Associated Papers
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
Screening for REEP1 Mutations in 31 Chinese Hereditary Spastic Paraplegia Families.
Ma X et al.
Frontiers in Neurology, 2020
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
Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31).
Schlang KJ et al.
Bmc Medical Genetics, 2008
Select a paper to view details