Ontology highlight
ABSTRACT:
SUBMITTER: Fuger P
PROVIDER: S-EPMC3510046 | biostudies-literature | 2012
REPOSITORIES: biostudies-literature
Füger Petra P Sreekumar Vrinda V Schüle Rebecca R Kern Jeannine V JV Stanchev Doychin T DT Schneider Carola D CD Karle Kathrin N KN Daub Katharina J KJ Siegert Vera K VK Flötenmeyer Matthias M Schwarz Heinz H Schöls Ludger L Rasse Tobias M TM
PLoS genetics 20121129 11
Hereditary spastic paraplegias (HSPs) comprise a group of genetically heterogeneous neurodegenerative disorders characterized by spastic weakness of the lower extremities. We have generated a Drosophila model for HSP type 10 (SPG10), caused by mutations in KIF5A. KIF5A encodes the heavy chain of kinesin-1, a neuronal microtubule motor. Our results imply that SPG10 is not caused by haploinsufficiency but by the loss of endogenous kinesin-1 function due to a selective dominant-negative action of m ...[more]