Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.E442Q
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SPAST

NM_014946.4:p.E442Q

Associated Papers

The microtubule-binding domain of spastin participates in microtubule severing through electrostatic interactions.

Yu P et al.

Febs Letters, 2025

Microtubule-dependent and independent roles of spastin in lipid droplet dispersion and biogenesis.

Tadepalle N et al.

Life Science Alliance, 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

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

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

Modeling Axonal Defects in Hereditary Spastic Paraplegia with Human Pluripotent Stem Cells.

Denton KR et al.

Frontiers in Biology, 2016

The nucleotide cycle of spastin correlates with its microtubule-binding properties.

Wen M et al.

The Febs Journal, 2013

Crystal structure of the human spastin AAA domain.

Taylor JL et al.

Journal of Structural Biology, 2012

Subunit Interactions and cooperativity in the microtubule-severing AAA ATPase spastin.

Eckert T et al.

The Journal of Biological Chemistry, 2012

The AAA ATPase spastin links microtubule severing to membrane modelling.

Lumb JH et al.

Biochimica Et Biophysica Acta, 2012

Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia.

Shoukier M et al.

European Journal of Human Genetics : Ejhg, 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

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

Interaction of two hereditary spastic paraplegia gene products, spastin and atlastin, suggests a common pathway for axonal maintenance.

Evans K et al.

Proceedings of the National Academy of Sciences of the United States of America, 2006

Linking axonal degeneration to microtubule remodeling by Spastin-mediated microtubule severing.

Evans KJ et al.

The Journal of Cell Biology, 2005

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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."