Associated Papers
The microtubule-binding domain of spastin participates in microtubule severing through electrostatic interactions.
Yu P et al.
Febs Letters, 2025
Large-Scale Whole-Genome Analysis of HTLV-1-Associated Myelopathy Identified Hereditary Spastic Paraplegias.
Takao N et al.
Neurology. Genetics, 2024
A novel missense mutation in SPAST causes hereditary spastic paraplegia in male members of a family: A case report.
Wang XC et al.
Molecular Medicine Reports, 2023
An allosteric network in spastin couples multiple activities required for microtubule severing.
Sandate CR et al.
Nature Structural & Molecular Biology, 2019
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
Phenotype-driven gene prioritization for rare diseases using graph convolution on heterogeneous networks.
Rao A et al.
Bmc Medical Genomics, 2018
Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia.
Chelban V et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2017
Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses.
Ishiura H et al.
Journal of Human Genetics, 2016
Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study.
Martinuzzi A et al.
Plos One, 2016
Hereditary spastic paraplegia SPG4: what is known and not known about the disease.
Solowska JM et al.
Brain : a Journal of Neurology, 2015
Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses.
Ishiura H et al.
Journal of Human Genetics, 2014
A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.
Dufke C et al.
Neurogenetics, 2012
Congenital bovine spinal dysmyelination is caused by a missense mutation in the SPAST gene.
Thomsen B et al.
Neurogenetics, 2010
Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia.
Svenstrup K et al.
Journal of the Neurological Sciences, 2009
Spastic paraplegia in Romania: high prevalence of SPG4 mutations.
Orlacchio A et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2008
Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia.
Meijer IA et al.
Archives of Neurology, 2002