Use my Search Websuite to scan PubMed, PMCentral, Journal Hosts and Journal Archives, FullText. Kick-your-searchterm to multiple Engines kick-your-query now !>

A dictionary by aggregated review articles of nephrology, medicine and the life sciences Your one-stop-run pathway from word to the immediate pdf of peer-reviewed on-topic knowledge.

10.1007/s00441-014-1922-9 http://scihub22266oqcxt.onion/10.1007/s00441-014-1922-9 24992926!4186980!24992926     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=24992926&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 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 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Cell+Tissue+Res 2014 ; 358 (1): 217-27 Nephropedia Template TP {{tp|p=24992926|t=2014. Depletion of globosides and isoglobosides fully reverts the morphologic phenotype of Fabry disease |pdf=|usr=}}{{24992926}} gab.com Text Depletion of globosides and isoglobosides fully reverts the morphologic phenotype of Fabry disease JO: Cell Tissue Res http://www.kidney.de/pget.php?&tw=1&pmid=24992926 #FOAvip Fabry disease is a monogenic X-linked lysosomal storage disease caused by alpha-galactosidase A (alphaGalA) deficiency. Enzyme replacement therapy through administration of the missing alphaGalA is currently the only accepted therapeutic option. However, this treatment is connected to high costs, has ill-defined indication criteria and its efficacy is controversially discussed. Our aim was to explore the possibility of a novel targeted substrate reduction therapy for Fabry disease. Owing to the fact that alphaGalA-deficient humans and mice accumulate the same glycosphingolipids (i.e. globosides, galabiosylceramide and isoglobosides), alphaGalA-deficient mice were crossed with mice deficient in enzymes synthesizing these classes of glycosphingolipids (i.e. globotrihexosylceramide and isoglobotrihexosylceramide synthase, respectively). Functional heart and kidney tests were performed together with an extensive biochemical analysis of urine and serum in aged mice. Lysosomal storage was assessed by thin layer chromatography and electron microscopy. We showed that depletion of globosides was sufficient to fully abolish the storage of glycosphingolipids in heart, kidney and liver and was paralleled by a complete restoration of lysosomal morphology in these organs. In contrast, in dorsal root ganglia, a depletion of both globosides and isoglobosides was necessary to fully counteract the lysosomal storage. The deficiency in globosides and/or isoglobosides did not cause any adverse effects. We conclude that substrate reduction therapy through inhibition of the synthesis of globosides and isoglobosides represents a valuable therapeutic option for Fabry disease, all the more as globosides and isoglobosides seem to be dispensable. Twit Text FOAVip Depletion of globosides and isoglobosides fully reverts the morphologic phenotype of Fabry disease ????Cell Tissue Res http://www.kidney.de/pget.php?&tw=1&pmid=24992926 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=24992926 #FOAvip English Wikipedia <ref>{{Cite pmid|24992926}}</ref> Depletion of globosides and isoglobosides fully reverts the morphologic phenotype of Fabry disease #MMPMID24992926 Porubsky S; Jennemann R; Lehmann L; Grone HJ Cell Tissue Res 2014[Oct]; 358 (1): 217-27 PMID24992926show ga Fabry disease is a monogenic X-linked lysosomal storage disease caused by alpha-galactosidase A (alphaGalA) deficiency. Enzyme replacement therapy through administration of the missing alphaGalA is currently the only accepted therapeutic option. However, this treatment is connected to high costs, has ill-defined indication criteria and its efficacy is controversially discussed. Our aim was to explore the possibility of a novel targeted substrate reduction therapy for Fabry disease. Owing to the fact that alphaGalA-deficient humans and mice accumulate the same glycosphingolipids (i.e. globosides, galabiosylceramide and isoglobosides), alphaGalA-deficient mice were crossed with mice deficient in enzymes synthesizing these classes of glycosphingolipids (i.e. globotrihexosylceramide and isoglobotrihexosylceramide synthase, respectively). Functional heart and kidney tests were performed together with an extensive biochemical analysis of urine and serum in aged mice. Lysosomal storage was assessed by thin layer chromatography and electron microscopy. We showed that depletion of globosides was sufficient to fully abolish the storage of glycosphingolipids in heart, kidney and liver and was paralleled by a complete restoration of lysosomal morphology in these organs. In contrast, in dorsal root ganglia, a depletion of both globosides and isoglobosides was necessary to fully counteract the lysosomal storage. The deficiency in globosides and/or isoglobosides did not cause any adverse effects. We conclude that substrate reduction therapy through inhibition of the synthesis of globosides and isoglobosides represents a valuable therapeutic option for Fabry disease, all the more as globosides and isoglobosides seem to be dispensable. |*Globosides[MESH] |Animals[MESH] |Fabry Disease/genetics/metabolism/pathology/*therapy[MESH] |Ganglia, Spinal/*metabolism/pathology[MESH] |Humans[MESH] |Kidney/*metabolism/pathology[MESH] |Liver/*metabolism/pathology[MESH] |Lysosomes/metabolism/pathology[MESH] |Mice[MESH] |Myocardium/*metabolism/pathology[MESH]Depletion of globosides and isoglobosides fully reverts the morphologi(epmc).pdf DeepDyve Pubget Overpricing