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Article

Evaluation of loss of function as an explanation for SPG4-based hereditary spastic paraplegia.

Human molecular genetics - 15 Jul 2010

Solowska Joanna M, Garbern James Y, Baas Peter W

Abstract excerpt

The spectrum of mutations (missense, non-sense and splice-site) associated with hereditary spastic paraplegia 4 (HSP-SPG4) (SPG4:OMIM#182601) has suggested that this autosomal dominant disease results from loss of function. Because the protein encoded by SPG4, termed spastin, is a microtubule-sev...

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Identifiers

PMID: 20430936
DOI: 10.1093/hmg/ddq177
PMCID: PMC2893808

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20430936-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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