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Article

A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal system.

PLoS genetics - 1 Jan 2013

Khundadze Mukhran, Kollmann Katrin, Koch Nicole, Biskup Christoph, Nietzsche Sandor, Zimmer Geraldine, Hennings J Christopher, Huebner Antje K, Symmank Judit, Jahic Amir, Ilina Elena I, Karle Kathrin, Schöls Ludger, Kessels Michael, Braulke Thomas, Qualmann Britta, Kurth Ingo, Beetz Christian, Hübner Christian A

Abstract excerpt

Hereditary spastic paraplegias (HSPs) are characterized by progressive weakness and spasticity of the legs because of the degeneration of cortical motoneuron axons. SPG15 is a recessively inherited HSP variant caused by mutations in the ZFYVE26 gene and is additionally characterized by cerebellar ataxia, mental decline, and progressive thinning of the corpus callosum. ZFYVE26 encodes the FYVE domain-containing...

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Brain
Carrier Proteins
Corpus Callosum
Endosomes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Retinal Degeneration

Spastic Paraplegia, Hereditary

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Open in PubMed Open full text

Identifiers

PMID: 24367272
DOI: 10.1371/journal.pgen.1003988
PMCID: PMC3868532

Genes

ZFYVE26
EEA1

Provenance

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

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A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal system.PMID 24367272Read ↗

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