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10.1517/21678707.2015.1025746 http://scihub22266oqcxt.onion/10.1517/21678707.2015.1025746 C4777310!4777310!26949572     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       Expert+Opin+Orphan+Drugs 2015 ; 3 (5): 491-504 Nephropedia Template TP {{tp|p=26949572|t=2015. Pathogenesis, Emerging therapeutic targets and Treatment in Sialidosis |pdf=|usr=}}{{26949572}} gab.com Text Pathogenesis, Emerging therapeutic targets and Treatment in Sialidosis JO: Expert Opin Orphan Drugs http://www.kidney.de/pget.php?&tw=1&pmid=26949572 #FOAvip Introduction: Sialidosis is a neurosomatic, lysosomal storage disease (LSD) caused by mutations in the NEU1 gene, encoding the lysosomal sialidase NEU1. Deficient enzyme activity results in impaired processing/degradation of sialo-glycoproteins, and accumulation of oversialylated metabolites. Sialidosis is considered an orphan disorder for which no therapy is currently available. Areas covered: The review describes the clinical forms of sialidosis and the NEU1 mutations so far identified; NEU1 requirement to complex with the protective protein/cathepsin A for stability and activation; and the pathogenic effects of NEU1 deficiency. Studies of the molecular mechanisms of pathogenesis in animal models uncovered basic cellular pathways downstream of NEU1 and its substrates, which may be implicated in more common adult (neurodegenerative) diseases. The development of a Phase I/II clinical trial for patients with galactosialidosis may prove suitable for sialidosis patients with the attenuated form of the disease. Expert opinion: Recently, there has been a renewed interest in the development of therapies for orphan LSDs, like sialidosis. Given the small number of potentially eligible patients, the way to treat sialidosis would be through the coordinated effort of clinical centers, which provide diagnosis and care for these patients, and the basic research labs that work towards understanding the disease pathogenesis. Twit Text FOAVip Pathogenesis, Emerging therapeutic targets and Treatment in Sialidosis ????Expert Opin Orphan Drugs http://www.kidney.de/pget.php?&tw=1&pmid=26949572 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=26949572 #FOAvip English Wikipedia <ref>{{Cite pmid|26949572}}</ref> Pathogenesis, Emerging therapeutic targets and Treatment in Sialidosis #MMPMID26949572 d?Azzo A; Machado E; Annunziata I Expert Opin Orphan Drugs 2015[]; 3 (5): 491-504 PMID26949572show ga Introduction: Sialidosis is a neurosomatic, lysosomal storage disease (LSD) caused by mutations in the NEU1 gene, encoding the lysosomal sialidase NEU1. Deficient enzyme activity results in impaired processing/degradation of sialo-glycoproteins, and accumulation of oversialylated metabolites. Sialidosis is considered an orphan disorder for which no therapy is currently available. Areas covered: The review describes the clinical forms of sialidosis and the NEU1 mutations so far identified; NEU1 requirement to complex with the protective protein/cathepsin A for stability and activation; and the pathogenic effects of NEU1 deficiency. Studies of the molecular mechanisms of pathogenesis in animal models uncovered basic cellular pathways downstream of NEU1 and its substrates, which may be implicated in more common adult (neurodegenerative) diseases. The development of a Phase I/II clinical trial for patients with galactosialidosis may prove suitable for sialidosis patients with the attenuated form of the disease. Expert opinion: Recently, there has been a renewed interest in the development of therapies for orphan LSDs, like sialidosis. Given the small number of potentially eligible patients, the way to treat sialidosis would be through the coordinated effort of clinical centers, which provide diagnosis and care for these patients, and the basic research labs that work towards understanding the disease pathogenesis. äPathogenesis, Emerging therapeutic targets and Treatment in Sialidosis(epmc).pdf DeepDyve Pubget Overpricing