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Article

Two novel truncating variants in UBAP1 are responsible for hereditary spastic paraplegia.

PloS one - 1 Jan 2021

Bian Xinchao, Cheng Guangying, Sun Xinbo, Liu Hongkun, Zhang Xiangmao, Han Yu, Li Bo, Li Ning

Abstract excerpt

Hereditary spastic paraplegias (HSPs) are a group of rare neurodegenerative disorders. HSPs are complex disorders and are clinically and genetically heterogeneous. To date, more than 80 genes or genetic loci have been reported to be responsible for HSPs in a Mendelian-dependent manner. Most recently, ubiquitin-associated protein 1 (UBAP1) has been recognized to be involved in HSP. Here, we identified novel...

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Identifiers

PMID: 34191852
DOI: 10.1371/journal.pone.0253871
PMCID: PMC8244911

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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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