Ontology highlight
ABSTRACT:
SUBMITTER: Gallego-Iradi C
PROVIDER: S-EPMC4181561 | biostudies-literature | 2014 Nov
REPOSITORIES: biostudies-literature
Gallego-Iradi Carolina C Bickford Justin S JS Khare Swati S Hall Alexis A Nick Jerelyn A JA Salmasinia Donya D Wawrowsky Kolja K Bannykh Serguei S Huynh Duong P DP Rincon-Limas Diego E DE Pulst Stefan M SM Nick Harry S HS Fernandez-Funez Pedro P Waters Michael F MF
Neurobiology of disease 20140822
Spinocerebellar ataxia 13 (SCA13) is an autosomal dominant disease resulting from mutations in KCNC3 (Kv3.3), a voltage-gated potassium channel. The KCNC3(R420H) mutation was first identified as causative for SCA13 in a four-generation Filipino kindred with over 20 affected individuals. Electrophysiological analyses in oocytes previously showed that this mutation did not lead to a functional channel and displayed a dominant negative phenotype. In an effort to identify the molecular basis of this ...[more]