Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
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
Oligomeric scaffolding for curvature generation by ER tubule-forming proteins.
Xiang Y et al.
Nature Communications, 2023
The expanding genetic landscape of hereditary motor neuropathies.
Beijer D et al.
Brain : a Journal of Neurology, 2020
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
Hereditary spastic paraplegia-linked REEP1 modulates endoplasmic reticulum/mitochondria contacts.
Lim Y et al.
Annals of Neurology, 2015
A conserved amphipathic helix is required for membrane tubule formation by Yop1p.
Brady JP et al.
Proceedings of the National Academy of Sciences of the United States of America, 2015
Functional mutation analysis provides evidence for a role of REEP1 in lipid droplet biology.
Falk J et al.
Human Mutation, 2014
Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.
Kumar KR et al.
Journal of Neurology, 2013
Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.
Beetz C et al.
American Journal of Human Genetics, 2012
REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.
Goizet C et al.
Human Mutation, 2011
Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.
McCorquodale DS et al.
Clinical Genetics, 2011
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.
Beetz C et al.
Brain : a Journal of Neurology, 2008
Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31.
Züchner S et al.
American Journal of Human Genetics, 2006