A novel truncated variant in SPAST results in spastin accumulation and defects in microtubule dynami...
A novel truncated variant in SPAST results in spastin accumulation and defects in microtubule dynamics
About this item
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Author / Creator
Wang, Jie , Wu, Yihan , Dong, Hong , Ji, Yunpeng , Zhang, Lichun , Liu, Yaxian , Liu, Yueshi , Gao, Xin , Jia, Yueqi and Wang, Xiaohua
Publisher
England: BioMed Central Ltd
Journal title
Language
English
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Publication information
Publisher
England: BioMed Central Ltd
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Scope and Contents
Contents
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 pathologi...
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Full title
A novel truncated variant in SPAST results in spastin accumulation and defects in microtubule dynamics
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TN_cdi_doaj_primary_oai_doaj_org_article_9e1740a5dff44831af5edc7ef8df83e4
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_9e1740a5dff44831af5edc7ef8df83e4
Other Identifiers
ISSN
1755-8794
E-ISSN
1755-8794
DOI
10.1186/s12920-023-01759-6
