Correcting mitochondrial fusion by manipulating mitofusin conformations [PDF]
Nature, 2016 Mitochondria are dynamic organelles that exchange contents and undergo remodelling during cyclic fusion and fission. Genetic mutations in MFN2 (the gene encoding mitofusin 2) interrupt mitochondrial fusion and cause the untreatable neurodegenerative condition Charcot-Marie-Tooth disease type 2A (CMT2A). It has not yet been possible to directly modulate
Antonietta, Franco +14 more
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The Effect of a Novel c.820C>T (Arg274Trp) Mutation in the Mitofusin 2 Gene on Fibroblast Metabolism and Clinical Manifestation in a Patient. [PDF]
PLoS ONE, 2017 Charcot-Marie-Tooth disease type 2A (CMT2A) is an autosomal dominant axonal peripheral neuropathy caused by mutations in the mitofusin 2 gene (MFN2).
Małgorzata Beręsewicz +7 more
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Restoring mitofusin balance prevents axonal degeneration in a Charcot-Marie-Tooth type 2A model [PDF]
, 2019 Mitofusin-2 (MFN2) is a mitochondrial outer-membrane protein that plays a pivotal role in mitochondrial dynamics in most tissues, yet mutations in MFN2, which cause Charcot-Marie-Tooth disease type 2A (CMT2A), primarily affect the nervous system.
A.K.M.G. Muhammad +23 more
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Frontiers in Neuroscience, 2019 Parkinson’s disease (PD) is characterized by selective degeneration of dopaminergic (DAergic) neurons in the substantia nigra pars compacta (SNpc). α-synuclein (α-syn) is known to regulate mitochondrial function and both PINK1 and Parkin have been shown ...
Mahesh Ramalingam +2 more
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RBR E3 ubiquitin ligases: new structures, new insights, new questions [PDF]
, 2014 The RBR (RING-BetweenRING-RING) or TRIAD [two RING fingers and a DRIL (double RING finger linked)] E3 ubiquitin ligases comprise a group of 12 complex multidomain enzymes.
Shaw, Gary S. +2 more
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The MFN1 and MFN2 mitofusins promote clustering between mitochondria and peroxisomes
Communications Biology, 2022 The MFN1 and MFN2 mitofusin proteins localize to the outer mitochondrial membrane, where they may help functionally tether mitochondria to peroxisomes.
Yinbo Huo +4 more
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Rapid degradation of mutant SLC25A46 by the ubiquitin-proteasome system results in MFN1/2-mediated hyperfusion of mitochondria. [PDF]
, 2017 SCL25A46 is a mitochondrial carrier protein that surprisingly localizes to the outer membrane and is distantly related to Ugo1. Here we show that a subset of SLC25A46 interacts with mitochondrial dynamics components and the MICOS complex.
Claypool, Steven M +6 more
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Parkin interacts with Ambra1 to induce mitophagy [PDF]
, 2011 Mutations in the gene encoding Parkin are a major cause of recessive Parkinson's disease. Recent work has shown that Parkin translocates from the cytosol to depolarized mitochondria and induces their autophagic removal (mitophagy). However, the molecular
Cornelissen, Tom +6 more
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OPA1 mutation and late-onset cardiomyopathy: mitochondrial dysfunction and mtDNA instability. [PDF]
, 2012 BackgroundMitochondrial fusion protein mutations are a cause of inherited neuropathies such as Charcot-Marie-Tooth disease and dominant optic atrophy.
Bers, Donald M +10 more
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Mitophagy: Mitofusin Recruits a Mitochondrial Killer [PDF]
Current Biology, 2013 Parkin is a cytosolic ubiquitin ligase that translocates to damaged mitochondria and promotes their degradation. Recent work demonstrates that a phosphorylated form of the mitochondrial fusion protein Mitofusin 2 serves as a receptor for Parkin translocation to damaged mitochondria.
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