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
Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylation.
Lavie J et al.
Human Molecular Genetics, 2017
A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings.
Polymeris AA et al.
Journal of Neurology, 2016
Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing.
Lynch DS et al.
European Journal of Human Genetics : Ejhg, 2016
Functional mutation analysis provides evidence for a role of REEP1 in lipid droplet biology.
Falk J et al.
Human Mutation, 2014
REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.
Goizet C et al.
Human Mutation, 2011
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