Výsledky vyhledávání - "lysosomal alpha-galactosidase"

Akademický článek

In Silico Analysis of Missense Mutations as a First Step in Functional Studies: Examples from Two Sphingolipidoses

Autor: Ana Joana Duarte, Diogo Ribeiro, Luciana Moreira, Olga Amaral

Publikováno v: International Journal of Molecular Sciences, Vol 19, Iss 11, p 3409 (2018)

In order to delineate a better approach to functional studies, we have selected 23 missense mutations distributed in different domains of two lysosomal enzymes, to be studied by in silico analysis. In silico analysis of mutations relies on computatio

Externí odkaz: https://doaj.org/article/6ded04b575dc48deb3bd5f91fe1f133b

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In Silico Analysis of Missense Mutations as a First Step in Functional Studies: Examples from Two Sphingolipidoses

Autor: Olga Amaral, Ana Joana Duarte, Diogo Ribeiro, Luciana Moreira

Publikováno v: International Journal of Molecular Sciences, Vol 19, Iss 11, p 3409 (2018)
International Journal of Molecular Sciences

Free PMC Article: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6275066/ Note: Where it reads BBB-BMD/6301, should be PTDC/BIM-MEC/4762/2014. Erro de edição, tendo sido solicitado correção. In order to delineate a better approach to functional stu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89e2003b20b6c9d5db440464ba9f380a
https://www.mdpi.com/1422-0067/19/11/3409

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Akademický článek

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Identification of an Allosteric Binding Site on Human Lysosomal Alpha-Galactosidase Opens the Way to New Pharmacological Chaperones for Fabry Disease

Autor: Horacio Pérez-Sánchez, Ludovica Liguori, Rosita Del Prete, Jan Lukas, Valentina Citro, Giuseppina Andreotti, Maria Vittoria Cubellis, Chiara Cimmaruta, Helena den-Haan, Jorge Peña-García

Publikováno v: PloS one (2016).
info:cnr-pdr/source/autori:Citro, Valentina; Pena-Garcia, Jorge; Den-Haan, Helena; Perez-Sanchez, Horacio; Del Prete, Rosita; Liguori, Ludovica; Cimmaruta, Chiara; Lukas, Jan; Cubellis, Maria Vittoria; Andreotti, Giuseppina/titolo:Identification of an Allosteric Binding Site on Human Lysosomal Alpha-Galactosidase Opens the Way to New Pharmacological Chaperones for Fabry Disease/doi:/rivista:PloS one/anno:2016/pagina_da:/pagina_a:/intervallo_pagine:/volume
PLoS ONE
PLoS ONE, Vol 11, Iss 10, p e0165463 (2016)
RIUCAM. Repositorio Institucional de la Universidad Católica San Antonio de Murcia
instname

Personalized therapies are required for Fabry disease due to its large phenotypic spectrum and numerous different genotypes. In principle, missense mutations that do not affect the active site could be rescued with pharmacological chaperones. At pres

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1636ea955b0e11ef83abbc91a7f78b87
http://www.cnr.it/prodotto/i/360228

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Akademický článek

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Taming molecular flexibility to tackle rare diseases

Autor: Maria Vittoria Cubellis, Marc Baaden, Giuseppina Andreotti

Publikováno v: Biochimie
Biochimie, Elsevier, 2015, 113, pp.54-8
Biochimie (Online) (2015). doi:10.1016/j.biochi.2015.03.018
info:cnr-pdr/source/autori:M.V. Cubellis, M. Baaden and G. Andreotti/titolo:Taming molecular flexibility to tackle rare diseases/doi:10.1016%2Fj.biochi.2015.03.018/rivista:Biochimie (Online)/anno:2015/pagina_da:/pagina_a:/intervallo_pagine:/volume

Many mutations responsible of Fabry disease destabilize lysosomal alpha-galactosidase, but retain the enzymatic activity. These mutations are associated to a milder phenotype and are potentially curable with a pharmacological therapy either with chap

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89ba167fcffbaada6dd73faa69e9efaa
https://pubmed.ncbi.nlm.nih.gov/25841341

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