE MUTATION; ONSET AGE; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN BINDING; RNA METABOLISM;

EID: 61349156118     PISSN: 00368075     EISSN: 10959203     Source Type: Journal    
DOI: 10.1126/science.1166066     Document Type: Article

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25. We gratefully acknowledge I. Carr (University of Leeds, UK) for support with AutoSNPa and IBDfinder software, A. Storey for assistance with sequencing, C. LeClerc for genealogical investigations, and D. Crowe for administrative assistance. This work was supported by NIH grants NS050557 (R.H.B. and T.K.) and NS050641 (T.S., R.H.B., J.L. H., and M.P.-V.). R.H.B. also receives support from the Angel Fund, the ALS Therapy Alliance, the ALS Association Project ALS, the Al-Athel ALS Research Foundation, and the Pierre L. de Bourgknecht ALS Research Foundation. T.S. also receives support from The Les Turner ALS Foundation, Vena E. Schaff ALS Research Fund, Harold Post Research Professorship, Herbert and Florence C. Wenske Foundation, Ralph and Marian Falk Medical Research Trust, The David C. Asselin M.D. Memorial Fund, Les Turner ALS Foundation/Herbert C. Wenske Foundation Professorship, Help America Foundation and the ALS Therapy Alliance, Inc. H.R.H. is an investigator of and was supported by the Howard Hughes Medical Institute. R.H.B. is a cofounder of AviTx Inc., which targets development of ALS therapies. R.H.B. and T.J.K. have applied for a patent covering FUS mutations in ALS. We dedicate this report to the memories of Jimmy and Christopher Kennedy, Sharon Timlin, and Ginny Delvecchio.