Dr. Chern, Yijuang 陳儀莊 博士

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Dysregulated brain creatine kinase is associated with hearing impairment in mouse models of Huntington disease.

J Clin Invest., Mar 14, 2011

Huntington disease (HD) is a dominant neurodegenerative disorder that usually becomes established in middle age. The clinical features include uncontrollable chorea movement, cognitive impairment, and psychiatric syndromes (1). The number of CAG repeats in exon 1 of the huntingtin gene (HTT) of HD patients is known to exceed 35. The expanded CAG repeat is translated into a polyglutamine (polyQ) stretch at the N-terminus of the Htt protein.

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