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Article

Spastin accumulation and motor neuron defects caused by a novel SPAST splice site mutation.

Journal of translational medicine - 27 Sept 2024

Luo Min, Wang Yanying, Liang Jinxiu, Wan Xinhua

Abstract excerpt

BACKGROUND: Hereditary spastic paraplegia (HSP) is a rare genetically heterogeneous neurodegenerative disorder. The most common type of HSP is caused by pathogenic variants in the SPAST gene. Various hypotheses regarding the pathogenic mechanisms of HSP-SPAST have been proposed. However, a single hypothesis may not be sufficient to explain HSP-SPAST. OBJECTIVE: To determine the causative gene of autosomal...

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Heterozygote
Introns
Motor Neurons
Pedigree
RNA Splice Sites
Spastic Paraplegia, Hereditary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39334479
DOI: 10.1186/s12967-024-05669-8
PMCID: PMC11429824

Genes

SPAST

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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