Article
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia.
Nature - 21 Aug 2011
Deng Han-Xiang, Chen Wenjie, Hong Seong-Tshool, Boycott Kym M, Gorrie George H, Siddique Nailah, Yang Yi, Fecto Faisal, Shi Yong, Zhai Hong, Jiang Hujun, Hirano Makito, Rampersaud Evadnie, Jansen Gerard H, Donkervoort Sandra, Bigio Eileen H, Brooks Benjamin R, Ajroud Kaouther, Sufit Robert L, Haines Jonathan L, Mugnaini Enrico, Pericak-Vance Margaret A, Siddique Teepu
Abstract excerpt
Amyotrophic lateral sclerosis (ALS) is a paralytic and usually fatal disorder caused by motor-neuron degeneration in the brain and spinal cord. Most cases of ALS are sporadic but about 5-10% are familial. Mutations in superoxide dismutase 1 (SOD1), TAR DNA-binding protein (TARDBP, also known as TDP43) and fused in sarcoma (FUS, also known as translocated in liposarcoma (TLS)) account for approximately 30% of...
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