Associated Papers
Elevated Bile Acid 3β,5α,6β-Trihydroxycholanoyl Glycine in a Subset of Adult Ataxias Including Niemann-Pick Type C.
Motamed-Gorji N et al.
Antioxidants (basel, Switzerland), 2024
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
Molecular Insights into Mitochondrial Protein Translocation and Human Disease.
Ruiz-Pesini E et al.
Genes, 2021
Mitochondrial protein import dysfunction: mitochondrial disease, neurodegenerative disease and cancer.
Palmer CS et al.
Febs Letters, 2021
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
High Frequency of AIFM1 Variants and Phenotype Progression of Auditory Neuropathy in a Chinese Population.
Wang H et al.
Neural Plasticity, 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
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
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
New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies.
Legati A et al.
Biochimica Et Biophysica Acta, 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