期刊
NATURE GENETICS
卷 29, 期 2, 页码 160-165出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng1001-160
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资金
- NINDS NIH HHS [R01 NS40308, P01 NS21442, R01 NS37912] Funding Source: Medline
Amyotrophic lateral sclerosis (ALS) and primary lateral sclerosis (PLS) are neurodegenerative conditions that affect large motor neurons of the central nervous system. We have identified a familial juvenile PLS (JPLS) locus overlapping the previously identified ALS2 locus on chromosome 2q33. We report two deletion mutations in a new gene that are found both in individuals with ALS2 and those with JPLS, indicating that these conditions have a common genetic origin. The predicted sequence of the protein (alsin) may indicate a mechanism for motor-neuron degeneration, as it may include several cell-signaling motifs with known functions, including three associated with guanine-nucleotide exchange factors for GTPases (GEFs).
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