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science & technology (215) 215
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1. Full Text Mfn2 is critical for brown adipose tissue thermogenic function
by Boutant, Marie and Kulkarni, Sameer S and Joffraud, Magali and Ratajczak, Joanna and Valera‐Alberni, Miriam and Combe, Roy and Zorzano, Antonio and Cantó, Carles
The EMBO journal, ISSN 0261-4189, 06/2017, Volume 36, Issue 11, pp. 1543 - 1558
lipid droplet | mitofusin 2 | brown adipose tissue | insulin resistance | mitochondrial dynamics | Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Animals | GTP Phosphohydrolases - metabolism | Thermogenesis | Protein Binding | GTP Phosphohydrolases - deficiency | Adipose Tissue, Brown - metabolism | Mice | Mitochondria - metabolism | Perilipin-1 - metabolism | Mice, Knockout | Adipose tissue | Homeostasis | Lipids | Stimulation | Insulin | Ablation | Fission | Skeletal muscle | High fat diet | Steatosis | Energy balance | Mitochondria | Fatty liver | Bioenergetics | Rodents | Quality control | Insulin resistance | Docking | Droplets | Adipose tissue (brown) | Index Medicus | Membrane & Intracellular Transport | Metabolism
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2. Full Text MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2
by Verhoeven, Kristien and Claeys, Kristl G and Züchner, Stephan and Schröder, J. Michael and Weis, Joachim and Ceuterick, Chantal and Jordanova, Albena and Nelis, Eva and De Vriendt, Els and Van Hul, Matthias and Seeman, Pavel and Mazanec, Radim and Saifi, Gulam Mustafa and Szigeti, Kinga and Mancias, Pedro and Butler, Ian J and Kochanski, Andrzej and Ryniewicz, Barbara and De Bleecker, Jan and Van Den Bergh, Peter and Verellen, Christine and Van Coster, Rudy and Goemans, Nathalie and Auer-Grumbach, Michaela and Robberecht, Wim and Milic Rasic, Vedrana and Nevo, Yoram and Tournev, Ivajlo and Guergueltcheva, Velina and Roelens, Filip and Vieregge, Peter and Vinci, Paolo and Moreno, Maria Teresa and Christen, H.-J and Shy, Michael E and Lupski, James R and Vance, Jeffery M and De Jonghe, Peter and Timmerman, Vincent
Brain (London, England : 1878), ISSN 0006-8950, 2006, Volume 129, Issue 8, pp. 2093 - 2102
Mitofusin 2 | Charcot-Marie-Tooth type 2 | Genotype-phenotype correlation | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neurology | Biological and medical sciences | Medical sciences | Diseases of striated muscles. Neuromuscular diseases | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Severity of Illness Index | GTP Phosphohydrolases | Membrane Proteins - genetics | Humans | Middle Aged | Child, Preschool | Electrophysiology | Genotype | Mitochondrial Proteins - genetics | Charcot-Marie-Tooth Disease - pathology | Microscopy, Electron | Charcot-Marie-Tooth Disease - genetics | Sural Nerve - ultrastructure | Phenotype | Adolescent | Age of Onset | Adult | Aged | Charcot-Marie-Tooth Disease - physiopathology | Mutation | Child | Index Medicus | Abridged Index Medicus
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3. Full Text Regulation of ER-mitochondria contacts by Parkin via Mfn2
by Basso, Valentina and Marchesan, Elena and Peggion, Caterina and Chakraborty, Joy and von Stockum, Sophia and Giacomello, Marta and Ottolini, Denis and Debattisti, Valentina and Caicci, Federico and Tasca, Elisabetta and Pegoraro, Valentina and Angelini, Corrado and Antonini, Angelo and Bertoli, Alessandro and Brini, Marisa and Ziviani, Elena
Pharmacological research, ISSN 1043-6618, 12/2018, Volume 138, pp. 43 - 56
Mitochondria | PINK1 | Ubiquitination | Mitofusin | ER-mitochondria synthetic tether | Drosophila model of PD | ER-mitochondria tethering | Parkinson’s disease | Parkin | Parkinson's disease | Ubiquitin | Medical research | Ligases | Cell death | Genes | Physiological aspects | Medicine, Experimental | Cells | Index Medicus
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4. Full Text Oroxylin a promotes PGC-1α/Mfn2 signaling to attenuate hepatocyte pyroptosis via blocking mitochondrial ROS in alcoholic liver disease
