Results 21 to 30 of about 14,571 (197)

The Genotype and Phenotype Features in a Large Chinese MFN2 Mutation Cohort [PDF]

Frontiers in Neurology, 2021
Introduction:Charcot–Marie–Tooth disease type 2A (CMT2A) is a group of clinically and genetically heterogeneous disorders, which is mostly caused by mutations of themitofusin2(MFN2) gene. As the genotype–phenotype characteristics of CMT2A were still incompletely understood, we further explored the spectrum of CMT2A variants in China and demonstrated ...
Yan Ma, Yan Ma, Yan Ma, Aping Sun, Aping Sun, Aping Sun, Yingshuang Zhang, Yingshuang Zhang, Yingshuang Zhang, Dongsheng Fan, Dongsheng Fan, Dongsheng Fan, Xiaoxuan Liu, Xiaoxuan Liu, Xiaoxuan Liu   +14 more
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Two rare human mitofusin 2 mutations alter mitochondrial dynamics and induce retinal and cardiac pathology in Drosophila. [PDF]

PLoS ONE, 2012
Mitochondrial fusion is essential to organelle homeostasis and organ health. Inexplicably, loss of function mutations of mitofusin 2 (Mfn2) specifically affect neurological tissue, causing Charcot Marie Tooth syndrome (CMT) and atypical optic atrophy. As
William H Eschenbacher, Moshi Song, Yun Chen, Poonam Bhandari, Peter Zhao, Casey C Jowdy, John T Engelhard, Gerald W Dorn   +7 more
doaj   +1 more source

MFN2 mutations cause compensatory mitochondrial DNA proliferation [PDF]

Brain, 2012
ARTICLE Sir, We read with great interest the report of a Tunisian family by Rouzier et al . (2011) describing the neurological disorder linked to a novel heterozygous missense mutation in MFN2 (1p36.2) (Rouzier et al ., 2011). MFN2 mutations typically cause autosomal dominant axonal Charcot–Marie–Tooth disease (CMT2A, OMIM 609260), with peripheral ...
Sitarz, Kamil S, Yu-Wai-Man, Patrick, Pyle, Angela, Stewart, Joanna D, Rautenstrauss, Bernd, Seeman, Pavel, Reilly, Mary M, Horvath, Rita, Chinnery, Patrick F   +8 more
openaire   +6 more sources

Dysregulation of Mfn2 and Drp-1 proteins in heart failure [PDF]

Canadian Journal of Physiology and Pharmacology, 2014
Therapeutic approaches for cardiac regenerative mechanisms have been explored over the past decade to target various cardiovascular diseases (CVD). Structural and functional aberrations of mitochondria have been observed in CVD. The significance of mitochondrial maturation and function in cardiomyocytes is distinguished by their attribution to ...
Srikanth, Givvimani, Sathnur, Pushpakumar, Sudhakar, Veeranki, Suresh C, Tyagi   +3 more
openaire   +2 more sources

Mitofusin 2 protects hepatocyte mitochondrial function from damage induced by GCDCA. [PDF]

PLoS ONE, 2013
Mitochondrial impairment is hypothesized to contribute to the pathogenesis of chronic cholestatic liver diseases. Mitofusin 2 (Mfn2) regulates mitochondrial morphology and signaling and is involved in the development of numerous mitochondrial-related ...
Yongbiao Chen, Lizhi Lv, Zhelong Jiang, Hejun Yang, Song Li, Yi Jiang   +5 more
doaj   +1 more source

MFN2 knockdown promotes osteogenic differentiation of iPSC-MSCs through aerobic glycolysis mediated by the Wnt/β-catenin signaling pathway

Stem Cell Research & Therapy, 2022
Background Mitofusin-2 (MFN2) is a kind of GTPase that participates in the regulation of mitochondrial fusion, which is related to a variety of physiological and pathological processes, including energy metabolism, cell differentiation, and embryonic ...
Lidi Deng, Siqi Yi, Xiaohui Yin, Yang Li, Qingxian Luan   +4 more
doaj   +1 more source

MFN2, a new gene responsible for mitochondrial DNA depletion [PDF]

Brain, 2012
Sir, we read with great interest the paper by Rouzier et al. (2012) reporting a novel dominant MFN2 missense mutation (c.629A>T, p.D210V) in a large family displaying an optic atrophy ‘plus’ phenotype. Importantly, the authors identified MFN2 as a new gene implicated in mitochondrial DNA instability as they found multiple mitochondrial DNA deletions in
Florence, Renaldo, Patrizia, Amati-Bonneau, Abdelhamid, Slama, Claudia, Romana, Veronique, Forin, Diane, Doummar, Christine, Barnerias, Joseph, Bursztyn, Michèle, Mayer, Nejib, Khouri, Thierry, Billette de Villemeur, Lydie, Burglen, Pascal, Reynier, Antoinette, Bernabe Gelot, Diana, Rodriguez   +14 more
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The Charcot–Marie Tooth Disease Mutation R94Q in MFN2 Decreases ATP Production but Increases Mitochondrial Respiration under Conditions of Mild Oxidative Stress

Cells, 2019
Charcot−Marie tooth disease is a hereditary polyneuropathy caused by mutations in Mitofusin-2 (MFN2), a GTPase in the outer mitochondrial membrane involved in the regulation of mitochondrial fusion and bioenergetics.
Christina Wolf, Rahel Zimmermann, Osamah Thaher, Diones Bueno, Verena Wüllner, Michael K.E. Schäfer, Philipp Albrecht, Axel Methner   +7 more
doaj   +1 more source

Mitofusin-2 in nucleus accumbens D2-MSNs regulates social dominance and neuronal function

Cell Reports, 2023
Summary: The nucleus accumbens (NAc) is a brain hub regulating motivated behaviors, including social competitiveness. Mitochondrial function in the NAc links anxiety with social competitiveness, and the mitochondrial fusion protein mitofusin 2 (Mfn2) in ...
Sriparna Ghosal, Elias Gebara, Eva Ramos-Fernández, Alessandro Chioino, Jocelyn Grosse, Isabelle Guillot de Suduiraut, Olivia Zanoletti, Bernard Schneider, Antonio Zorzano, Simone Astori, Carmen Sandi   +10 more
doaj   +1 more source

MFN2 Stabilization: A Bridge for Endoplasmic Reticulum Stress Sensitivity in Melanoma [PDF]

Journal of Investigative Dermatology, 2021
In a new article in the Journal of Investigative Dermatology, Wang et al. (2021) report that mitochondrial quality control modulates responses to endoplasmic reticulum (ER) stress in melanoma. They implicate a linear pathway of XBP1, MARCH5, and MFN2 that act together to regulate mitochondrial fission and mitophagy and ultimately mediate melanoma cell ...
Charles H. Adelmann, Inbal Rachmin, David E. Fisher   +2 more
openaire   +2 more sources