Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.E464D
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SPAST

NM_014946.4:p.E464D

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

Genetic etiology of progressive pediatric neurological disorders.

Aaltio J et al.

Pediatric Research, 2024

Reduced acetylated α-tubulin in SPAST hereditary spastic paraplegia patient PBMCs.

Wali G et al.

Frontiers in Neuroscience, 2023

Mitochondrial Function in Hereditary Spastic Paraplegia: Deficits in SPG7 but Not SPAST Patient-Derived Stem Cells.

Wali G et al.

Frontiers in Neuroscience, 2020

Mechanism of impaired microtubule-dependent peroxisome trafficking and oxidative stress in SPAST-mutated cells from patients with Hereditary Spastic Paraplegia.

Wali G et al.

Scientific Reports, 2016

A patient-derived stem cell model of hereditary spastic paraplegia with SPAST mutations.

Abrahamsen G et al.

Disease Models & Mechanisms, 2013

SPAST mutations in Australian patients with hereditary spastic paraplegia.

Vandebona H et al.

Internal Medicine Journal, 2012

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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."