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Article

Mutant spastin proteins promote deficits in axonal transport through an isoform-specific mechanism involving casein kinase 2 activation.

Human molecular genetics - 15 Jun 2017

Leo Lanfranco, Weissmann Carina, Burns Matthew, Kang Minsu, Song Yuyu, Qiang Liang, Brady Scott T, Baas Peter W, Morfini Gerardo

Abstract excerpt

Mutations of various genes cause hereditary spastic paraplegia (HSP), a neurological disease involving dying-back degeneration of upper motor neurons. From these, mutations in the SPAST gene encoding the microtubule-severing protein spastin account for most HSP cases. Cumulative genetic and experimental evidence suggests that alterations in various intracellular trafficking events, including fast axonal transport...

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Identifiers

PMID: 28398512
DOI: 10.1093/hmg/ddx125
PMCID: PMC6075366

Genes

SPAST

Provenance

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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Mutant spastin proteins promote deficits in axonal transport through an isoform-specific mechanism involving casein kinase 2 activation.PMID 28398512Read ↗

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