Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG4
ESCRT-III-associated proteins and spastin inhibit protrudin-dependent polarised membrane traffic.
Connell JW et al.
Cellular and Molecular Life Sciences : Cmls, 2020
An allosteric network in spastin couples multiple activities required for microtubule severing.
Sandate CR et al.
Nature Structural & Molecular Biology, 2019
Defects in ER-endosome contacts impact lysosome function in hereditary spastic paraplegia.
Allison R et al.
The Journal of Cell Biology, 2017
Quantitative Gait Analysis Using a Motorized Treadmill System Sensitively Detects Motor Abnormalities in Mice Expressing ATPase Defective Spastin.
Connell JW et al.
Plos One, 2016
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
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
Linking axonal degeneration to microtubule remodeling by Spastin-mediated microtubule severing.
Evans KJ et al.
The Journal of Cell Biology, 2005
Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics.
Errico A et al.
Human Molecular Genetics, 2002
Phenotype of AD-HSP due to mutations in the SPAST gene: comparison with AD-HSP without mutations.
McMonagle P et al.
Neurology, 2000
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.
Fonknechten N et al.
Human Molecular Genetics, 2000
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