Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

Nature

Volumn 477, Issue 7363, 2011, Pages 211-215

  Deng, Han Xiang ^a   Chen, Wenjie ^a   Hong, Seong Tshool ^a,g   Boycott, Kym M ^b   Gorrie, George H ^a,h   Siddique, Nailah ^a   Yang, Yi ^a   Fecto, Faisal ^a   Shi, Yong ^a   Zhai, Hong ^a   Jiang, Hujun ^a,i   Hirano, Makito ^a,j   Rampersaud, Evadnie ^c   Jansen, Gerard H ^d   Donkervoort, Sandra ^a   Bigio, Eileen H ^a   Brooks, Benjamin R ^e   Ajroud, Kaouther ^a   Sufit, Robert L ^a   Haines, Jonathan L ^f   Mugnaini, Enrico ^a   Pericak Vance, Margaret A ^c   Siddique, Teepu ^a   more..

^a NORTHWESTERN UNIVERSITY   (United States)

^b CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

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

^d UNIVERSITY OF OTTAWA   (Canada)

^e CAROLINAS MEDICAL CENTER   (United States)

^f VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^g Chonbuk National University Medical School   (South Korea)

^h SOUTHERN GENERAL HOSPITAL   (United Kingdom)

ⁱ NATIONAL NATURAL SCIENCE FOUNDATION OF CHINA   (China)

^j KINKI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

more..

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; UBIQUILIN 2; UNCLASSIFIED DRUG;

DOMINANCE; ENZYME ACTIVITY; ETIOLOGY; FUNCTIONAL MORPHOLOGY; GENE EXPRESSION; GENETIC ANALYSIS; JUVENILE; MUTATION; PATHOGENICITY; PROTEIN;

ADOLESCENT; ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; BRAIN REGION; DEMENTIA; FAMILIAL DISEASE; FEMALE; GENE; GENE MUTATION; HIPPOCAMPUS; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MOTONEURON; NERVE DEGENERATION; ONSET AGE; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN DEGRADATION; SPINAL CORD; UBQLN2 GENE; X CHROMOSOME;

ADULT; AGE OF ONSET; AGING; AMINO ACID SEQUENCE; AMYOTROPHIC LATERAL SCLEROSIS; BASE SEQUENCE; CELL CYCLE PROTEINS; CELL LINE; CHILD; DEMENTIA; DNA-BINDING PROTEINS; FEMALE; GENES, DOMINANT; GENES, X-LINKED; HIPPOCAMPUS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROTEASOME ENDOPEPTIDASE COMPLEX; SPINAL CORD; UBIQUITIN; UBIQUITINS;

EID: 80052580969     PISSN: 00280836     EISSN: 14764687     Source Type: Journal    
DOI: 10.1038/nature10353     Document Type: Article

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