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10.1152/ajpcell.00059.2021 http://scihub22266oqcxt.onion/10.1152/ajpcell.00059.2021 34232746!8424680!34232746     free     free     free 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 Deprecated: Implicit conversion from float 211.6 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\34232746.jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Am+J+Physiol+Cell+Physiol 2021 ; 321 (2): C394-C408 Nephropedia Template TP {{tp|p=34232746|t=2021. Diseases caused by mutations in the Na(+)/K(+) pump alpha1 gene ATP1A1 |pdf=|usr=}}{{34232746}} gab.com Text Diseases caused by mutations in the Na(+)/K(+) pump alpha1 gene ATP1A1 JO: Am J Physiol Cell Physiol http://www.kidney.de/pget.php?&tw=1&pmid=34232746 #FOAvip Human cell survival requires function of the Na(+)/K(+) pump; the heteromeric protein that hydrolyzes ATP to extrude Na(+) and import K(+) across the plasmalemma, thereby building and maintaining these ions' electrochemical gradients. Numerous dominant diseases caused by mutations in genes encoding for Na(+)/K(+) pump catalytic (alpha) subunit isoforms highlight the importance of this protein. Here, we review literature describing disorders caused by missense mutations in ATP1A1, the gene encoding the ubiquitously expressed alpha1 isoform of the Na(+)/K(+) pump. These various maladies include primary aldosteronism with secondary hypertension, an endocrine syndrome, Charcot-Marie-Tooth disease, a peripheral neuropathy, complex spastic paraplegia, another neuromuscular disorder, as well as hypomagnesemia accompanied by seizures and cognitive delay, a condition affecting the renal and central nervous systems. This article focuses on observed commonalities among these mutations' functional effects, as well as on the special characteristics that enable each particular mutation to exclusively affect a certain system, without affecting others. In this respect, it is clear how somatic mutations localized to adrenal adenomas increase aldosterone production without compromising other systems. However, it remains largely unknown how and why some but not all de novo germline or familial mutations (where the mutant must be expressed in numerous tissues) produce a specific disease and not the other diseases. We propose hypotheses to explain this observation and the approaches that we think will drive future research on these debilitating disorders to develop novel patient-specific treatments by combining the use of heterologous protein-expression systems, patient-derived pluripotent cells, and gene-edited cell and mouse models. Twit Text FOAVip Diseases caused by mutations in the Na(+)/K(+) pump alpha1 gene ATP1A1 ????Am J Physiol Cell Physiol http://www.kidney.de/pget.php?&tw=1&pmid=34232746 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=34232746 #FOAvip English Wikipedia <ref>{{Cite pmid|34232746}}</ref> Diseases caused by mutations in the Na(+)/K(+) pump alpha1 gene ATP1A1 #MMPMID34232746 Biondo ED; Spontarelli K; Ababioh G; Mendez L; Artigas P Am J Physiol Cell Physiol 2021[Aug]; 321 (2): C394-C408 PMID34232746show ga Human cell survival requires function of the Na(+)/K(+) pump; the heteromeric protein that hydrolyzes ATP to extrude Na(+) and import K(+) across the plasmalemma, thereby building and maintaining these ions' electrochemical gradients. Numerous dominant diseases caused by mutations in genes encoding for Na(+)/K(+) pump catalytic (alpha) subunit isoforms highlight the importance of this protein. Here, we review literature describing disorders caused by missense mutations in ATP1A1, the gene encoding the ubiquitously expressed alpha1 isoform of the Na(+)/K(+) pump. These various maladies include primary aldosteronism with secondary hypertension, an endocrine syndrome, Charcot-Marie-Tooth disease, a peripheral neuropathy, complex spastic paraplegia, another neuromuscular disorder, as well as hypomagnesemia accompanied by seizures and cognitive delay, a condition affecting the renal and central nervous systems. This article focuses on observed commonalities among these mutations' functional effects, as well as on the special characteristics that enable each particular mutation to exclusively affect a certain system, without affecting others. In this respect, it is clear how somatic mutations localized to adrenal adenomas increase aldosterone production without compromising other systems. However, it remains largely unknown how and why some but not all de novo germline or familial mutations (where the mutant must be expressed in numerous tissues) produce a specific disease and not the other diseases. We propose hypotheses to explain this observation and the approaches that we think will drive future research on these debilitating disorders to develop novel patient-specific treatments by combining the use of heterologous protein-expression systems, patient-derived pluripotent cells, and gene-edited cell and mouse models. |Aldosterone/*metabolism[MESH] |Animals[MESH] |Disease/genetics[MESH] |Humans[MESH] |Magnesium/metabolism[MESH] |Mutation/*genetics[MESH] |Sodium-Potassium-Exchanging ATPase/*genetics/metabolism[MESH]Diseases caused by mutations in the Na(+)/K(+) pump alpha1 gene ATP1A1(epmc).pdf DeepDyve Pubget Overpricing