期刊
NEUROGENETICS
卷 8, 期 1, 页码 45-49出版社
SPRINGER
DOI: 10.1007/s10048-006-0067-8
关键词
ALS4; AOA2; ataxia; Senataxin; Sen1p; nucleolus
资金
- NINDS NIH HHS [R01-1 NS42810-01] Funding Source: Medline
Senataxin mutations are the molecular basis of two distinct syndromes: (1) ataxia oculomotor apraxia type 2 (AOA2) and (2) juvenile amyotrophic lateral sclerosis 4 (ALS4). The authors describe clinical and molecular genetic studies of mother and daughter who display symptoms of cerebellar ataxia/atrophy, oculomotor defects, and tremor. Both patients share Senataxin mutations N603D and Q653K in cis (N603D-Q653K), adjacent to an N-terminal domain thought to function in protein-protein interaction. The N-terminal and helicase domains appear to harbor missense mutation clusters associated with AOA2 and ALS4. Working synergistically, the N603D-Q653K mutations may confer a partial dominant negative effect, acting on the senataxin N-terminal, further expanding the phenotypic spectrum associated with Senataxin mutations.
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