Associated Papers
Diagnostic Yield and Genetic Burden Analysis of Frequently Mutated Genes in Progressive Ataxia.
Sharma P et al.
Annals of Indian Academy of Neurology, 2025
Clinical and genetic landscape of optic atrophy in 826 families: insights from 50 nuclear genes.
Zheng Y et al.
Brain : a Journal of Neurology, 2025
Multifaceted Roles of AFG3L2, a Mitochondrial ATPase in Relation to Neurological Disorders.
Ghosh Dastidar R et al.
Molecular Neurobiology, 2024
Evidence for Non-Mendelian Inheritance in Spastic Paraplegia 7.
Estiar MA et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
Unique Structural Features of the Mitochondrial AAA+ Protease AFG3L2 Reveal the Molecular Basis for Activity in Health and Disease.
Puchades C et al.
Molecular Cell, 2019
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity.
Mancini C et al.
Neurobiology of Disease, 2019
Mitochondrial stress response triggered by defects in protein synthesis quality control.
Richter U et al.
Life Science Alliance, 2019
Neurocognitive Characterization of an SCA28 Family Caused by a Novel AFG3L2 Gene Mutation.
Szpisjak L et al.
Cerebellum (london, England), 2017
Non-syndromic isolated dominant optic atrophy caused by the p.R468C mutation in the AFG3 like matrix AAA peptidase subunit 2 gene.
Colavito D et al.
Biomedical Reports, 2017
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Spinocerebellar ataxia: relationship between phenotype and genotype - a review.
Sun YM et al.
Clinical Genetics, 2016
A novel missense mutation in AFG3L2 associated with late onset and slow progression of spinocerebellar ataxia type 28.
Löbbe AM et al.
Journal of Molecular Neuroscience : Mn, 2014
Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways.
Mancini C et al.
Bmc Medical Genomics, 2013
Respiratory dysfunction by AFG3L2 deficiency causes decreased mitochondrial calcium uptake via organellar network fragmentation.
Maltecca F et al.
Human Molecular Genetics, 2012
Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.
Cagnoli C et al.
Human Mutation, 2010