Associated Papers
NADH improves AIF dimerization and inhibits apoptosis in iPSCs-derived neurons from patients with auditory neuropathy spectrum disorder.
Qiu Y et al.
Hearing Research, 2024
Whole-exome sequencing detected a novel AIFM1 variant in a Han-Chinese family with Cowchock syndrome.
Wang C et al.
Hereditas, 2023
AIFM1 variants associated with auditory neuropathy spectrum disorder cause apoptosis due to impaired apoptosis-inducing factor dimerization.
Qiu Y et al.
Journal of Zhejiang University. Science. B, 2023
Identification of a novel AIFM1 variant from a Chinese family with auditory neuropathy.
Wang R et al.
Frontiers in Genetics, 2022
Molecular Insights into Mitochondrial Protein Translocation and Human Disease.
Ruiz-Pesini E et al.
Genes, 2021
Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant.
Moss T et al.
Cold Spring Harbor Molecular Case Studies, 2021
Mitochondrial protein import dysfunction: mitochondrial disease, neurodegenerative disease and cancer.
Palmer CS et al.
Febs Letters, 2021
The expanding genetic landscape of hereditary motor neuropathies.
Beijer D et al.
Brain : a Journal of Neurology, 2020
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Novel Mutation in AIFM1 Gene Associated with X-Linked Deafness in a Moroccan Family.
Elrharchi S et al.
Human Heredity, 2020
Redox- and Ligand Binding-Dependent Conformational Ensembles in the Human Apoptosis-Inducing Factor Regulate Its Pro-Life and Cell Death Functions.
Villanueva R et al.
Antioxidants & Redox Signaling, 2019
Mitochondrial diseases caused by dysfunctional mitochondrial protein import.
Jackson TD et al.
Biochemical Society Transactions, 2018
Apoptosis-Inducing Factor (AIF) in Physiology and Disease: The Tale of a Repented Natural Born Killer.
Bano D et al.
Ebiomedicine, 2018
Mutations in AIFM1 cause an X-linked childhood cerebellar ataxia partially responsive to riboflavin.
Heimer G et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018
A novel missense mutation in AIFM1 results in axonal polyneuropathy and misassembly of OXPHOS complexes.
Hu B et al.
European Journal of Neurology, 2017
A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation.
Sancho P et al.
Neurogenetics, 2017
AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant.
Morton SU et al.
Cold Spring Harbor Molecular Case Studies, 2017
The Effect of a Novel c.820C>T (Arg274Trp) Mutation in the Mitofusin 2 Gene on Fibroblast Metabolism and Clinical Manifestation in a Patient.
Beręsewicz M et al.
Plos One, 2017
Neuromuscular Manifestations in Mitochondrial Diseases in Children.
Nascimento A et al.
Seminars in Pediatric Neurology, 2016
Structure/Function Relations in AIFM1 Variants Associated with Neurodegenerative Disorders.
Sevrioukova IF
Journal of Molecular Biology, 2016
A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease.
Diodato D et al.
European Journal of Human Genetics : Ejhg, 2016
Key Role of the Adenylate Moiety and Integrity of the Adenylate-Binding Site for the NAD(+)/H Binding to Mitochondrial Apoptosis-Inducing Factor.
Sorrentino L et al.
Biochemistry, 2015
Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder.
Zong L et al.
Journal of Medical Genetics, 2015
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
From ventriculomegaly to severe muscular atrophy: expansion of the clinical spectrum related to mutations in AIFM1.
Kettwig M et al.
Mitochondrion, 2015
Inherited peripheral neuropathies due to mitochondrial disorders.
Cassereau J et al.
Revue Neurologique, 2014
Cowchock syndrome is associated with a mutation in apoptosis-inducing factor.
Rinaldi C et al.
American Journal of Human Genetics, 2012
Whole exome sequencing identifies a novel variant in an apoptosis-inducing factor gene associated with X-linked recessive hearing loss in a Chinese family.
Wang Q et al.
Genetics and Molecular Biology, 0