Associated Papers
LONP-1 deficiency causes dysregulated protein synthesis within mitochondria that is restored by mitoribosomal mutations.
Ali L et al.
Biorxiv : the Preprint Server for Biology, 2026
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
39423307 (PubMed )
Supplement: awae324_supplementary_data.zip › brain-2024-01629-File014.pdf
Studying Rare Movement Disorders: From Whole-Exome Sequencing to New Diagnostic and Therapeutic Approaches in a Modern Genetic Clinic.
Marsili L et al.
Biomedicines, 2024
39767580 (PubMed )
Supplement: biomedicines-12-02673-s001.zip › Supplementary_Table_S1.pdf
Multifaceted Roles of AFG3L2, a Mitochondrial ATPase in Relation to Neurological Disorders.
Ghosh Dastidar R et al.
Molecular Neurobiology, 2024
Clinical Features and Genetic Spectrum of Patients With Clinically Suspected Hereditary Progressive Spastic Paraplegia.
Shi Y et al.
Frontiers in Neurology, 2022
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.
Caporali L et al.
Annals of Neurology, 2020
Neurocognitive Characterization of an SCA28 Family Caused by a Novel AFG3L2 Gene Mutation.
Szpisjak L et al.
Cerebellum (london, England), 2017
Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.
Nibbeling EAR et al.
Brain : a Journal of Neurology, 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
28569743 (PubMed )
Supplement: gim201760x7.xlsx › table_all_ExAC_consensus_Oct201
A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability.
Charif M et al.
Frontiers in Genetics, 2015
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
Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.
Cagnoli C et al.
Human Mutation, 2010
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