Associated Papers
Modeling spastic paraplegia 4 with corticospinal motor neuron-enriched cortical organoids reveals genotype-phenotype and HDAC6-targetable pathology.
Mohan N et al.
Cell Reports, 2026
Intracerebroventricular SPAST-AAV9 gene therapy prevents manifestation of symptoms in a mouse model of SPG4 hereditary spastic paraplegia.
Piermarini E et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2025
Tubular ER dysfunction in neurodegenerative diseases.
Sharoar MG et al.
Neurobiology of Disease, 2025
Genotype-Phenotype Distinctions in Spastic Paraplegia 4 Reveal HDAC6 as a Therapeutic Target.
Mohan N et al.
Biorxiv : the Preprint Server for Biology, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
Spastin accumulation and motor neuron defects caused by a novel SPAST splice site mutation.
Luo M et al.
Journal of Translational Medicine, 2024
Spastin regulates ER-mitochondrial contact sites and mitochondrial homeostasis.
Raby A et al.
Iscience, 2024
Pluripotent Stem Cells as a Preclinical Cellular Model for Studying Hereditary Spastic Paraplegias.
Damiani D et al.
International Journal of Molecular Sciences, 2024
A novel missense mutation in SPAST causes hereditary spastic paraplegia in male members of a family: A case report.
Wang XC et al.
Molecular Medicine Reports, 2023
Modeling gain-of-function and loss-of-function components of SPAST-based hereditary spastic paraplegia using transgenic mice.
Piermarini E et al.
Human Molecular Genetics, 2022
Molecular and cellular mechanisms of spastin in neural development and disease (Review).
Liu Q et al.
International Journal of Molecular Medicine, 2021
Novel mutations in the SPAST gene cause hereditary spastic paraplegia.
Zhu Z et al.
Parkinsonism & Related Disorders, 2019
An allosteric network in spastin couples multiple activities required for microtubule severing.
Sandate CR et al.
Nature Structural & Molecular Biology, 2019
Hereditary spastic paraplegia: gain-of-function mechanisms revealed by new transgenic mouse.
Qiang L et al.
Human Molecular Genetics, 2019
New hypothesis for the etiology of SPAST-based hereditary spastic paraplegia.
Qiang L et al.
Cytoskeleton (hoboken, N.j.), 2019
Functional differences of short and long isoforms of spastin harboring missense mutation.
Plaud C et al.
Disease Models & Mechanisms, 2018
Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China.
Dong EL et al.
Molecular Neurodegeneration, 2018
Truncating mutations of SPAST associated with hereditary spastic paraplegia indicate greater accumulation and toxicity of the M1 isoform of spastin.
Solowska JM et al.
Molecular Biology of the Cell, 2017
Mutant spastin proteins promote deficits in axonal transport through an isoform-specific mechanism involving casein kinase 2 activation.
Leo L et al.
Human Molecular Genetics, 2017
Hereditary spastic paraplegia SPG4: what is known and not known about the disease.
Solowska JM et al.
Brain : a Journal of Neurology, 2015
Pathogenic mutation of spastin has gain-of-function effects on microtubule dynamics.
Solowska JM et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2014
Novel human pathological mutations. Gene symbol: SPG4. Disease: spastic paraplegia, autosomal dominant.
Fogli A et al.
Human Genetics, 2009
Novel human pathological mutations. Gene symbol: SPG4. Disease: spastic paraplegia, autosomal dominant.
Fogli A et al.
Human Genetics, 2009
Recognition of C-terminal amino acids in tubulin by pore loops in Spastin is important for microtubule severing.
White SR et al.
The Journal of Cell Biology, 2007
Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleus.
Charvin D et al.
Human Molecular Genetics, 2003
Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics.
Errico A et al.
Human Molecular Genetics, 2002
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.
Fonknechten N et al.
Human Molecular Genetics, 2000
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.
Hazan J et al.
Nature Genetics, 1999