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Article

Impaired mitochondrial dynamics underlie axonal defects in hereditary spastic paraplegias.

Human molecular genetics - 15 Jul 2018

Denton Kyle, Mou Yongchao, Xu Chong-Chong, Shah Dhruvi, Chang Jaerak, Blackstone Craig, Li Xue-Jun

Abstract excerpt

Mechanisms by which long corticospinal axons degenerate in hereditary spastic paraplegia (HSP) are largely unknown. Here, we have generated induced pluripotent stem cells (iPSCs) from patients with two autosomal recessive forms of HSP, SPG15 and SPG48, which are caused by mutations in the ZFYVE26 and AP5Z1 genes encoding proteins in the same complex, the spastizin and AP5Z1 proteins, respectively. In patient...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29726929
DOI: 10.1093/hmg/ddy156
PMCID: PMC6031053

Genes

ZFYVE26

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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