Taking a risk: a therapeutic focus on ataxin-2 in amyotrophic lateral sclerosis?
作者： Dianne M.A. van den Heuvel , Oliver Harschnitz , Leonard H. van den Berg , R. Jeroen Pasterkamp
DOI: 10.1016/J.MOLMED.2013.09.001
关键词:
摘要: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease caused by the loss of lower and upper motor neurons leading to progressive muscle weakness respiratory insufficiency. No treatment currently available cure ALS. Recent progress has led identification several novel genetic determinants this disease, including repeat expansions in ataxin-2 (ATXN2) gene. Ataxin-2 mislocalized ALS patients represents relatively common susceptibility gene ALS, making it promising therapeutic target. In review, we summarize pathological data implicating discuss potential mechanisms linked altered localization or function, propose strategies for intervention based on ataxin-2.
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