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Article

Reep1 null mice reveal a converging role for hereditary spastic paraplegia proteins in lipid droplet regulation.

Human molecular genetics - 1 Dec 2016

Renvoisé Benoît, Malone Brianna, Falgairolle Melanie, Munasinghe Jeeva, Stadler Julia, Sibilla Caroline, Park Seong H, Blackstone Craig

Abstract excerpt

Hereditary spastic paraplegias (HSPs; SPG1-76 plus others) are length-dependent disorders affecting long corticospinal axons, and the most common autosomal dominant forms are caused by mutations in genes that encode the spastin (SPG4), atlastin-1 (SPG3A) and REEP1 (SPG31) proteins. These proteins bind one another and shape the tubular endoplasmic reticulum (ER) network throughout cells. They also are involved in...

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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: 27638887
DOI: 10.1093/hmg/ddw315
PMCID: PMC6078631

Genes

REEP1
BSCL2

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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Reep1 null mice reveal a converging role for hereditary spastic paraplegia proteins in lipid droplet regulation.PMID 27638887Read ↗

Functional mutation analysis provides evidence for a role of REEP1 in lipid droplet biology.Semantic proximity Read ↗

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Inhibition of ER stress improves progressive motor deficits in a REEP1-null mouse model of hereditary spastic paraplegia.Semantic proximity Read ↗

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