Associated Papers
Connecting tubules: mechanisms of endoplasmic reticulum membrane fusion.
Jang E et al.
Biochemical Society Transactions, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Reconstitution of human atlastin fusion activity reveals autoinhibition by the C terminus.
Crosby D et al.
The Journal of Cell Biology, 2022
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Clinical and genetic aspects of hereditary spastic paraplegia in patients from Turkey.
Akçakaya NH et al.
Neurologia I Neurochirurgia Polska, 2020
Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia.
Kadnikova VA et al.
Scientific Reports, 2019
Novel ATL1 mutation in a Chinese family with hereditary spastic paraplegia: A case report and review of literature.
Xiao XW et al.
World Journal of Clinical Cases, 2019
A hereditary spastic paraplegia-associated atlastin variant exhibits defective allosteric coupling in the catalytic core.
O'Donnell JP et al.
The Journal of Biological Chemistry, 2018
ER network formation and membrane fusion by atlastin1/SPG3A disease variants.
Ulengin I et al.
Molecular Biology of the Cell, 2015
Mutation and clinical characteristics of autosomal-dominant hereditary spastic paraplegias in China.
Luo Y et al.
Neuro-degenerative Diseases, 2014
Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.
Guelly C et al.
American Journal of Human Genetics, 2011
Four novel SPG3A/atlastin mutations identified in autosomal dominant hereditary spastic paraplegia kindreds with intra-familial variability in age of onset and complex phenotype.
Smith BN et al.
Clinical Genetics, 2009
SPG3A protein atlastin-1 is enriched in growth cones and promotes axon elongation during neuronal development.
Zhu PP et al.
Human Molecular Genetics, 2006
The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy.
Scarano V et al.
Journal of Neurology, 2005
Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A.
Abel A et al.
Neurogenetics, 2004
Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus.
Sauter SM et al.
Human Mutation, 2004
Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia.
Zhao X et al.
Nature Genetics, 2001