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TY - JOUR AU - Deng, Han-Xiang AU - Chen, Wenjie AU - Hong, Seong-Tshool AU - Boycott, Kym M. AU - Gorrie, George H. AU - Siddique, Nailah AU - Yang, Yi AU - Fecto, Faisal AU - Shi, Yong AU - Zhai, Hong AU - Jiang, Hujun AU - Hirano, Makito AU - Rampersaud, Evadnie AU - Jansen, Gerard H. AU - Donkervoort, Sandra AU - Bigio, Eileen H. AU - Brooks, Benjamin R. AU - Ajroud, Kaouther AU - Sufit, Robert L. AU - Haines, Jonathan L. AU - Mugnaini, Enrico AU - Pericak-Vance, Margaret A. AU - Siddique, Teepu PY - 2011 DA - 2011/09/01 TI - Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia JO - Nature SP - 211 EP - 215 VL - 477 IS - 7363 AB - A study of a five-generation family with the usually fatal disorder amyotrophic lateral sclerosis (ALS) has identified mutations in the UBQLN2 gene, which encodes the ubiquitin-like protein ubiquilin 2, as a cause of ALS and ALS/dementia. This finding is of particular interest as it links familial and sporadic forms of the disease through a ubiquilin 2 pathology observed in the spinal cords of ALS cases and in the brains of ALS/dementia cases with or without UBQLN2 mutations. This novel pathology shows that abnormalities in ubiquilin 2 are associated with defects in the protein degradation pathway, abnormal protein aggregation and neurodegeneration, indicating a common pathogenic mechanism that might be a target for therapeutic intervention. SN - 1476-4687 UR - https://doi.org/10.1038/nature10353 DO - 10.1038/nature10353 ID - Deng2011 ER -