Associated Papers
Biallelic Variants in AFG3L2 Causing Spastic Ataxia Type 5 (SPAX5): Report of Two Pediatric Cases from Bogotá, Colombia.
Cortés-Rojas MC et al.
Movement Disorders Clinical Practice, 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
Sustained OMA1-mediated integrated stress response is beneficial for spastic ataxia type 5.
Franchino CA et al.
Brain : a Journal of Neurology, 2024
AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients.
Colucci F et al.
Cerebellum (london, England), 2023
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Schlüter A et al.
Genome Medicine, 2023
Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders.
Alvarez-Mora MI et al.
Genes, 2023
Spinocerebellar ataxia type 28 in a Chinese pedigree: A case report and literature review.
Liu X et al.
Medicine, 2021
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.
Caporali L et al.
Annals of Neurology, 2020
Expanding the clinical and genetic heterogeneity of SPAX5.
Dosi C et al.
Annals of Clinical and Translational Neurology, 2020
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
Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation.
Tulli S et al.
Journal of Medical Genetics, 2019
Spinocerebellar Ataxia Type 28-Phenotypic and Molecular Characterization of a Family with Heterozygous and Compound-Heterozygous Mutations in AFG3L2.
Tunc S et al.
Cerebellum (london, England), 2019
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
What we have learned from the next-generation sequencing: Contributions to the genetic diagnoses and understanding of pathomechanisms of neurodegenerative diseases.
Liu YT et al.
Journal of Neurogenetics, 2015
A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability.
Charif M et al.
Frontiers in Genetics, 2015
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
Recent advances in the molecular genetics of epilepsy.
Hildebrand MS et al.
Journal of Medical Genetics, 2013
AFG3L2 supports mitochondrial protein synthesis and Purkinje cell survival.
Almajan ER et al.
The Journal of Clinical Investigation, 2012
VAR-MD: a tool to analyze whole exome-genome variants in small human pedigrees with mendelian inheritance.
Sincan M et al.
Human Mutation, 2012
The use of next-generation sequencing in movement disorders.
Krebs CE et al.
Frontiers in Genetics, 2012
Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.
Pierson TM et al.
Plos Genetics, 2011
[A case report of spinocerebellar ataxia].
Song YZ et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2007