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Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion.
Vielhaber S, Debska-Vielhaber G, Peeva V, Schoeler S, Kudin AP, Minin I, Schreiber S, Dengler R, Kollewe K, Zuschratter W, Kornblum C, Zsurka G, Kunz WS. Vielhaber S, et al. Acta Neuropathol. 2013 Feb;125(2):245-56. doi: 10.1007/s00401-012-1036-y. Epub 2012 Aug 28. Acta Neuropathol. 2013. PMID: 22926664
Charcot-Marie-Tooth neuropathy type 2A (CMT2A) is associated with heterozygous mutations in the mitochondrial protein mitofusin 2 (Mfn2) that is intimately involved with the outer mitochondrial membrane fusion machinery. ...Taken together, our f …
Charcot-Marie-Tooth neuropathy type 2A (CMT2A) is associated with heterozygous mutations in the mitochondrial protein mitof …
Disturbed mitochondrial dynamics and neurodegenerative disorders.
Burté F, Carelli V, Chinnery PF, Yu-Wai-Man P. Burté F, et al. Nat Rev Neurol. 2015 Jan;11(1):11-24. doi: 10.1038/nrneurol.2014.228. Epub 2014 Dec 9. Nat Rev Neurol. 2015. PMID: 25486875 Review.
Several proteins that regulate the morphology of the mitochondrial network have been identified, the most widely studied of which are optic atrophy 1 and mitofusin 2. ...These disorders predominantly affect specialized neurons that require precise shut …
Several proteins that regulate the morphology of the mitochondrial network have been identified, the most widely studied of which are …
Mitofusin 2 mutation drives cell proliferation in Charcot-Marie-Tooth 2A fibroblasts.
Zanfardino P, Longo G, Amati A, Morani F, Picardi E, Girolamo F, Pafundi M, Cox SN, Manzari C, Tullo A, Doccini S, Santorelli FM, Petruzzella V. Zanfardino P, et al. Hum Mol Genet. 2023 Jan 6;32(2):333-350. doi: 10.1093/hmg/ddac201. Hum Mol Genet. 2023. PMID: 35994048
Dominant mutations in ubiquitously expressed mitofusin 2 gene (MFN2) cause Charcot-Marie-Tooth type 2A (CMT2A; OMIM 609260), an inherited sensory-motor neuropathy that affects peripheral nerve axons. Mitofusin 2 protein has been found to …
Dominant mutations in ubiquitously expressed mitofusin 2 gene (MFN2) cause Charcot-Marie-Tooth type 2A (CMT2A; OMIM 609 …
Clinical, Genetic, and Disability Profile of Pediatric Distal Hereditary Motor Neuropathy.
Argente-Escrig H, Burns J, Donlevy G, Frasquet M, Cornett K, Sevilla T, Menezes MP. Argente-Escrig H, et al. Neurology. 2021 Jan 19;96(3):e423-e432. doi: 10.1212/WNL.0000000000011054. Epub 2020 Oct 16. Neurology. 2021. PMID: 33067402
Disability was moderate on the CMTPedS (mean [SD] 18.2 [6.3], n = 16), with balance and long jump being the most affected and sensation items and grip strength the least affected. Over 1 year, the CMTPedS total score deteriorated, on average 1.5 points (SD 3.7) or 9 …
Disability was moderate on the CMTPedS (mean [SD] 18.2 [6.3], n = 16), with balance and long jump being the most affected and sensati …
Mitochondrial quality control in neurodegenerative diseases.
Dupuis L. Dupuis L. Biochimie. 2014 May;100:177-83. doi: 10.1016/j.biochi.2013.07.033. Epub 2013 Aug 16. Biochimie. 2014. PMID: 23958438 Review.
Mutations causing genetic forms of Parkinson's disease or hereditary neuropathies have been recently shown to affect key molecular players involved in the recycling of defective mitochondria, most notably PARKIN, PINK1, Mitofusin 2 or dynein hea …
Mutations causing genetic forms of Parkinson's disease or hereditary neuropathies have been recently shown to affect key molec …
Preclinical evaluation of candidate "kill or cure" strategies to treat MFN2-related lipodystrophy.
