Associated Papers
Diagnostic Yield and Genotype-Phenotype Correlations of Clinical Exome Sequencing in Hereditary Spastic Paraparesis: Experience From Eastern Spain.
Carretero-Vilarroig L et al.
European Journal of Neurology, 2026
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
The membrane curvature-inducing REEP1-4 proteins generate an ER-derived vesicular compartment.
Shibata Y et al.
Nature Communications, 2024
Pluripotent Stem Cells as a Preclinical Cellular Model for Studying Hereditary Spastic Paraplegias.
Damiani D et al.
International Journal of Molecular Sciences, 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
Extensive In Silico Analysis of ATL1 Gene : Discovered Five Mutations That May Cause Hereditary Spastic Paraplegia Type 3A.
Mustafa MI et al.
Scientifica, 2020
In vivo Analysis of CRISPR/Cas9 Induced Atlastin Pathological Mutations in Drosophila.
Montagna A et al.
Frontiers in Neuroscience, 2020
Atlastin-mediated membrane tethering is critical for cargo mobility and exit from the endoplasmic reticulum.
Niu L et al.
Proceedings of the National Academy of Sciences of the United States of America, 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
Atlastin regulates store-operated calcium entry for nerve growth factor-induced neurite outgrowth.
Li J et al.
Scientific Reports, 2017
Clinical features and genotype-phenotype correlation analysis in patients with ATL1 mutations: A literature reanalysis.
Zhao GH et al.
Translational Neurodegeneration, 2017
VCP and ATL1 regulate endoplasmic reticulum and protein synthesis for dendritic spine formation.
Shih YT et al.
Nature Communications, 2016
ER network formation and membrane fusion by atlastin1/SPG3A disease variants.
Ulengin I et al.
Molecular Biology of the Cell, 2015
Atlastin-1 regulates dendritic morphogenesis in mouse cerebral cortex.
Gao Y et al.
Neuroscience Research, 2013
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
A class of dynamin-like GTPases involved in the generation of the tubular ER network.
Hu J et al.
Cell, 2009
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
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Atlastin GTPases are required for Golgi apparatus and ER morphogenesis.
Rismanchi N et al.
Human Molecular Genetics, 2008
Normal dopaminergic nigrostriatal innervation in SPG3A hereditary spastic paraplegia.
Albin RL et al.
Journal of Neurogenetics, 2008
Characterization of a novel SPG3A deletion in a French-Canadian family.
Meijer IA et al.
Annals of Neurology, 2007
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
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
Cellular localization, oligomerization, and membrane association of the hereditary spastic paraplegia 3A (SPG3A) protein atlastin.
Zhu PP et al.
The Journal of Biological Chemistry, 2003