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10.15252/emmm.201505040 http://scihub22266oqcxt.onion/10.15252/emmm.201505040 C4604682!4604682 !26194912     free     free     free Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 247.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 247.2 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\26194912 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       EMBO+Mol+Med 2015 ; 7 (10 ): 1257-66 Nephropedia Template TP {{tp|p=26194912 |t=2015. Mitochondrial diseases caused by toxic compound accumulation: from etiopathology to therapeutic approaches |pdf=|usr=}}{{26194912 }} gab.com Text Mitochondrial diseases caused by toxic compound accumulation: from etiopathology to therapeutic approaches JO: EMBO Mol Med http://www.kidney.de/pget.php?&tw=1&pmid=26194912 #FOAvip Mitochondrial disorders are a group of highly invalidating human conditions for which effective treatment is currently unavailable and characterized by faulty energy supply due to defective oxidative phosphorylation (OXPHOS). Given the complexity of mitochondrial genetics and biochemistry, mitochondrial inherited diseases may present with a vast range of symptoms, organ involvement, severity, age of onset, and outcome. Despite the wide spectrum of clinical signs and biochemical underpinnings of this group of dis-orders, some common traits can be identified, based on both pathogenic mechanisms and potential therapeutic approaches. Here, we will review two peculiar mitochondrial disorders, ethylmalonic encephalopathy (EE) and mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), caused by mutations in the ETHE1 and TYMP nuclear genes, respectively. ETHE1 encodes for a mitochondrial enzyme involved in sulfide detoxification and TYMP for a cytosolic enzyme involved in the thymidine/deoxyuridine catabolic pathway. We will discuss these two clinical entities as a paradigm of mitochondrial diseases caused by the accumulation of compounds normally present in traces, which exerts a toxic and inhibitory effect on the OXPHOS system. Twit Text FOAVip Mitochondrial diseases caused by toxic compound accumulation: from etiopathology to therapeutic approaches ????EMBO Mol Med http://www.kidney.de/pget.php?&tw=1&pmid=26194912 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=26194912 #FOAvip English Wikipedia <ref>{{Cite pmid|26194912 }}</ref> Mitochondrial diseases caused by toxic compound accumulation: from etiopathology to therapeutic approaches #MMPMID26194912 Di Meo I ; Lamperti C ; Tiranti V EMBO Mol Med 2015[Oct]; 7 (10 ): 1257-66 PMID26194912 show ga Mitochondrial disorders are a group of highly invalidating human conditions for which effective treatment is currently unavailable and characterized by faulty energy supply due to defective oxidative phosphorylation (OXPHOS). Given the complexity of mitochondrial genetics and biochemistry, mitochondrial inherited diseases may present with a vast range of symptoms, organ involvement, severity, age of onset, and outcome. Despite the wide spectrum of clinical signs and biochemical underpinnings of this group of dis-orders, some common traits can be identified, based on both pathogenic mechanisms and potential therapeutic approaches. Here, we will review two peculiar mitochondrial disorders, ethylmalonic encephalopathy (EE) and mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), caused by mutations in the ETHE1 and TYMP nuclear genes, respectively. ETHE1 encodes for a mitochondrial enzyme involved in sulfide detoxification and TYMP for a cytosolic enzyme involved in the thymidine/deoxyuridine catabolic pathway. We will discuss these two clinical entities as a paradigm of mitochondrial diseases caused by the accumulation of compounds normally present in traces, which exerts a toxic and inhibitory effect on the OXPHOS system. |*Brain Diseases, Metabolic, Inborn/genetics/physiopathology/therapy [MESH] |*Intestinal Pseudo-Obstruction/genetics/physiopathology/therapy [MESH] |*Mitochondrial Diseases/etiology/physiopathology/therapy [MESH] |*Mitochondrial Encephalomyopathies/genetics/physiopathology/therapy [MESH] |*Mutation [MESH] |*Purpura/genetics/physiopathology/therapy [MESH] |Humans [MESH] |Mitochondrial Proteins/*genetics [MESH] |Muscular Dystrophy, Oculopharyngeal [MESH] |Nucleocytoplasmic Transport Proteins/*genetics [MESH] |Ophthalmoplegia/congenital [MESH]Mitochondrial diseases caused by toxic compound accumulation: from eti(epmc).pdf DeepDyve Pubget Overpricing