Results 21 to 30 of about 17,663,383 (215)

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, Anna Boratyńska-Jasińska, Łukasz Charzewski, Maria Kawalec, Dagmara Kabzińska, Andrzej Kochański, Krystiana A Krzyśko, Barbara Zabłocka   +7 more
doaj   +2 more sources

Mitofusin 2 Deficiency Affects Energy Metabolism and Mitochondrial Biogenesis in MEF Cells. [PDF]

PLoS ONE, 2015
Mitofusin 2 (Mfn2), mitochondrial outer membrane protein which is involved in rearrangement of these organelles, was first described in pathology of hypertension and diabetes, and more recently much attention is paid to its functions in Charcot-Marie ...
Maria Kawalec, Anna Boratyńska-Jasińska, Małgorzata Beręsewicz, Dorota Dymkowska, Krzysztof Zabłocki, Barbara Zabłocka   +5 more
doaj   +2 more sources

Mitofusin-2 Expression Is Implicated in Cervical Cancer Pathogenesis [PDF]

Anticancer Research, 2018
BACKGROUND/AIM: It remains unclear whether mitofusin-2 (MFN2) functions as a tumour suppressor or oncogene in cancer progression. In this study we, therefore, aimed to investigate the effect of MFN2 on the pathogenesis of cervical cancer.
현영민, 장향란, 안성용
core   +4 more sources

Burst mitofusin activation reverses neuromuscular dysfunction in murine CMT2A

eLife, 2020
Charcot–Marie-Tooth disease type 2A (CMT2A) is an untreatable childhood peripheral neuropathy caused by mutations of the mitochondrial fusion protein, mitofusin (MFN) 2.
Antonietta Franco, Xiawei Dang, Emily K Walton, Joshua N Ho, Barbara Zablocka, Cindy Ly, Timothy M Miller, Robert H Baloh, Michael E Shy, Andrew S Yoo, Gerald W Dorn II   +10 more
doaj   +3 more sources

Presenilin 2 Modulates Endoplasmic Reticulum-Mitochondria Coupling by Tuning the Antagonistic Effect of Mitofusin 2

Cell Reports, 2016
Communication between organelles plays key roles in cell biology. In particular, physical and functional coupling of the endoplasmic reticulum (ER) and mitochondria is crucial for regulation of various physiological and pathophysiological processes. Here,
Riccardo Filadi, Elisa Greotti, Gabriele Turacchio, Alberto Luini, Tullio Pozzan, Paola Pizzo   +5 more
doaj   +2 more sources

Prognostic impact of mitofusin 2 expression in colon cancer. [PDF]

Transl Cancer Res, 2022
Mitofusin 2 (MFN2) is involved in several biological processes, including cancer. MFN2 is downregulated in some types of cancer and inhibits cancer cell proliferation, migration, and invasion. However, the relationship between MFN2 and colon cancer remains unknown.In this study, MFN2 expression was investigated using The Cancer Genome Atlas (TCGA) and ...
Cheng X, Li Y, Liu F.
europepmc   +3 more sources

Unveiling a Rare Phenotypic Presentation of Mitofusin 2 Mutation as Cerebellar Ataxia [PDF]

Annals of Indian Academy of Neurology
Priya Robert, Shaji Cheruvallil Velayudhan, Haris Anjamparuthikal Aboobekar, Prasanth Sudhakaran   +3 more
doaj   +2 more sources

RETRACTED: High Glucose Activated Cardiac Fibroblasts by a Disruption of Mitochondria-Associated Membranes

Frontiers in Physiology, 2021
Cardiac fibrosis is evident even in the situation without a significant cardiomyocyte loss in diabetic cardiomyopathy and a high glucose (HG) level independently activates the cardiac fibroblasts (CFs) and promotes cell proliferation.
Ling-Yu Zhang, Rui-Ting Lin, Hao-Ran Chen, Yong-Cong Yang, Meng-Fei Lin, Lei-Gang Tian, Zhi-Qiong Pan, Lin Lin, Liang-Liang Zhu, Zhen-Jie Gu, Xue-Wen Chen, Yu-Jing Li, Shuai Chen, Shi-Yun Cai   +13 more
doaj   +1 more source

Mitofusin-2 Regulates Platelet Mitochondria and Function. [PDF]

Circ Res
BACKGROUND: Single-nucleotide polymorphisms linked with the rs1474868 T allele ( MFN2 [mitofusin-2] T/T) in the human mitochondrial fusion protein MFN2 gene are associated with reduced platelet MFN2 RNA expression and platelet ...
Jacob S, Kosaka Y, Bhatlekar S, Denorme F, Benzon H, Moody A, Moody V, Tugolukova EA, Hull G, Kishimoto N, Manne BK, Guo L, Souvenir R, Seliger BJ, Eustes AS, Hoerger K, Tolley ND, Fatahian AN, Boudina S, Christiani DC, Wei Y, Ju C, Campbell RA, Rondina MT, Abel ED, Bray PF, Weyrich AS, Rowley JW.   +27 more
europepmc   +3 more sources

Essential lipid autacoids rewire mitochondrial energy efficiency in metabolic dysfunction‐associated fatty liver disease

Hepatology, EarlyView., 2022
Increased liver content of DHA‐derived small lipid autacoids (i.e resolvin D1 and maresin 1) associates with enhanced mitochondrial oxidative phosphorylation, fatty acid β‐oxidation and bioenergetic metabolic flux. These features provide hepatic protection from steatotic, pro‐inflammatory and fibrogenic insults.
Cristina López‐Vicario, David Sebastián, Mireia Casulleras, Marta Duran‐Güell, Roger Flores‐Costa, Ferran Aguilar, Juan José Lozano, Ingrid W. Zhang, Esther Titos, Jing X. Kang, Antonio Zorzano, Makoto Arita, Joan Clària   +12 more
wiley   +1 more source