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10.1101/cshperspect.a011395 http://scihub22266oqcxt.onion/10.1101/cshperspect.a011395 C3683902!3683902!23545419     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=23545419&cmd=llinks): Failed to open stream: HTTP request failed! HTTP/1.1 429 Too Many Requests in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 215 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Cold+Spring+Harb+Perspect+Biol 2013 ; 5 (4): ä Nephropedia Template TP {{tp|p=23545419|t=2013. Clinical and Molecular Features of POLG-Related Mitochondrial Disease |pdf=|usr=}}{{23545419}} gab.com Text Clinical and Molecular Features of POLG-Related Mitochondrial Disease JO: Cold Spring Harb Perspect Biol http://www.kidney.de/pget.php?&tw=1&pmid=23545419 #FOAvip The inability to replicate mitochondrial genomes (mtDNA) by the mitochondrial DNA polymerase (pol ?) leads to a subset of mitochondrial diseases. Many mutations in POLG, the gene that encodes pol ?, have been associated with mitochondrial diseases such as myocerebrohepatopathy spectrum (MCHS) disorders, Alpers-Huttenlocher syndrome, myoclonic epilepsy myopathy sensory ataxia (MEMSA), ataxia neuropathy spectrum (ANS), and progressive external ophthalmoplegia (PEO). This chapter explores five important topics in POLG-related disease: (1) clinical symptoms that identify and distinguish POLG-related diseases, (2) molecular characterization of defects in polymerase activity by POLG disease variants, (3) the importance of holoenzyme formation in disease presentation, (4) the role of pol ? exonuclease activity and mutagenesis in disease and aging, and (5) novel approaches to therapy and avoidance of toxicity based on primary research in pol ? replication. Twit Text FOAVip Clinical and Molecular Features of POLG-Related Mitochondrial Disease ????Cold Spring Harb Perspect Biol http://www.kidney.de/pget.php?&tw=1&pmid=23545419 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=23545419 #FOAvip English Wikipedia <ref>{{Cite pmid|23545419}}</ref> Clinical and Molecular Features of POLG-Related Mitochondrial Disease #MMPMID23545419 Stumpf JD; Saneto RP; Copeland WC Cold Spring Harb Perspect Biol 2013[Apr]; 5 (4): ä PMID23545419show ga The inability to replicate mitochondrial genomes (mtDNA) by the mitochondrial DNA polymerase (pol ?) leads to a subset of mitochondrial diseases. Many mutations in POLG, the gene that encodes pol ?, have been associated with mitochondrial diseases such as myocerebrohepatopathy spectrum (MCHS) disorders, Alpers-Huttenlocher syndrome, myoclonic epilepsy myopathy sensory ataxia (MEMSA), ataxia neuropathy spectrum (ANS), and progressive external ophthalmoplegia (PEO). This chapter explores five important topics in POLG-related disease: (1) clinical symptoms that identify and distinguish POLG-related diseases, (2) molecular characterization of defects in polymerase activity by POLG disease variants, (3) the importance of holoenzyme formation in disease presentation, (4) the role of pol ? exonuclease activity and mutagenesis in disease and aging, and (5) novel approaches to therapy and avoidance of toxicity based on primary research in pol ? replication. äClinical and Molecular Features of POLG-Related Mitochondrial Disease (epmc).pdf DeepDyve Pubget Overpricing