Associated Papers
[Analysis of a three-generation Chinese pedigree affected with Hereditary spastic paraplegia type 3A due to variant of ATL1 gene].
Gong Z et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2026
LXR agonist rescues synaptic dysfunction and degeneration in SPG3A patient-specific iPSC-derived neurons.
Thakur G et al.
Acta Neuropathologica Communications, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG3
Regulation and function of endoplasmic reticulum autophagy in neurodegenerative diseases.
Zhao XY et al.
Neural Regeneration Research, 2025
Pluripotent Stem Cells as a Preclinical Cellular Model for Studying Hereditary Spastic Paraplegias.
Damiani D et al.
International Journal of Molecular Sciences, 2024
Impaired lipid metabolism in astrocytes underlies degeneration of cortical projection neurons in hereditary spastic paraplegia.
Mou Y et al.
Acta Neuropathologica Communications, 2020
ATL3 Is a Tubular ER-Phagy Receptor for GABARAP-Mediated Selective Autophagy.
Chen Q et al.
Current Biology : Cb, 2019
Sensory neuropathy-causing mutations in ATL3 affect ER-mitochondria contact sites and impair axonal mitochondrial distribution.
Krols M et al.
Human Molecular Genetics, 2019
Pathogenic TFG Mutations Underlying Hereditary Spastic Paraplegia Impair Secretory Protein Trafficking and Axon Fasciculation.
Slosarek EL et al.
Cell Reports, 2018
Atlastin regulates store-operated calcium entry for nerve growth factor-induced neurite outgrowth.
Li J et al.
Scientific Reports, 2017
Modeling Axonal Defects in Hereditary Spastic Paraplegia with Human Pluripotent Stem Cells.
Denton KR et al.
Frontiers in Biology, 2016
Pharmacologic rescue of axon growth defects in a human iPSC model of hereditary spastic paraplegia SPG3A.
Zhu PP et al.
Human Molecular Genetics, 2014
A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.
Dufke C et al.
Neurogenetics, 2012
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