Ontology highlight
ABSTRACT:
SUBMITTER: Bakalkin G
PROVIDER: S-EPMC2978951 | biostudies-literature | 2010 Nov
REPOSITORIES: biostudies-literature
Bakalkin Georgy G Watanabe Hiroyuki H Jezierska Justyna J Depoorter Cloë C Verschuuren-Bemelmans Corien C Bazov Igor I Artemenko Konstantin A KA Yakovleva Tatjana T Dooijes Dennis D Van de Warrenburg Bart P C BP Zubarev Roman A RA Kremer Berry B Knapp Pamela E PE Hauser Kurt F KF Wijmenga Cisca C Nyberg Fred F Sinke Richard J RJ Verbeek Dineke S DS
American journal of human genetics 20101028 5
Spinocerebellar ataxias (SCAs) are dominantly inherited neurodegenerative disorders characterized by progressive cerebellar ataxia and dysarthria. We have identified missense mutations in prodynorphin (PDYN) that cause SCA23 in four Dutch families displaying progressive gait and limb ataxia. PDYN is the precursor protein for the opioid neuropeptides, α-neoendorphin, and dynorphins A and B (Dyn A and B). Dynorphins regulate pain processing and modulate the rewarding effects of addictive substance ...[more]