Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
Reply to: Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.
Saffari A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2023
Molecular and cellular mechanisms of spastin in neural development and disease (Review).
Liu Q et al.
International Journal of Molecular Medicine, 2021
Spastin depletion increases tubulin polyglutamylation and impairs kinesin-mediated neuronal transport, leading to working and associative memory deficits.
Lopes AT et al.
Plos Biology, 2020
ESCRT-III-associated proteins and spastin inhibit protrudin-dependent polarised membrane traffic.
Connell JW et al.
Cellular and Molecular Life Sciences : Cmls, 2020
Spastin tethers lipid droplets to peroxisomes and directs fatty acid trafficking through ESCRT-III.
Chang CL et al.
The Journal of Cell Biology, 2019
An allosteric network in spastin couples multiple activities required for microtubule severing.
Sandate CR et al.
Nature Structural & Molecular Biology, 2019
Spastin MIT Domain Disease-Associated Mutations Disrupt Lysosomal Function.
Allison R et al.
Frontiers in Neuroscience, 2019
Missense mutation of SPAST protein (I344K) results in loss of ATPase activity and prolonged the half-life, implicated in autosomal dominant hereditary spastic paraplegia.
Lim JH et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2018
Functional differences of short and long isoforms of spastin harboring missense mutation.
Plaud C et al.
Disease Models & Mechanisms, 2018
Modeling Axonal Defects in Hereditary Spastic Paraplegia with Human Pluripotent Stem Cells.
Denton KR et al.
Frontiers in Biology, 2016
Rare disease models provide insight into inherited forms of neurodegeneration.
Fowler PC et al.
Journal of Rare Diseases Research & Treatment, 2016
Cold temperature improves mobility and survival in Drosophila models of autosomal-dominant hereditary spastic paraplegia (AD-HSP).
Baxter SL et al.
Disease Models & Mechanisms, 2014
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
An ESCRT-spastin interaction promotes fission of recycling tubules from the endosome.
Allison R et al.
The Journal of Cell Biology, 2013
Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure.
Beetz C et al.
Proceedings of the National Academy of Sciences of the United States of America, 2013
The AAA ATPase spastin links microtubule severing to membrane modelling.
Lumb JH et al.
Biochimica Et Biophysica Acta, 2012
Distinct intracellular vesicle transport mechanisms are selectively modified by spastin and spastin mutations.
Fuerst JC et al.
Journal of Cellular Physiology, 2011
Functional conservation of human Spastin in a Drosophila model of autosomal dominant-hereditary spastic paraplegia.
Du F et al.
Human Molecular Genetics, 2010
Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network.
Park SH et al.
The Journal of Clinical Investigation, 2010
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
Pleiotropic effects of spastin on neurite growth depending on expression levels.
Riano E et al.
Journal of Neurochemistry, 2009
Spastin oligomerizes into a hexamer and the mutant spastin (E442Q) redistribute the wild-type spastin into filamentous microtubule.
Pantakani DV et al.
Journal of Neurochemistry, 2008
Isoform-specific increase of spastin stability by N-terminal missense variants including intragenic modifiers of SPG4 hereditary spastic paraplegia.
Schickel J et al.
European Journal of Neurology, 2007
Unexpected pathogenic mechanism of a novel mutation in the coding sequence of SPG4 (spastin).
Schickel J et al.
Neurology, 2006
Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners.
Sanderson CM et al.
Human Molecular Genetics, 2006
Disease-related phenotypes in a Drosophila model of hereditary spastic paraplegia are ameliorated by treatment with vinblastine.
Orso G et al.
The Journal of Clinical Investigation, 2005
Subcellular localization of spastin: implications for the pathogenesis of hereditary spastic paraplegia.
Svenson IK et al.
Neurogenetics, 2005
Linking axonal degeneration to microtubule remodeling by Spastin-mediated microtubule severing.
Evans KJ et al.
The Journal of Cell Biology, 2005
Spastin interacts with the centrosomal protein NA14, and is enriched in the spindle pole, the midbody and the distal axon.
Errico A et al.
Human Molecular Genetics, 2004
Hereditary spastic paraparesis: disrupted intracellular transport associated with spastin mutation.
McDermott CJ et al.
Annals of Neurology, 2003
Spastin gene mutation in Japanese with hereditary spastic paraplegia.
Yabe I et al.
Journal of Medical Genetics, 2002
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