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AIFM1 beyond cell death: An overview of this OXPHOS-inducing factor in mitochondrial diseases

Apoptosis-inducing factor (AIF) is a mitochondrial intermembrane space flavoprotein with diverse functions in cellular physiology. In this regard, a large number of studies have elucidated AIF's participation to chromatin condensation during cell death in development, cancer, cardiovascular and...

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Detalles Bibliográficos
Autores principales: Wischhof, Lena, Scifo, Enzo, Ehninger, Dan, Bano, Daniele
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9420475/
https://www.ncbi.nlm.nih.gov/pubmed/35994922
http://dx.doi.org/10.1016/j.ebiom.2022.104231
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author Wischhof, Lena
Scifo, Enzo
Ehninger, Dan
Bano, Daniele
author_facet Wischhof, Lena
Scifo, Enzo
Ehninger, Dan
Bano, Daniele
author_sort Wischhof, Lena
collection PubMed
description Apoptosis-inducing factor (AIF) is a mitochondrial intermembrane space flavoprotein with diverse functions in cellular physiology. In this regard, a large number of studies have elucidated AIF's participation to chromatin condensation during cell death in development, cancer, cardiovascular and brain disorders. However, the discovery of rare AIFM1 mutations in patients has shifted the interest of biomedical researchers towards AIF's contribution to pathogenic mechanisms underlying inherited AIFM1-linked metabolic diseases. The functional characterization of AIF binding partners has rapidly advanced our understanding of AIF biology within the mitochondria and beyond its widely reported role in cell death. At the present time, it is reasonable to assume that AIF contributes to cell survival by promoting biogenesis and maintenance of the mitochondrial oxidative phosphorylation (OXPHOS) system. With this review, we aim to outline the current knowledge around the vital role of AIF by primarily focusing on currently reported human diseases that have been linked to AIFM1 deficiency.
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spelling pubmed-94204752022-08-29 AIFM1 beyond cell death: An overview of this OXPHOS-inducing factor in mitochondrial diseases Wischhof, Lena Scifo, Enzo Ehninger, Dan Bano, Daniele eBioMedicine Review Apoptosis-inducing factor (AIF) is a mitochondrial intermembrane space flavoprotein with diverse functions in cellular physiology. In this regard, a large number of studies have elucidated AIF's participation to chromatin condensation during cell death in development, cancer, cardiovascular and brain disorders. However, the discovery of rare AIFM1 mutations in patients has shifted the interest of biomedical researchers towards AIF's contribution to pathogenic mechanisms underlying inherited AIFM1-linked metabolic diseases. The functional characterization of AIF binding partners has rapidly advanced our understanding of AIF biology within the mitochondria and beyond its widely reported role in cell death. At the present time, it is reasonable to assume that AIF contributes to cell survival by promoting biogenesis and maintenance of the mitochondrial oxidative phosphorylation (OXPHOS) system. With this review, we aim to outline the current knowledge around the vital role of AIF by primarily focusing on currently reported human diseases that have been linked to AIFM1 deficiency. Elsevier 2022-08-19 /pmc/articles/PMC9420475/ /pubmed/35994922 http://dx.doi.org/10.1016/j.ebiom.2022.104231 Text en © 2022 The Authors https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Review
Wischhof, Lena
Scifo, Enzo
Ehninger, Dan
Bano, Daniele
AIFM1 beyond cell death: An overview of this OXPHOS-inducing factor in mitochondrial diseases
title AIFM1 beyond cell death: An overview of this OXPHOS-inducing factor in mitochondrial diseases
title_full AIFM1 beyond cell death: An overview of this OXPHOS-inducing factor in mitochondrial diseases
title_fullStr AIFM1 beyond cell death: An overview of this OXPHOS-inducing factor in mitochondrial diseases
title_full_unstemmed AIFM1 beyond cell death: An overview of this OXPHOS-inducing factor in mitochondrial diseases
title_short AIFM1 beyond cell death: An overview of this OXPHOS-inducing factor in mitochondrial diseases
title_sort aifm1 beyond cell death: an overview of this oxphos-inducing factor in mitochondrial diseases
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9420475/
https://www.ncbi.nlm.nih.gov/pubmed/35994922
http://dx.doi.org/10.1016/j.ebiom.2022.104231
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