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10.1093/hmg/ddq414 http://scihub22266oqcxt.onion/10.1093/hmg/ddq414 C4560042!4560042 !20858599     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=20858599 &cmd=llinks): Failed to open stream: HTTP request failed! 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FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy |pdf=|usr=}}{{20858599 }} gab.com Text FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy JO: Hum Mol Genet http://www.kidney.de/pget.php?&tw=1&pmid=20858599 #FOAvip Complex I is the first and largest enzyme in the respiratory chain and is located in the inner mitochondrial membrane. Complex I deficiency is the most commonly reported mitochondrial disorder presenting in childhood, but the molecular basis of most cases remains elusive. We describe a patient with complex I deficiency caused by mutation of the molecular chaperone FOXRED1. A combined homozygosity mapping and bioinformatics approach in a consanguineous Iranian-Jewish pedigree led to the identification of a homozygous mutation in FOXRED1 in a child who presented with infantile-onset encephalomyopathy. Silencing of FOXRED1 in human fibroblasts resulted in reduced complex I steady-state levels and activity, while lentiviral-mediated FOXRED1 transgene expression rescued complex I deficiency in the patient fibroblasts. This FAD-dependent oxidoreductase, which has never previously been associated with human disease, is now shown to be a complex I-specific molecular chaperone. The discovery of the c.1054C>T; p.R352W mutation in the FOXRED1 gene is a further contribution towards resolving the complex puzzle of the genetic basis of human mitochondrial disease. Twit Text FOAVip FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy ????Hum Mol Genet http://www.kidney.de/pget.php?&tw=1&pmid=20858599 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=20858599 #FOAvip English Wikipedia <ref>{{Cite pmid|20858599 }}</ref> FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy #MMPMID20858599 Fassone E ; Duncan AJ ; Taanman JW ; Pagnamenta AT ; Sadowski MI ; Holand T ; Qasim W ; Rutland P ; Calvo SE ; Mootha VK ; Bitner-Glindzicz M ; Rahman S Hum Mol Genet 2010[Dec]; 19 (24 ): 4837-47 PMID20858599 show ga Complex I is the first and largest enzyme in the respiratory chain and is located in the inner mitochondrial membrane. Complex I deficiency is the most commonly reported mitochondrial disorder presenting in childhood, but the molecular basis of most cases remains elusive. We describe a patient with complex I deficiency caused by mutation of the molecular chaperone FOXRED1. A combined homozygosity mapping and bioinformatics approach in a consanguineous Iranian-Jewish pedigree led to the identification of a homozygous mutation in FOXRED1 in a child who presented with infantile-onset encephalomyopathy. Silencing of FOXRED1 in human fibroblasts resulted in reduced complex I steady-state levels and activity, while lentiviral-mediated FOXRED1 transgene expression rescued complex I deficiency in the patient fibroblasts. This FAD-dependent oxidoreductase, which has never previously been associated with human disease, is now shown to be a complex I-specific molecular chaperone. The discovery of the c.1054C>T; p.R352W mutation in the FOXRED1 gene is a further contribution towards resolving the complex puzzle of the genetic basis of human mitochondrial disease. |Amino Acid Sequence [MESH] |Base Sequence [MESH] |Child [MESH] |Child, Preschool [MESH] |Computational Biology [MESH] |DNA Mutational Analysis [MESH] |Electron Transport Complex I/*metabolism [MESH] |Flavin-Adenine Dinucleotide/*metabolism [MESH] |Gene Expression Regulation [MESH] |Gene Silencing [MESH] |Genetic Complementation Test [MESH] |Homozygote [MESH] |Humans [MESH] |Infant [MESH] |Lentivirus/genetics [MESH] |Male [MESH] |Mitochondria/metabolism [MESH] |Mitochondrial Encephalomyopathies/enzymology/epidemiology/genetics [MESH] |Models, Molecular [MESH] |Molecular Chaperones/chemistry/*genetics/metabolism [MESH] |Molecular Sequence Data [MESH] |Mutation/*genetics [MESH] |Protein Transport [MESH] |RNA, Messenger/genetics/metabolism [MESH]FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific m(epmc).pdf DeepDyve Pubget Overpricing