Mitofusin gain and loss of function drive pathogenesis in Drosophila models of CMT2A neuropathy

Charcot–Marie–Tooth disease type 2A (CMT2A) is caused by dominant alleles of the mitochondrial pro‐fusion factor Mitofusin 2 (MFN2). To address the consequences of these mutations on mitofusin activity and neuronal function, we generate Drosophila models expressing in neurons the two most frequent s...

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Veröffentlicht in:	EMBO reports 2018-08, Vol.19 (8), p.n/a
Hauptverfasser:	El Fissi, Najla, Rojo, Manuel, Aouane, Aїcha, Karatas, Esra, Poliacikova, Gabriela, David, Claudine, Royet, Julien, Rival, Thomas
Format:	Artikel
Sprache:	eng
Schlagworte:	Agglomeration Alleles Amino Acid Sequence Animals Charcot-Marie-Tooth disease Charcot-Marie-Tooth Disease - genetics Charcot-Marie-Tooth Disease - pathology Charcot-Marie-Tooth Disease - physiopathology CMT2A Defects Disease Models, Animal Drosophila Drosophila melanogaster - metabolism Drosophila melanogaster - ultrastructure Drosophila Proteins - chemistry Drosophila Proteins - genetics Drosophila Proteins - metabolism EMBO20 EMBO21 EMBO27 Gain of Function Mutation - genetics Guanosine triphosphatases Guanosine triphosphate Humans Insects Life Sciences Loss of Function Mutation - genetics Membrane Proteins - chemistry Membrane Proteins - genetics Membrane Proteins - metabolism Metabolism MFN2 Mice Mitochondria Mitochondria - metabolism Mitochondria - ultrastructure Mitochondrial DNA Mitochondrial Dynamics mitochondrial fusion mitofusin Morphology Motor Activity Motor neurons Mutation Neuromuscular Junction - metabolism Neuromuscular junctions Neurons Neurons - metabolism Neurons - pathology Neurons - ultrastructure Neuropathy Oxidative metabolism Pathogenesis peripheral neuropathy
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