Results 41 to 50 of about 2,063 (198)

Unraveling the Drivers and Consequences of Gut Microbiota Disruption in Fabry Disease: The lyso-Gb3 Link [PDF]

Future Microbiology, 2020
Fabry disease is characterized by lyso-Gb3 accumulation, gastrointestinal symptoms and severe nephropathy and myocardiopathy. Clinically relevant lyso-Gb3 concentrations disrupt the gut microbiota homeostasis. Biofilm formation by enteric bacteria is modulated, favoring Bacteroides fragilis growth. In complex gut bacterial communities, lyso-Gb3 reduced
Sánchez-Niño, María Dolores, Aguilera-Correa, John-Jairo, Politei, Juan, Esteban, Jaime, Requena, Teresa, Ortiz, Alberto   +5 more
openaire   +3 more sources

Prevalence of CADASIL and Fabry Disease in a Cohort of MRI Defined Younger Onset Lacunar Stroke. [PDF]

, 2015
BACKGROUND AND PURPOSE: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), caused by mutations in the NOTCH3 gene, is the most common monogenic disorder causing lacunar stroke and cerebral small vessel ...
Baker, Rob, Bevan, Steve, Hassan, Ahamad, Hughes, Derralynn A, Kilarski, Laura L, Markus, Hugh S, Rutten-Jacobs, Loes CA, UK Young Lacunar Stroke DNA Study   +7 more
core   +16 more sources

Functional Characterisation of Alpha-Galactosidase A Mutations as a Basis for a New Classification System in Fabry Disease [PDF]

, 2013
This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.The study has been ...
Giese, A-K, Grittner, U, Kolodny, E, Lackner, KJ, Lukas, J, Markoff, A, Mascher, H, Meyer, W, Rolfs, A, Saviouk, V, Wree, P   +10 more
core   +3 more sources

Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation. [PDF]

PLoS ONE, 2018
Fabry disease (FD) results from X-linked inheritance of a mutation in the GLA gene, encoding for alpha galactosidase A, and is characterized by heterogeneous clinical manifestations.
L Lavalle, A S Thomas, B Beaton, H Ebrahim, M Reed, U Ramaswami, P Elliott, A B Mehta, D A Hughes   +8 more
doaj   +1 more source

The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat [PDF]

, 2017
PURPOSE: Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the α-galactosidase A gene. Migalastat, a pharmacological chaperone, binds to specific mutant forms of α-galactosidase A to restore lysosomal activity.
A Gal, AK Topaloglu, Benjamin Bronfin, C Filoni, Carrolee Barlow, CM Eng, Daniel G. Bichet, David J. Lockhart, Derralynn Hughes, Dominique P. Germain, DP Germain, DP Germain, DP Germain, DP Germain, E Conzelmann, Elfrida R. Benjamin, ER Benjamin, Evan Katz, Farhana Pruthi, FK Johnson, G Altarescu, GH Yam, GH Yam, Hadis Williams, J Lukas, J Shabbeer, Jay Barth, Jeff Castelli, John Kirk, JQ Fan, Julie Yu, Kenneth J. Valenzano, L Barisoni, L Echevarria, M Ries, Maria Cecilia Della Valle, MJ van Breemen, P Lemansky, R Giugliani, R Khanna, Raphael Schiffmann, RJ Desnick, RJ Desnick, RO Brady, Robert J. Desnick, Roberto Giugliani, S Ishii, Sarah Bond, SH Shin, SM Rombach, William R. Wilcox, WR Wilcox, X Wu, Xiaoyang Wu   +53 more
core   +1 more source

Systematic gene therapy derived from an investigative study of AAV2/8 vector gene therapy for Fabry disease

Orphanet Journal of Rare Diseases, 2023
Background Fabry disease (FD) is a progressive multisystemic disease characterized by a lysosomal enzyme deficiency. A lack of α-galactosidase A (α-Gal A) activity results in the progressive systemic accumulation of its substrates, including ...
Mulan Deng, Hongyu Zhou, Shaomei He, Haoheng Qiu, Yanping Wang, April Yuanyi Zhao, Yunping Mu, Fanghong Li, Allan Zijian Zhao   +8 more
doaj   +1 more source

Late-onset and classic phenotypes of Fabry disease in males with the GLA-Thr410Ala mutation

Open Heart, 2023
Objective To present phenotypic characteristics and biomarkers of a family with the rare mutation Thr410Ala of the α-galactosidase A gene (T410A/GLA) causing Fabry disease (FD).Methods and results In a woman in her 60s with hypertrophic cardiomyopathy ...
Christiane Auray-Blais, Kati Valtola, Marja Hedman, Maleeha Maria, Ilkka Kantola, Johanna Kuusisto, Seppo Helisalmi, Susanne Walls, Joose Raivo   +8 more
doaj   +1 more source

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

Sex differences of urinary and kidney globotriaosylceramide and lyso-globotriaosylceramide in Fabry mice

Journal of Lipid Research, 2011
The aim of our study was to measure globotriaosylceramide (Gb3) and lyso-Gb3 levels by tandem mass spectrometry in the urine and kidney in Fabry (gla knockout) mice and wild-type controls.
Brandon Durant, Sabrina Forni, Lawrence Sweetman, Nastry Brignol, Xing-Li Meng, Elfrida R. Benjamin, Raphael Schiffmann, Jin-Song Shen   +7 more
doaj   +1 more source

AAV2/6 Gene Therapy in a Murine Model of Fabry Disease Results in Supraphysiological Enzyme Activity and Effective Substrate Reduction

Molecular Therapy: Methods & Clinical Development, 2020
Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the alpha-galactosidase A (GLA) gene, which encodes the exogalactosyl hydrolase, alpha-galactosidase A (α-Gal A).
Makiko Yasuda, Marshall W. Huston, Silvere Pagant, Lin Gan, Susan St. Martin, Scott Sproul, Daniel Richards, Stephen Ballaron, Khaled Hettini, Annemarie Ledeboer, Lillian Falese, Liching Cao, Yanmei Lu, Michael C. Holmes, Kathleen Meyer, Robert J. Desnick, Thomas Wechsler   +16 more
doaj   +1 more source