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Article

Spastic paraplegia mutation N256S in the neuronal microtubule motor KIF5A disrupts axonal transport in a Drosophila HSP model.

PLoS genetics - 1 Jan 2012

Füger Petra, Sreekumar Vrinda, Schüle Rebecca, Kern Jeannine V, Stanchev Doychin T, Schneider Carola D, Karle Kathrin N, Daub Katharina J, Siegert Vera K, Flötenmeyer Matthias, Schwarz Heinz, Schöls Ludger, Rasse Tobias M

Abstract excerpt

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...

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Identifiers

PMID: 23209432
DOI: 10.1371/journal.pgen.1003066
PMCID: PMC3510046

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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