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Article

Functional mutation analysis provides evidence for a role of REEP1 in lipid droplet biology.

Human mutation - 1 Apr 2014

Falk Julia, Rohde Magdalena, Bekhite Mohamed M, Neugebauer Sophie, Hemmerich Peter, Kiehntopf Michael, Deufel Thomas, Hübner Christian A, Beetz Christian

Abstract excerpt

Hereditary axonopathies are frequently caused by mutations in proteins that reside in the endoplasmic reticulum (ER). Which of the many ER functions are pathologically relevant, however, remains to be determined. REEP1 is an ER protein mutated in hereditary spastic paraplegia (HSP) and hereditary motor neuropathy (HMN). We found that HSP-associated missense variants at the N-terminus of REEP1 abolish ER...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24478229
DOI: 10.1002/humu.22521

Genes

REEP1

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.

Related research

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Functional mutation analysis provides evidence for a role of REEP1 in lipid droplet biology.PMID 24478229Read ↗

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

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

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

The membrane curvature-inducing REEP1-4 proteins generate an ER-derived vesicular compartment.Semantic proximity Read ↗

Hereditary spastic paraplegia-linked REEP1 modulates endoplasmic reticulum/mitochondria contacts.Semantic proximity Read ↗

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

A nonstop variant in REEP1 causes peripheral neuropathy by unmasking a 3'UTR-encoded, aggregation-inducing motif.Semantic proximity Read ↗

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

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

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

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

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