Results 21 to 30 of about 17,474 (245)

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   +1 more source

A Novel ENU-Induced Mfn2 Mutation Causes Motor Deficits in Mice without Causing Peripheral Neuropathy

Biology, 2023
Mitochondrial fission and fusion are required for maintaining functional mitochondria. The mitofusins (MFN1 and MFN2) are known for their roles in mediating mitochondrial fusion.
Timothy J. Hines, Janice Bailey, Hedi Liu, Anyonya R. Guntur, Kevin L. Seburn, Samia L. Pratt, Jonathan R. Funke, Lisa M. Tarantino, Robert W. Burgess   +8 more
doaj   +1 more source

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

The NADPH oxidase NOX4 regulates redox and metabolic homeostasis preventing HCC progression

Hepatology, EarlyView., 2022
Loss of NOX4 in HCC tumor cells induces metabolic reprogramming in a Nrf2/MYC‐dependent manner to promote HCC progression. Abstract Background and Aims The NADPH oxidase NOX4 plays a tumor‐suppressor function in HCC. Silencing NOX4 confers higher proliferative and migratory capacity to HCC cells and increases their in vivo tumorigenic potential in ...
Irene Peñuelas‐Haro, Rut Espinosa‐Sotelo, Eva Crosas‐Molist, Macarena Herranz‐Itúrbide, Daniel Caballero‐Díaz, Ania Alay, Xavier Solé, Emilio Ramos, Teresa Serrano, María L. Martínez‐Chantar, Ulla G. Knaus, José M. Cuezva, Antonio Zorzano, Esther Bertran, Isabel Fabregat   +14 more
wiley   +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

Mitochondrial stress in advanced fibrosis and cirrhosis associated with chronic hepatitis B, chronic hepatitis C, or nonalcoholic steatohepatitis

Hepatology, EarlyView., 2022
Adaptive mitochondrial mechanisms allow mitochondrial resilience and prevent the worsening of fibrosis, while deregulation of these mechanisms promotes the progression from no/minimal‐mild (F0‐F2) fibrosis to advanced fibrosis and cirrhosis (F3‐F4). Abstract Background and Aims Hepatitis B virus (HBV) infection causes oxidative stress (OS) and alters ...
Dimitri Loureiro, Issam Tout, Stéphanie Narguet, Cheikh Mohamed Bed, Morgane Roinard, Ahmad Sleiman, Nathalie Boyer, Nathalie Pons‐Kerjean, Corinne Castelnau, Nathalie Giuly, Dorothy Tonui, Vassili Soumelis, Jamel El Benna, Patrick Soussan, Richard Moreau, Valérie Paradis, Abdellah Mansouri, Tarik Asselah   +17 more
wiley   +1 more source

RIPK3 dampens mitochondrial bioenergetics and lipid droplet dynamics in metabolic liver disease

Hepatology, EarlyView., 2022
RIPK3 dampens mitochondrial bioenergetics and lipid droplet dynamics in metabolic liver disease. Abstract Background and Aims Receptor‐interacting protein kinase 3 (RIPK3) mediates NAFLD progression, but its metabolic function is unclear. Here, we aimed to investigate the role of RIPK3 in modulating mitochondria function, coupled with lipid droplet (LD)
Marta B. Afonso, Tawhidul Islam, Julie Magusto, Ricardo Amorim, Véronique Lenoir, Rui F. Simões, José Teixeira, Liana C. Silva, Dominique Wendum, Isabelle Jéru, Corinne Vigouroux, Rui E. Castro, Paulo J. Oliveira, Carina Prip‐Buus, Vlad Ratziu, Jérémie Gautheron, Cecília M. P. Rodrigues   +16 more
wiley   +1 more source

Mitochondria Clumping vs. Mitochondria Fusion in CMT2A Diseases

Life, 2022
Phenotypic variations in Charcot-Marie-Tooth disease type 2A (CMT2A) result from the many mutations in the mitochondrial fusion protein, mitofusin 2 (MFN2).
Antonietta Franco, Caroline E. Walton, Xiawei Dang   +2 more
doaj   +1 more source

c-Abl Phosphorylates MFN2 to Regulate Mitochondrial Morphology in Cells under Endoplasmic Reticulum and Oxidative Stress, Impacting Cell Survival and Neurodegeneration

Antioxidants, 2023
The endoplasmic reticulum is a subcellular organelle key in the control of synthesis, folding, and sorting of proteins. Under endoplasmic reticulum stress, an adaptative unfolded protein response is activated; however, if this activation is prolonged ...
Alexis Martinez, Cristian M. Lamaizon, Cristian Valls, Fabien Llambi, Nancy Leal, Patrick Fitzgerald, Cliff Guy, Marcin M. Kamiński, Nibaldo C. Inestrosa, Brigitte van Zundert, Gonzalo I. Cancino, Andrés E. Dulcey, Silvana Zanlungo, Juan J. Marugan, Claudio Hetz, Douglas R. Green, Alejandra R. Alvarez   +16 more
doaj   +1 more source

Regulating a uniter: control of mitofusin 2 expression [PDF]

Cardiovascular Research, 2012
This editorial refers to ‘The promoter activity of human Mfn2 depends on Sp1 in vascular smooth muscle cells’ by E. Sorianello et al. , pp. 38–47, this issue. Sorianello et al. 1 provide important new information on the regulation on mitofusin (Mfn)2 expression.
Anne A, Knowlton, Le, Chen
openaire   +2 more sources