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Article

A novel truncated variant in SPAST results in spastin accumulation and defects in microtubule dynamics.

BMC medical genomics - 8 Dec 2023

Wang Jie, Wu Yihan, Dong Hong, Ji Yunpeng, Zhang Lichun, Liu Yaxian, Liu Yueshi, Gao Xin, Jia Yueqi, Wang Xiaohua

Abstract excerpt

OBJECTIVE: Haploinsufficiency is widely accepted as the pathogenic mechanism of hereditary spastic paraplegias type 4 (SPG4). However, there are some cases that cannot be explained by reduced function of the spastin protein encoded by SPAST. The aim of this study was to identify the causative variant of SPG4 in a large Chinese family and explore its pathological mechanism. MATERIALS AND METHODS: A five-generation...

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Identifiers

PMID: 38066582
DOI: 10.1186/s12920-023-01759-6
PMCID: PMC10704811

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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