ArticleMolecular metabolism2018
A disease-associated Aifm1 variant induces severe myopathy in knockin mice.
Article in Molecular metabolism, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 44 citations in OpenAlex.
- Dietary lipid content modifies wah-1/AIFM1-associated phenotypes via LRK-1 and DRP-1 expression in C. elegans.Nature communications · 2025Article
- Interaction with AK2A links AIFM1 to cellular energy metabolism.Molecular cell · 2025Article
- Mitochondrial complex I inhibition enhances astrocyte responsiveness to pro-inflammatory stimuli.Scientific reports · 2024Article
- RHBDF1 modulates cisplatin sensitivity of small cell lung cancer through YAP1/Smad2 signaling pathway.Heliyon · 2024Article
- AIF translocation into nucleus caused by Aifm1 R450Q mutation: generation and characterization of a mouse model for AUNX1.Human molecular genetics · 2024Article
- Peripheral macrophages drive CNS disease in the Ndufs4(-/-) model of Leigh syndrome.Brain pathology (Zurich, Switzerland) · 2023Article
- Pathophysiology of Cerebellar Degeneration in Mitochondrial Disorders: Insights from theInternational journal of molecular sciences · 2023Article
- Unveiling Human Proteome Signatures of Heart Failure with Preserved Ejection Fraction.Biomedicines · 2022Article
- The immune system as a driver of mitochondrial disease pathogenesis: a review of evidence.Orphanet journal of rare diseases · 2022Review
- AIFM1 is a component of the mitochondrial disulfide relay that drives complex I assembly through efficient import of NDUFS5.The EMBO journal · 2022Article
- SGPL1 stimulates VPS39 recruitment to the mitochondria in MICU1 deficient cells.Molecular metabolism · 2022Article
- CEST-2.2 overexpression alters lipid metabolism and extends longevity of mitochondrial mutants.EMBO reports · 2022Article
- Leukocytes mediate disease pathogenesis in the Ndufs4(KO) mouse model of Leigh syndrome.JCI insight · 2022Article
- Apoptosis-Inducing Factor Deficiency Induces Tissue-Specific Alterations in Autophagy: Insights from a Preclinical Model of Mitochondrial Disease and Exercise Training Effects.Antioxidants (Basel, Switzerland) · 2022Article
- Review
- Article
- Comparative analysis of CI- and CIV-containing respiratory supercomplexes at single-cell resolution.Cell reports methods · 2021Article
- AIF3 splicing switch triggers neurodegeneration.Molecular neurodegeneration · 2021Article
- Regulation of diurnal energy balance by mitokines.Cellular and molecular life sciences : CMLS · 2021Review
- Alopecia in Harlequin mutant mice is associated with reduced AIF protein levels and expression of retroviral elements.Mammalian genome : official journal of the International Mammalian Genome Society · 2021Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveMutations in the AIFM1 gene have been identified in recessive X-linked mitochondrial diseases. Functional and molecular consequences of these pathogenic AIFM1 mutations have been poorly studied in vivo. METHODS/
resultsHere we provide evidence that the disease-associated apoptosis-inducing factor (AIF) deletion arginine 201 (R200 in rodents) causes pathology in knockin mice. Within a few months, posttranslational loss of the mutant AIF protein induces severe myopathy associated with a lower number of cytochrome c oxidase-positive muscle fibers. At a later stage, Aifm1 (R200 del) knockin mice manifest peripheral neuropathy, but they do not show neurodegenerative processes in the cerebellum, as observed in age-matched hypomorphic Harlequin (Hq) mutant mice. Quantitative proteomic and biochemical data highlight common molecular signatures of mitochondrial diseases, including aberrant folate-driven one-carbon metabolism and sustained Akt/mTOR signaling.
conclusionOur findings indicate metabolic defects and distinct tissue-specific vulnerability due to a disease-causing AIFM1 mutation, with many pathological hallmarks that resemble those seen in patients.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.