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Article

Pathogenic mutation of spastin has gain-of-function effects on microtubule dynamics.

The Journal of neuroscience : the official journal of the Society for Neuroscience - 29 Jan 2014

Solowska Joanna M, D'Rozario Mitchell, Jean Daphney C, Davidson Michael W, Marenda Daniel R, Baas Peter W

Abstract excerpt

Mutations to the SPG4 gene encoding the microtubule-severing protein spastin are the most common cause of hereditary spastic paraplegia. Haploinsufficiency, the prevalent model for the disease, cannot readily explain many of its key aspects, such as its adult onset or its specificity for the corticospinal tracts. Treatment strategies based solely on haploinsufficiency are therefore likely to fail. Toward...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24478365
DOI: 10.1523/JNEUROSCI.3309-13.2014
PMCID: PMC3905148

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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