by Kai, Jun and Yang, Xiang and Wang, Zhimin and Wang, Feixia and Jia, Yan and Wang, Shijun and Tan, Shanzhong and Chen, Anping and Shao, Jiangjuan and Zhang, Feng and Zhang, Zili and Zheng, Shizhong
Free radical biology & medicine, ISSN 0891-5849, 06/2020, Volume 153, pp. 89 - 102
Mitofusin 2 | Oroxylin A | Pyroptosis | Hepatocyte | Proliferator-activated receptor gamma coactivator 1 alpha | Alcoholic liver disease | Biochemistry & Molecular Biology | Endocrinology & Metabolism | Life Sciences & Biomedicine | Science & Technology | Index Medicus
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5. Full Text Mfn2 deletion in brown adipose tissue protects from insulin resistance and impairs thermogenesis
by Mahdaviani, Kiana and Benador, Ilan Y and Su, Shi and Gharakhanian, Raffi A and Stiles, Linsey and Trudeau, Kyle M and Cardamone, Maria and Enríquez‐Zarralanga, Violeta and Ritou, Eleni and Aprahamian, Tamar and Oliveira, Marcus F and Corkey, Barbara E and Perissi, Valentina and Liesa, Marc and Shirihai, Orian S
EMBO reports, ISSN 1469-221X, 07/2017, Volume 18, Issue 7, pp. 1123 - 1138
Mitofusin 2 | thermogenesis | brown adipose tissue | insulin resistance | obesity | Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Obesity | Thermogenesis - genetics | Insulin Resistance | Male | Mitochondria - metabolism | Animals | Energy Metabolism | GTP Phosphohydrolases - genetics | Mitochondrial Proteins - metabolism | Diet, High-Fat | Glycolysis | Female | GTP Phosphohydrolases - deficiency | Adipose Tissue, Brown - metabolism | Mice | Temperature requirements | Adipose tissue | Lipid peroxidation | Glucose | Gender | Males | Remodeling | High fat diet | Mitochondria | Oxidation resistance | Cold tolerance | Temperature effects | Oxidation | Fusion protein | Adipose tissue (brown) | Adaptation | Body temperature | Metabolism | Insulin | Glucose tolerance | Intolerance | Sensitivity | Thermogenesis | Low temperature resistance | Insulin resistance | Respiration | Females | ATP | Adenosine triphosphatase | Index Medicus | Membrane & Intracellular Transport
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6. Full Text Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations
by Chung, K.W and Kim, S.B and Park, K.D and Choi, K.G and Lee, J.H and Eun, H.W and Suh, J.S and Hwang, J.H and Kim, W.K and Seo, B.C and Kim, S.H and Son, I.H and Kim, S.M and Sunwoo, I.N and Choi, B.O
Brain (London, England : 1878), ISSN 0006-8950, 08/2006, Volume 129, Issue 8, pp. 2103 - 2118
HMSN VI | Mitofusin 2 (MFN2) | CMT2A | Charcot-Marie-Tooth disease | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy | Neurology | Biological and medical sciences | Medical sciences | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Nervous system (semeiology, syndromes) | GTP Phosphohydrolases | Optic Atrophies, Hereditary - genetics | Humans | Middle Aged | Molecular Sequence Data | Male | Mitochondrial Proteins - genetics | Charcot-Marie-Tooth Disease - genetics | Sural Nerve - ultrastructure | Adult | Female | Child | Disability Evaluation | Severity of Illness Index | Amino Acid Sequence | Membrane Proteins - genetics | Neural Conduction | Charcot-Marie-Tooth Disease - pathology | Microscopy, Electron | Magnetic Resonance Imaging | Phenotype | Pedigree | Adolescent | Age of Onset | Brain - pathology | Mutation | Index Medicus | Abridged Index Medicus
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7. Full Text MFN2 silencing promotes neural differentiation of embryonic stem cells via the Akt signaling pathway
by Yi, Siqi and Cui, Chenghao and Huang, Xiaotian and Yin, Xiaohui and Li, Yang and Wen, Jinhua and Luan, Qingxian
Journal of cellular physiology, ISSN 0021-9541, 02/2020, Volume 235, Issue 2, pp. 1051 - 1064
