Mitofusin 2 dysfunction and disease in mice and men [PDF]
Frontiers in Physiology, 2020 A causal relationship between Mitofusin (MFN) 2 gene mutations and the hereditary axonal neuropathy Charcot-Marie-Tooth disease type 2A (CMT2A) was described over 15 years ago. During the intervening period much has been learned about MFN2 functioning in
Dorn, Gerald W, II
core +7 more sources
Docking and stability defects in mitofusin highlight the proteasome as a potential therapeutic target [PDF]
iScience, 2023 Summary: Defects in mitochondrial fusion are at the base of many diseases. Mitofusins power membrane-remodeling events via self-interaction and GTP hydrolysis.
Ira Buntenbroich +8 more
doaj +2 more sources
Role of Mitofusins and Mitophagy in Life or Death Decisions [PDF]
Frontiers in Cell and Developmental Biology, 2020 Mitochondria entail an incredible dynamism in their morphology, impacting death signaling and selective elimination of the damaged organelles. In turn, by recycling the superfluous or malfunctioning mitochondria, mostly prevalent during aging, mitophagy ...
Mariana Joaquim +1 more
doaj +3 more sources
Valosin-containing protein (VCP/p97) inhibitors relieve Mitofusin-dependent mitochondrial defects due to VCP disease mutants [PDF]
eLife, 2017 Missense mutations of valosin-containing protein (VCP) cause an autosomal dominant disease known as inclusion body myopathy, Paget disease with frontotemporal dementia (IBMPFD) and other neurodegenerative disorders.
Ting Zhang +4 more
doaj +3 more sources
Pharmacophore-Based Design of Phenyl-[hydroxycyclohexyl] Cycloalkyl-Carboxamide Mitofusin Activators with Improved Neuronal Activity [PDF]
, 2021 Mitochondrial fragmentation from defective fusion or unopposed fission contributes to many neurodegenerative diseases. Small molecule mitofusin activators reverse mitochondrial fragmentation in vitro, promising a novel therapeutic approach.
Sidney B. Williams (11306623) +7 more
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The INs and OUTs of mitofusins [PDF]
Journal of Cell Biology, 2018 Mitofusins are outer membrane proteins essential for mitochondrial fusion. Their accepted topology posits that both N and C termini face the cytoplasm. In this issue, Mattie et al. (2018. J. Cell Biol. https://doi.org/10.1083/jcb.201611194) demonstrate instead that their C termini reside in the intermembrane space. These findings call for a revision of
Giacomello, Marta, Scorrano, Luca
openaire +3 more sources
Mitofusin 2 but not mitofusin 1 mediates Bcl-XL-induced mitochondrial aggregation [PDF]
Journal of Cell Science, 2020 ABSTRACT Bcl-2 family proteins, as central players of the apoptotic program, participate in regulation of the mitochondrial network. Here, a quantitative live-cell fluorescence resonance energy transfer (FRET) two-hybrid assay was used to confirm the homo-/hetero-oligomerization of mitofusins 2 and 1 (MFN2 and MFN1), and also demonstrate
Mengyan Du +9 more
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Mitochondrial dysfunction and pharmacodynamics of mitofusin activation in murine Charcot-Marie-Tooth disease type 2A [PDF]
, 2022 Mitofusin (MFN) 1 and MFN2 are dynamin GTPase family mitochondrial proteins that mediate mitochondrial fusion requiring MFN conformational shifts, formation of macromolecular complexes on and between mitochondria, and GTP hydrolysis.
Zhang, Lihong +4 more
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Mitofusin-mediated ER stress triggers neurodegeneration in pink1/parkin models of Parkinson's disease. [PDF]
, 2016 Mutations in PINK1 and PARKIN cause early-onset Parkinson's disease (PD), thought to be due to mitochondrial toxicity. Here, we show that in Drosophila pink1 and parkin mutants, defective mitochondria also give rise to endoplasmic reticulum (ER) stress ...
C. Jones (2411536) +8 more
core +4 more sources
Mitofusins: from mitochondria to fertility
Cellular and Molecular Life Sciences, 2022 AbstractGerm cell formation and embryonic development require ATP synthesized by mitochondria. The dynamic system of the mitochondria, and in particular, the fusion of mitochondria, are essential for the generation of energy. Mitofusin1 and mitofusin2, the homologues of Fuzzy onions in yeast and Drosophila, are critical regulators of mitochondrial ...
Shanjiang Zhao +7 more
openaire +2 more sources