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Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
MFN2 encodes mitofusin 2, a membrane-bound mediator of mitochondrial membrane fusion and inter-organelle communication. MFN2 mutations cause axonal neuropathy, with associated lipodystrophy only occasionally noted, however homozygosity for the p.Arg707Trp mutation was recently associated with upper...
Autores principales: | Rocha, Nuno, Bulger, David A, Frontini, Andrea, Titheradge, Hannah, Gribsholt, Sigrid Bjerge, Knox, Rachel, Page, Matthew, Harris, Julie, Payne, Felicity, Adams, Claire, Sleigh, Alison, Crawford, John, Gjesing, Anette Prior, Bork-Jensen, Jette, Pedersen, Oluf, Barroso, Inês, Hansen, Torben, Cox, Helen, Reilly, Mary, Rossor, Alex, Brown, Rebecca J, Taylor, Simeon I, McHale, Duncan, Armstrong, Martin, Oral, Elif A, Saudek, Vladimir, O’Rahilly, Stephen, Maher, Eamonn R, Richelsen, Bjørn, Savage, David B, Semple, Robert K |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
eLife Sciences Publications, Ltd
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5422073/ https://www.ncbi.nlm.nih.gov/pubmed/28414270 http://dx.doi.org/10.7554/eLife.23813 |
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