Varaico: Literature-Extracted Genetic Variants

Gene:REEP1
Variant:p.T55K
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REEP1

NM_001371279.1:p.T55K

Associated Papers

REEP1 Accumulation Disrupts ER Integrity and Drives Spinal Motoneuron Degeneration in Distal Hereditary Motor Neuropathy.

Bock A et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2026

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG31

Yop1 stability and membrane curvature generation propensity are controlled by its oligomerisation interface.

Chandran AV et al.

The Biochemical Journal, 2024

The membrane curvature-inducing REEP1-4 proteins generate an ER-derived vesicular compartment.

Shibata Y et al.

Nature Communications, 2024

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

Guglielmi A

Reviews in the Neurosciences, 2020

Screening for REEP1 Mutations in 31 Chinese Hereditary Spastic Paraplegia Families.

Ma X et al.

Frontiers in Neurology, 2020

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

Falk J et al.

Human Mutation, 2014

Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31).

Schlang KJ et al.

Bmc Medical Genetics, 2008

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."