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Article

Hereditary spastic paraplegia-linked REEP1 modulates endoplasmic reticulum/mitochondria contacts.

Annals of neurology - 1 Nov 2015

Lim Youngshin, Cho Il-Taeg, Schoel Leah J, Cho Ginam, Golden Jeffrey A

Abstract excerpt

OBJECTIVE: Mutations in receptor expression enhancing protein 1 (REEP1) are associated with hereditary spastic paraplegias (HSPs). Although axonal degeneration is thought to be a predominant feature in HSP, the role of REEP1 mutations in degeneration is largely unknown. Previous studies have implicated a role for REEP1 in the endoplasmic reticulum (ER), whereas others localized REEP1 with mitochondria. We sought...

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Axons
Cerebral Cortex
Endoplasmic Reticulum
Gene Knockdown Techniques
Nerve Degeneration

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Spastic Paraplegia, Hereditary

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Identifiers

PMID: 26201691
DOI: 10.1002/ana.24488
PMCID: PMC4681538

Genes

REEP1

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

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Hereditary spastic paraplegia-linked REEP1 modulates endoplasmic reticulum/mitochondria contacts.PMID 26201691Read ↗

Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31.Semantic proximity Read ↗

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Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER networkSemantic proximity Read ↗

A complete overview of REEP1: old and new insights on its role in hereditary spastic paraplegia and neurodegeneration.Semantic proximity Read ↗

Transverse endoplasmic reticulum expansion in hereditary spastic paraplegia corticospinal axons.Semantic proximity Read ↗

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

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.Semantic proximity Read ↗

Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia.Semantic proximity Read ↗

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

Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.Semantic proximity Read ↗

The membrane curvature inducing REEP1 proteins generate a novel ER-derived vesicular compartmentSemantic proximity Read ↗

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