, 2011 Mutations in the gene encoding mitofusin 2 (MFN2) are responsible of about 20% of Charcot-Marie-Tooth disease type 2 (CMT2) case. A great variability exists among CMT2A concerning severity and associated clinical features.
Conte, Amelia +15 more
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[Mitofusin 2 and mitochondrial dynamics in norm and pathology].
Postepy biochemii, 2017 Results of an intensive research performed during last 25 years have revealed that an understanding of biochemical and molecular principles of oxidative phosphorylation has not finished the streak of ground-breaking discoveries of newly identified mitochondrial functions in numerous cellular processes.
Maria, Kawalec +3 more
openaire +1 more source
Novel Relationship between Mitofusin 2-Mediated Mitochondrial Hyperfusion, Metabolic Remodeling, and Glycolysis in Pulmonary Arterial Endothelial Cells. [PDF]
Int J Mol Sci, 2023 Yegambaram M +10 more
europepmc +1 more source
A mitofusin 2/HIF1α axis sets a maturation checkpoint in regenerating skeletal muscle. [PDF]
J Clin Invest, 2022 Wang X +9 more
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High-fat diet causes mitochondrial damage and downregulation of mitofusin-2 and optic atrophy-1 in multiple organs. [PDF]
J Clin Biochem Nutr, 2023 Zheng P +7 more
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Expression of mitofusin 2R94Q in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A
, 2017 Charcot-Marie-Tooth disease type 2A is an autosomal dominant axonal form of peripheral neuropathy caused by mutations in the mitofusin 2 gene. Mitofusin 2 encodes a mitochondrial outer membrane protein that participates in mitochondrial fusion in ...
Courvoisier, Delphine S. +6 more
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Atypical peripheral actin band formation via overactivation of RhoA and nonmuscle myosin II in mitofusin 2-deficient cells. [PDF]
Elife, 2023 Wang Y +19 more
europepmc +1 more source
Mitofusin 2 (MFN2) mutations cause mitochondrial DNA instability in Charcot-Marie-Tooth disease
, 2012 Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of inherited peripheral neuropathies and it affects at least 1 in 2,500 individuals. A specific autosomal-dominant axonal CMT subtype, hereditary motor and sensory neuropathy type VI (HMSN-VI ...
Patrick Yu-Wai-Man; Kamil Sitarz; Joanna Stewart; Angela Pyle; Mary Reilly; Rita Horvath; Patrick Chinnery
core
Retraction: Mitofusin-2 enhances mitochondrial contact with the endoplasmic reticulum and promotes diabetic cardiomyopathy. [PDF]
Front Physiol, 2022 Frontiers Editorial Office.
europepmc +1 more source
Mitofusin-2 mediates cannabidiol-induced neuroprotection against cerebral ischemia in rats. [PDF]
Acta Pharmacol Sin, 2023 Xu BT +6 more
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