Luijten I, Weng X, Kibildyte U, Buchan J, Onishi A, Mann J, McKay E, Savage D, Semple RK. Luijten I, et al. Mol Med. 2025 Aug 4;31(1):273. doi: 10.1186/s10020-025-01314-2. Mol Med. 2025. PMID: 40759924 Free PMC article.
BACKGROUND: The mitofusin 2 (MFN2) R707W mutation causes debilitating human lipodystrophy featuring lower body adipose loss, upper body adipose hyperplasia, and dyslipidaemic insulin resistance. ...Cell survival, mitochondrial network morphology and in …
BACKGROUND: The mitofusin 2 (MFN2) R707W mutation causes debilitating human lipodystrophy featuring lower body adipose …
Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease.
Niemann A, Berger P, Suter U. Niemann A, et al. Neuromolecular Med. 2006;8(1-2):217-42. doi: 10.1385/nmm:8:1-2:217. Neuromolecular Med. 2006. PMID: 16775378 Review.
We review the putative functions and malfunctions of proteins encoded by genes mutated in Charcot-Marie-Tooth disease (CMT; inherited motor and sensory neuropathies) in normal and affected peripheral nerves. ...Often, this relates to the intimate connection b …
We review the putative functions and malfunctions of proteins encoded by genes mutated in Charcot-Marie-Tooth disease (CMT; in …
Acquired Expression of Mutant Mitofusin 2 Causes Progressive Neurodegeneration and Abnormal Behavior.
Ishikawa K, Yamamoto S, Hattori S, Nishimura N, Tani H, Mito T, Matsumoto H, Miyakawa T, Nakada K. Ishikawa K, et al. J Neurosci. 2019 Feb 27;39(9):1588-1604. doi: 10.1523/JNEUROSCI.2139-18.2018. Epub 2019 Jan 3. J Neurosci. 2019. PMID: 30606759 Free PMC article.
Neurons have high plasticity in developmental and juvenile stages that decreases in adulthood. Mitochondrial dynamics are highly important in neurons to maintain normal function. To compare dependency on mitochondrial dynamics in juvenile and adult stages, we …
Neurons have high plasticity in developmental and juvenile stages that decreases in adulthood. Mitochondrial dynamics are highly impo …
Inhibiting MARCH5/Mfn2 signaling as an alternative strategy to protect cardiomyocytes from hypoxia-induced mitochondrial dysfunction.
Zoabi FH, Zerihun M, Lizarovich R, Torre CD, Davis L, Ertracht O, Barsheshet M, Atar S, Shalev DE, Zotti M, Senderowitz H, Qvit N. Zoabi FH, et al. Comput Struct Biotechnol J. 2025 Jul 2;27:3045-3065. doi: 10.1016/j.csbj.2025.07.001. eCollection 2025. Comput Struct Biotechnol J. 2025. PMID: 40687994 Free PMC article.
The mitochondrial E3 ubiquitin ligase membrane-associated RING-CH-type finger 5 (MARCH5) and the GTPase Mitofusin 2 (Mfn2) both play crucial roles in regulating mitochondrial dynamics, which are essential for cellular homeostasis. ...Treatment with CVP …
The mitochondrial E3 ubiquitin ligase membrane-associated RING-CH-type finger 5 (MARCH5) and the GTPase Mitofusin 2 (Mf …
Disruption of mitochondrial dynamics affects behaviour and lifespan in Caenorhabditis elegans.
Byrne JJ, Soh MS, Chandhok G, Vijayaraghavan T, Teoh JS, Crawford S, Cobham AE, Yapa NMB, Mirth CK, Neumann B. Byrne JJ, et al. Cell Mol Life Sci. 2019 May;76(10):1967-1985. doi: 10.1007/s00018-019-03024-5. Epub 2019 Mar 6. Cell Mol Life Sci. 2019. PMID: 30840087 Free PMC article.
Consequently, mitochondrial dysfunction is associated with a range of human diseases. Fundamental to their function is the ability to transition through fission and fusion states, which is regulated by several GTPases. ...From ultrastructural analysis, we rev …
Consequently, mitochondrial dysfunction is associated with a range of human diseases. Fundamental to their function is …
25 results