Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.R424G
Back to variants list

SPAST

NM_014946.4:p.R424G

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

An allosteric network in spastin couples multiple activities required for microtubule severing.

Sandate CR et al.

Nature Structural & Molecular Biology, 2019

31285604 (PubMed )
Supplement: NIHMS1530257-supplement-3.pdf

Tau missorting and spastin-induced microtubule disruption in neurodegeneration: Alzheimer Disease and Hereditary Spastic Paraplegia.

Zempel H et al.

Molecular Neurodegeneration, 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

Direct evidence for axonal transport defects in a novel mouse model of mutant spastin-induced hereditary spastic paraplegia (HSP) and human HSP patients.

Kasher PR 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

Clinical features of hereditary spastic paraplegia due to spastin mutation.

McDermott CJ et al.

Neurology, 2006

Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases.

Depienne C et al.

Journal of Medical Genetics, 2006

Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations.

Patrono C et al.

Human Mutation, 2005

Hereditary spastic paraparesis: disrupted intracellular transport associated with spastin mutation.

McDermott CJ et al.

Annals of Neurology, 2003

The cellular and molecular pathology of the motor system in hereditary spastic paraparesis due to mutation of the spastin gene.

Wharton SB et al.

Journal of Neuropathology and Experimental Neurology, 2003

Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis.

Lindsey JC et al.

Journal of Medical Genetics, 2000

Clinical and pathologic findings in hereditary spastic paraparesis with spastin mutation.

White KD et al.

Neurology, 2000

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."