Associated Papers
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
Molecular Insights into Mitochondrial Protein Translocation and Human Disease.
Ruiz-Pesini E et al.
Genes, 2021
AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination.
Edgerley K et al.
American Journal of Medical Genetics. Part A, 2021
High Frequency of AIFM1 Variants and Phenotype Progression of Auditory Neuropathy in a Chinese Population.
Wang H et al.
Neural Plasticity, 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
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
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.
Miyake N et al.
Neurogenetics, 2017
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
Structure/Function Relations in AIFM1 Variants Associated with Neurodegenerative Disorders.
Sevrioukova IF
Journal of Molecular Biology, 2016
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 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
From ventriculomegaly to severe muscular atrophy: expansion of the clinical spectrum related to mutations in AIFM1.
Kettwig M et al.
Mitochondrion, 2015
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