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10.1038/srep36313 http://scihub22266oqcxt.onion/10.1038/srep36313 C5095641!5095641 !27812026     free     free     free Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 267.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 267.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 267.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 267.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 267.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\27812026 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Sci+Rep 2016 ; 6 (ä): 36313 Nephropedia Template TP {{tp|p=27812026 |t=2016. Identification of G8969 A in mitochondrial ATP6 gene that severely compromises ATP synthase function in a patient with IgA nephropathy |pdf=|usr=}}{{27812026 }} gab.com Text Identification of G8969 A in mitochondrial ATP6 gene that severely compromises ATP synthase function in a patient with IgA nephropathy JO: Sci Rep http://www.kidney.de/pget.php?&tw=1&pmid=27812026 #FOAvip Here we elucidated the pathogenesis of a 14-year-old Chinese female who initially developed an isolated nephropathy followed by a complex clinical presentation with brain and muscle problems, which indicated that the disease process was possibly due to a mitochondrial dysfunction. Careful evaluation of renal biopsy samples revealed a decreased staining of cells induced by COX and NADH dehydrogenase activities, and a strong fragmentation of the mitochondrial network. These anomalies were due to the presence of a mutation in the mitochondrial ATP6 gene, G8969>A. This mutation leads to replacement of a highly conserved serine residue at position 148 of the a-subunit of ATP synthase. Increasing the mutation load in cybrid cell lines was paralleled by the appearance of abnormal mitochondrial morphologies, diminished respiration and enhanced production of reactive oxygen species. An equivalent of the G8969>A mutation in yeast had dramatic consequences on ATP synthase, with a block in proton translocation. The mutation was particularly abundant (89%) in the kidney compared to blood and urine, which is likely the reason why this organ was affected first. Based on these findings, we suggest that nephrologists should pay more attention to the possibility of a mitochondrial dysfunction when evaluating patients suffering from kidney problems. Twit Text FOAVip Identification of G8969 A in mitochondrial ATP6 gene that severely compromises ATP synthase function in a patient with IgA nephropathy ????Sci Rep http://www.kidney.de/pget.php?&tw=1&pmid=27812026 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=27812026 #FOAvip English Wikipedia <ref>{{Cite pmid|27812026 }}</ref> Identification of G8969 A in mitochondrial ATP6 gene that severely compromises ATP synthase function in a patient with IgA nephropathy #MMPMID27812026 Wen S ; Niedzwiecka K ; Zhao W ; Xu S ; Liang S ; Zhu X ; Xie H ; Tribouillard-Tanvier D ; Giraud MF ; Zeng C ; Dautant A ; Kucharczyk R ; Liu Z ; di Rago JP ; Chen H Sci Rep 2016[Nov]; 6 (ä): 36313 PMID27812026 show ga Here we elucidated the pathogenesis of a 14-year-old Chinese female who initially developed an isolated nephropathy followed by a complex clinical presentation with brain and muscle problems, which indicated that the disease process was possibly due to a mitochondrial dysfunction. Careful evaluation of renal biopsy samples revealed a decreased staining of cells induced by COX and NADH dehydrogenase activities, and a strong fragmentation of the mitochondrial network. These anomalies were due to the presence of a mutation in the mitochondrial ATP6 gene, G8969>A. This mutation leads to replacement of a highly conserved serine residue at position 148 of the a-subunit of ATP synthase. Increasing the mutation load in cybrid cell lines was paralleled by the appearance of abnormal mitochondrial morphologies, diminished respiration and enhanced production of reactive oxygen species. An equivalent of the G8969>A mutation in yeast had dramatic consequences on ATP synthase, with a block in proton translocation. The mutation was particularly abundant (89%) in the kidney compared to blood and urine, which is likely the reason why this organ was affected first. Based on these findings, we suggest that nephrologists should pay more attention to the possibility of a mitochondrial dysfunction when evaluating patients suffering from kidney problems. |*Polymorphism, Single Nucleotide [MESH] |Adolescent [MESH] |Cell Line [MESH] |Female [MESH] |Genetic Predisposition to Disease [MESH] |Glomerulonephritis, IGA/*genetics/metabolism/pathology [MESH] |Humans [MESH] |Kidney/metabolism/pathology [MESH] |Mitochondria/genetics/metabolism [MESH] |Mitochondrial Proton-Translocating ATPases/chemistry/*genetics/*metabolism [MESH] |Models, Molecular [MESH] |Saccharomyces cerevisiae Proteins/genetics [MESH]Identification of G8969 A in mitochondrial ATP6 gene that severely com(epmc).pdf DeepDyve Pubget Overpricing