Results 121 to 130 of about 1,809,550 (296)

Fabry disease: clinical and genotypic aspects of three cases in first degree relatives [PDF]

, 2014
Fabry disease is an X-linked, lysosomal storage disease caused by the inherited deficiency of the enzyme α-galactosidase A. The diagnosis is usually late, with renal, cardiovascular and/or cerebral complications that reduce life expectancy ...
Badiz, Thais Cardoso De Mello Tucunduva, Enokihara, Milvia Maria Simoes E Silva, Porro, Adriana Maria, Silva, Leticia Bueno Nunes Da   +3 more
core   +2 more sources

Diagnóstico y tratamiento de la enfermedad de Fabry [PDF]

, 2017
El texto en español se encuentra disponibe en http://doi.org/10.1016/j.medcli.2016.09.047This work was supported by FIS PI13/00047, PI15/00298, CP14/00133, FEDER funds ISCIII-RETIC REDinREN RD12/0021 and RD16/0009, Sociedad Española de Nefrología ...
Ortiz, Alberto, Sánchez-Niño, María Dolores   +1 more
core   +2 more sources

Biomaterial design strategies for enhancing mitochondrial transplantation therapy

BMEMat, EarlyView.
Biomaterials to facilitate mitochondrial transplantation therapy: biomaterials as barriers to protect mitochondria from pathophysiological microenvironments, like osmotic stress caused by the excessive concentration of calcium ion, reactive oxygen species, and advanced glycation end products; biomaterials integrating with biochemical cues to improve ...
Shaoyang Kang, Yushan Zhang, Hang Li, Sirui Peng, Donghao Lyu, Chunxiao Zhou, Sheng Ding, Zujian Feng, Pingsheng Huang, Chuangnian Zhang, Hongjun Wang, Deling Kong, Weiwei Wang   +12 more
wiley   +1 more source

Stereochemical course of hydrolytic reaction catalyzed by alpha-galactosidase from cold adaptable marine bacterium of genus Pseudoalteromonas

Frontiers in Chemistry, 2014
The recombinant α-galactosidase of the marine bacterium (α-PsGal) was synthesized with the use of the plasmid 40Gal, consisting of plasmid pET-40b (+) (Novagen) and the gene corresponding to the open reading frame of the mature α-galactosidase of marine ...
Irina Yu Bakunina, Larissa A Balabanova, Vasiliy A Golotin, Lyubov V Slepchenko, Lyubov V Slepchenko, Vladimir V Isakov, Valeriy A Rasskazov   +6 more
doaj   +1 more source

IMOBILIZAÇÃO DA ENZIMA Î’-GALACTOSIDASE DE Aspergillus oryzae EM RESINAS DE TROCA IÔNICA

, 2012
Este trabalho apresenta como objetivo estudar o processo de imobilização da enzima β-galactosidase de Aspergillus oryzae por adsorção, utilizando como suporte resinas de troca iônica Duolite A-568, Duolite S-761, Dowex Marathon A, Dowex Marathon C e Amberlite 252 Na.
Santana, Larissa Nayhara Soares, Guidini, Carla Zanella, Ribeiro, Eloízio Júlio   +2 more
openaire   +1 more source

A β‐mannan utilization locus in Bacteroides ovatus involves a GH36 α‐galactosidase active on galactomannans

FEBS Letters, 2016
The Bacova_02091 gene in the β‐mannan utilization locus of Bacteroides ovatus encodes a family GH36 α‐galactosidase (BoGal36A), transcriptionally upregulated during growth on galactomannan.
Sumitha K. Reddy, Viktoria Bågenholm, Nicholas A. Pudlo, H. Bouraoui, N. Koropatkin, E. Martens, H. Stålbrand   +6 more
semanticscholar   +1 more source

Annona muricata (graviola): toxic or therapeutic [PDF]

, 2008
This paper examines annona muricata (graviola): toxic or ...
Gray, A.I., Hollinshead, J., Jones, L., Jones, P.W., Mohanty, S., Thomas, D., Watson, A.A., Watson, D.G.   +7 more
core  

Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients

Orphanet Journal of Rare Diseases, 2020
Background Fabry disease is a rare X-linked inherited disorder caused by deficiency of α-Galactosidase A. Hundreds of mutations and non-coding haplotypes in the GLA gene have been described; however, many are variants of unknown significance, prompting ...
Patrícia Varela, Gianna Mastroianni Kirsztajn, Fabiana L. Motta, Renan P. Martin, Lauro T. Turaça, Henrique L. F. Ferrer, Caio P. Gomes, Priscila Nicolicht, Maryana Mara Marins, Juliana G. Pessoa, Marion C. Braga, Vânia D’Almeida, Ana Maria Martins, João B. Pesquero   +13 more
doaj   +1 more source

Late diagnosis of Fabry disease caused by a de novo mutation in a patient with end stage renal disease. [PDF]

, 2015
BACKGROUND: We present the case of a white 35-year-old male with a diagnosis of Fabry disease and negative family history. CASE PRESENTATION: At the age of 31, he underwent a renal biopsy with a diagnosis of hypertension-induced nephroangiosclerosis.
Daniele, Aurora, Di Domenico, Carmela, Nigro, Ersilia, Pisani, Antonio, Riccio, Eleonora, Salvatore, Francesco   +5 more
core   +3 more sources

N‐Glycosyl Triazoline Glycomimetics via Huisgen Cycloaddition With an Electron‐Deficient Alkene and BF3‐Catalysed Triazoline Fragmentation to Aziridines

European Journal of Organic Chemistry, EarlyView.
Glycomimetics with triazoline and aziridine groups were synthesised via diastereoselective Huisgen cycloaddition from glycosyl azides. Density functional theory was applied to define the mechanism for BF3 promoted aziridine formation. Triazoline and aziridine derivatives were synthesised by diastereo‐ and regioselective Huisgen cycloaddition of 2,3,4,6‐
Aaron McCormack, Ashis Dhara, Lamis Alaa Eldin Refat, Mikael Bols, Paul V. Murphy   +4 more
wiley   +1 more source