Effects of MFN2 mutation (Homo sapiens)
From WikiPathways
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<Pathway xmlns="http://pathvisio.org/GPML/2013a" Name="Effects of MFN2 mutation" Version="20240220" Organism="Homo sapiens"> | <Pathway xmlns="http://pathvisio.org/GPML/2013a" Name="Effects of MFN2 mutation" Version="20240220" Organism="Homo sapiens"> | ||
<Comment Source="WikiPathways-description">Mutation in mitofusin-2 (MFN2) and all the proteins that are consequently changed.</Comment> | <Comment Source="WikiPathways-description">Mutation in mitofusin-2 (MFN2) and all the proteins that are consequently changed.</Comment> | ||
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Revision as of 01:42, 23 April 2024
Description
Mutation in mitofusin-2 (MFN2) and all the proteins that are consequently changed.
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- Fang D, Yan S, Yu Q, Chen D, Yan SS; ''Mfn2 is Required for Mitochondrial Development and Synapse Formation in Human Induced Pluripotent Stem Cells/hiPSC Derived Cortical Neurons.''; Sci Rep, 2016 PubMed Europe PMC Scholia
- Larrea D, Pera M, Gonnelli A, Quintana-Cabrera R, Akman HO, Guardia-Laguarta C, Velasco KR, Area-Gomez E, Dal Bello F, De Stefani D, Horvath R, Shy ME, Schon EA, Giacomello M; ''MFN2 mutations in Charcot-Marie-Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics.''; Hum Mol Genet, 2019 PubMed Europe PMC Scholia
- Zanfardino P, Amati A, Petracca EA, Santorelli FM, Petruzzella V; ''Torin1 restores proliferation rate in Charcot-Marie-Tooth disease type 2A cells harbouring MFN2 (mitofusin 2) mutation.''; Acta Myol, 2022 PubMed Europe PMC Scholia
- Misko A, Jiang S, Wegorzewska I, Milbrandt J, Baloh RH; ''Mitofusin 2 is necessary for transport of axonal mitochondria and interacts with the Miro/Milton complex.''; J Neurosci, 2010 PubMed Europe PMC Scholia
- Rizzo F, Ronchi D, Salani S, Nizzardo M, Fortunato F, Bordoni A, Stuppia G, Del Bo R, Piga D, Fato R, Bresolin N, Comi GP, Corti S; ''Selective mitochondrial depletion, apoptosis resistance, and increased mitophagy in human Charcot-Marie-Tooth 2A motor neurons.''; Hum Mol Genet, 2016 PubMed Europe PMC Scholia
- Wang JT, Medress ZA, Barres BA; ''Axon degeneration: molecular mechanisms of a self-destruction pathway.''; J Cell Biol, 2012 PubMed Europe PMC Scholia
- Misko AL, Sasaki Y, Tuck E, Milbrandt J, Baloh RH; ''Mitofusin2 mutations disrupt axonal mitochondrial positioning and promote axon degeneration.''; J Neurosci, 2012 PubMed Europe PMC Scholia
- Kumar A, Larrea D, Pero ME, Infante P, Conenna M, Shin GJ, Grueber WB, Di Marcotullio L, Area-Gomez E, Bartolini F; ''MFN2-dependent recruitment of ATAT1 coordinates mitochondria motility with alpha-tubulin acetylation and is disrupted in CMT2A.''; bioRxiv, 2023 PubMed Europe PMC Scholia
- Mou Y, Dein J, Chen Z, Jagdale M, Li XJ; ''MFN2 Deficiency Impairs Mitochondrial Transport and Downregulates Motor Protein Expression in Human Spinal Motor Neurons.''; Front Mol Neurosci, 2021 PubMed Europe PMC Scholia
- Chandhok G, Lazarou M, Neumann B; ''Structure, function, and regulation of mitofusin-2 in health and disease.''; Biol Rev Camb Philos Soc, 2018 PubMed Europe PMC Scholia
- Baloh RH, Schmidt RE, Pestronk A, Milbrandt J; ''Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations.''; J Neurosci, 2007 PubMed Europe PMC Scholia
- Lee S, Min KT; ''The Interface Between ER and Mitochondria: Molecular Compositions and Functions.''; Mol Cells, 2018 PubMed Europe PMC Scholia
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