Akt signaling pathway | Mitofusin 2 | neural differentiation | embryonic stem cells (ESCs) | Physiology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Cell proliferation | Test procedures | Embryo cells | Cytology | AKT protein | Maintenance | Cell differentiation | Kinases | Gene expression | Cell morphology | Proteins | Signaling | Signal transduction | Mitochondria | Cell growth | Cell death | Morphology | Stem cells | Biomarkers | Differentiation | Mesendoderm | Pluripotency | Index Medicus
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8. Full Text A cohort study of MFN2 mutations and phenotypic spectrums in Charcot–Marie–Tooth disease 2A patients
by Choi, B.‐O and Nakhro, K and Park, H.J and Hyun, Y.S and Lee, J.H and Kanwal, S and Jung, S.‐C and Chung, K.W
Clinical genetics, ISSN 0009-9163, 06/2015, Volume 87, Issue 6, pp. 594 - 598
genotype–phenotype correlation | mitofusin 2 | Korean | exome | Charcot–Marie–Tooth disease 2A | Exome | Genotype-phenotype correlation | Charcot-Marie-Tooth disease 2A | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Exons | Humans | Middle Aged | Child, Preschool | Molecular Sequence Data | Infant | Mitochondrial Proteins - genetics | Charcot-Marie-Tooth Disease - genetics | GTP Phosphohydrolases - chemistry | Young Adult | DNA Mutational Analysis | Adult | Child | Korea | Severity of Illness Index | Amino Acid Sequence | Genetic Association Studies | Genotype | Phenotype | GTP Phosphohydrolases - genetics | Adolescent | Age of Onset | Alleles | Mitochondrial Proteins - chemistry | Family | Mutation | Charcot-Marie-Tooth Disease - diagnosis | Amino Acid Substitution | Cohort Studies | Charcot-Marie-Tooth disease | Analysis | Genetic aspects | Genotype & phenotype | Genetic disorders | Neurological disorders | Index Medicus
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9. Full Text A novel homozygous MFN2 mutation associated with severe and atypical CMT2 phenotype
by Iapadre, Giulia and Morana, Giovanni and Vari, Maria Stella and Pinto, Francesca and Lanteri, Paola and Tessa, Alessandra and Santorelli, Filippo Maria and Striano, Pasquale and Verrotti, Alberto
European journal of paediatric neurology, ISSN 1090-3798, 05/2018, Volume 22, Issue 3, pp. 563 - 567
MFN2 | Mitofusin 2 | Charcot-Marie-Tooth | Neuropathy | CMT2 | Homozygous mutation | Pediatrics | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Medicine, Experimental | Medical research | Ophthalmology | Index Medicus
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10. Full Text Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
by Rocha, Nuno and Bulger, David A and Frontini, Andrea and Titheradge, Hannah and Gribsholt, Sigrid Bjerge and Knox, Rachel and Page, Matthew and Harris, Julie and Payne, Felicity and Adams, Claire and Sleigh, Alison and Crawford, John and Gjesing, Anette Prior and Bork-Jensen, Jette and Pedersen, Oluf and Barroso, Inês and Hansen, Torben and Cox, Helen and Reilly, Mary and Rossor, Alex and Brown, Rebecca J and Taylor, Simeon I and McHale, Duncan and Armstrong, Martin and Oral, Elif A and Saudek, Vladimir and O’Rahilly, Stephen and Maher, Eamonn R and Richelsen, Bjørn and Savage, David B and Semple, Robert K
eLife, ISSN 2050-084X, 04/2017, Volume 6
Biology | Life Sciences & Biomedicine - Other Topics | Life Sciences & Biomedicine | Science & Technology | GTP Phosphohydrolases - metabolism | Hyperplasia - physiopathology | GTP Phosphohydrolases - genetics | Mitochondrial Proteins - metabolism | Humans | Adipose Tissue - physiopathology | Human Body | Leptin - biosynthesis | Mitochondria - metabolism | Mitochondrial Proteins - genetics | Mutation | Adipose tissue | Transcription | Hyperplasia | Cytology | Phagosomes | Adipocytes | Neuropathy | Peripheral neuropathy | Mitochondria | Fibroblasts | Age | Medical research | Membrane fusion | Neuromuscular diseases | Liver diseases | Internal medicine | Protein biosynthesis | Gene expression | Medicine | Hospitals | Cell death | Leptin | Cristae | Lipodystrophy | Skin | Diabetes | Clinical medicine | Metabolic disorders | Endocrinology | Index Medicus
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