Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31.

American journal of human genetics - 1 Aug 2006

Züchner Stephan, Wang Gaofeng, Tran-Viet Khanh-Nhat, Nance Martha A, Gaskell Perry C, Vance Jeffery M, Ashley-Koch Allison E, Pericak-Vance Margaret A

Abstract excerpt

Hereditary spastic paraplegia (HSP) comprises a group of clinically and genetically heterogeneous diseases that affect the upper motor neurons and their axonal projections. For the novel SPG31 locus on chromosome 2p12, we identified six different mutations in the receptor expression-enhancing protein 1 gene (REEP1). REEP1 mutations occurred in 6.5% of the patients with HSP in our sample, making it the third-most...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Haplorhini
Share to Membrane Transport Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mitochondrial Proteins

Share to Molecular Sequence Data

Share to Mutation

Share to Neurogenetic and Muscular Disorders Research

Share to Spastic Paraplegia, Hereditary

Source

Open in PubMed Open full text

Identifiers

PMID: 16826527
DOI: 10.1086/505361
PMCID: PMC1559498

Genes

REEP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31.PMID 16826527Read ↗

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

New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP).Semantic proximity Read ↗

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

REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.Semantic proximity Read ↗

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

Spastic paraplegia type 31: A novel REEP1 splice site donor variant and expansion of the phenotype variability.Semantic proximity Read ↗

Converging Role for REEP1/SPG31 in Oxidative Stress.Semantic proximity Read ↗

A clinical and genetic study of SPG31 in Japan.Semantic proximity Read ↗

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

Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients.Semantic proximity Read ↗

A novel REEP1 splicing mutation with broad clinical variability in a family with hereditary spastic paraplegia.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.