Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG3
Dissecting the mechanism of atlastin-mediated homotypic membrane fusion at the single-molecule level.
Shi L et al.
Nature Communications, 2024
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S14.xls › human_pat_mouse_unk_orthovar_14
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar
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
Clinical features and genotype-phenotype correlation analysis in patients with ATL1 mutations: A literature reanalysis.
Zhao GH et al.
Translational Neurodegeneration, 2017
ER network formation and membrane fusion by atlastin1/SPG3A disease variants.
Ulengin I et al.
Molecular Biology of the Cell, 2015
A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.
Dufke C et al.
Neurogenetics, 2012
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
Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis.
Namekawa M et al.
Molecular and Cellular Neurosciences, 2007
Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A.
Abel A et al.
Neurogenetics, 2004
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