Works matching DE "ALPHA-galactosidase"

Results: 84

Pathologic endothelial response and impaired function of circulating angiogenic cells in patients with Fabry disease.

Published in:

Basic Research in Cardiology, 2013, v. 108, n. 1, p. 1, doi. 10.1007/s00395-012-0311-3

By:

Lorenzen, Johan;
Dietrich, Bernd;
Fiedler, Jan;
Jazbutyte, Virginija;
Fleissner, Felix;
Karpinski, Nicola;
Weidemann, Frank;
Wanner, Christoph;
Asan, Esther;
Caprio, Massimiliano;
Ertl, Georg;
Bauersachs, Johann;
Thum, Thomas

Publication type:

Article

Case report of concurrent Fabry disease and amyotrophic lateral sclerosis supports a common pathway of pathogenesis.

Published in:

2016

By:

Beer, Alexander M.;
Cooper-Knock, Johnathan;
Fletcher, Sakina;
Brown-Wright, Sian Heledd;
Nandakumar, T Pisharam;
Shaw, Pamela J.

Publication type:

Case Study

In silico analysis of the α-amylase family GH57: eventual subfamilies reflecting enzyme specificities.

Published in:

3 Biotech, 2018, v. 8, n. 7, p. 1, doi. 10.1007/s13205-018-1325-9

By:

Martinovičová, Mária;
Janeček, Štefan

Publication type:

Article

Segmental cherry angiomas associated with extragenital lichen sclerosus: a report of two cases.

Published in:

Clinical & Experimental Dermatology, 2013, v. 38, n. 4, p. 386, doi. 10.1111/j.1365-2230.2012.04479.x

By:

Ingram, J. R.;
Belgi, G.;
Cook, L. J.;
Hughes, B. R.;
Karim, A.;
Finlay, A. Y.

Publication type:

Article

Fabry disease in children: a federal screening programme in Russia.

Published in:

2017

By:

Namazova-Baranova, Leyla;
Baranov, Alexander;
Pushkov, Aleksander;
Savostyanov, Kirill;
Namazova-Baranova, Leyla Seymurovna;
Baranov, Alexander Alexandrovich;
Pushkov, Aleksander Alekseevich;
Savostyanov, Kirill Victorovich

Publication type:

journal article

Thermus thermophilus as source of thermozymes for biotechnological applications: homologous expression and biochemical characterization of an ɑ-galactosidase.

Published in:

Microbial Cell Factories, 2017, v. 16, p. 1, doi. 10.1186/s12934-017-0638-4

By:

Aulitto, Martina;
Fusco, Salvatore;
Fiorentino, Gabriella;
Limauro, Danila;
Pedone, Emilia;
Bartolucci, Simonetta;
Contursi, Patrizia

Publication type:

Article

Characterization of two novel heat-active α-galactosidases from thermophilic bacteria.

Published in:

Extremophiles, 2017, v. 21, n. 1, p. 85, doi. 10.1007/s00792-016-0885-z

By:

Schröder, Carola;
Janzer, Viktoria-Astrid;
Schirrmacher, Georg;
Claren, Jörg;
Antranikian, Garabed

Publication type:

Article

Relative bioavailability and the effect of meal type and timing on the pharmacokinetics of migalastat in healthy volunteers.

Published in:

Clinical Pharmacology in Drug Development, 2015, v. 4, n. 3, p. 193, doi. 10.1002/cpdd.147

By:

Johnson, Franklin K.;
Mudd, Paul N.;
Janmohamed, Salim G.

Publication type:

Article

Kidney transplantation from a mother with unrecognized Fabry disease to her son with low α-galactosidase A activity: A 14-year follow-up without enzyme replacement therapy.

Published in:

Nephrology, 2016, v. 21, p. 57, doi. 10.1111/nep.12771

By:

Odani, Keiko;
Okumi, Masayoshi;
Honda, Kazuho;
Ishida, Hideki;
Tanabe, Kazunari

Publication type:

Article

Long-Term Effect of Antibodies against Infused Alpha-Galactosidase A in Fabry Disease on Plasma and Urinary (lyso)Gb3 Reduction and Treatment Outcome.

Published in:

PLoS ONE, 2012, v. 7, n. 10, p. 1, doi. 10.1371/journal.pone.0047805

By:

Rombach, Saskia M.;
Aerts, Johannes M. F. G.;
Poorthuis, Ben J. H. M.;
Groener, Johanna E. M.;
Donker-Koopman, Wilma;
Hendriks, Erik;
Mirzaian, Mina;
Kuiper, Sijmen;
Wijburg, Frits A.;
Hollak, Carla E. M.;
Linthorst, Gabor E.

Publication type:

Article

Phenotype and Genotype Characterization and Twin Association in Patients with Anderson-Fabry Cardiomyopathy.

Published in:

Cardiology, 2012, v. 121, n. 2, p. 71, doi. 10.1159/000336168

By:

Gomez, Miquel;
Molina, Lluis;
Cladellas, Mercedes;
Ascoeta, Soledad;
Soler, Cristina;
Ble, Mireia;
Ramirez, Aleyska;
Bruguera, Jordi

Publication type:

Article

Dorsal root ganglion magnetic resonance imaging biomarker correlations with pain in Fabry disease.

Published in:

Brain Communications, 2024, v. 6, n. 3, p. 1, doi. 10.1093/braincomms/fcae155

By:

Schindehütte, Magnus;
Weiner, Simon;
Klug, Katharina;
Hölzli, Lea;
Nauroth-Kreß, Christopher;
Hessenauer, Florian;
Kampf, Thomas;
Homola, György A;
Nordbeck, Peter;
Wanner, Christoph;
Sommer, Claudia;
Üçeyler, Nurcan;
Pham, Mirko

Publication type:

Article

Effects of reduction in the alpha-gal antigen on bony union: a model of xenobone graft using GalT knockout mouse.

Published in:

Xenotransplantation, 2014, v. 21, n. 3, p. 267, doi. 10.1111/xen.12092

By:

Park, Moon Seok;
Kim, Tae Gyun;
Lee, Kyoung Min;
Chung, Chin Youb;
Kwon, Soon‐Sun;
Yoon, Il‐Hee;
Park, Chung‐Gyu

Publication type:

Article

Alpha-Gal detectors in xenotransplantation research: a word of caution.

Published in:

Xenotransplantation, 2012, v. 19, n. 4, p. 215, doi. 10.1111/j.1399-3089.2012.00714.x

By:

Naso, Filippo;
Gandaglia, Alessandro;
Iop, Laura;
Spina, Michele;
Gerosa, Gino

Publication type:

Article

Pig xenogeneic antigen modification with green coffee bean α-galactosidase.

Published in:

Xenotransplantation, 1999, v. 6, n. 4, p. 238, doi. 10.1034/j.1399-3089.1999.00035.x

By:

Luo, Y.;
Wen, J.;
Luo, C.;
Cummings, R. D.;
Cooper, D. K. C.

Publication type:

Article

Is it or is it not a pathogenic mutation? Is it or is it not the podocyte?

Published in:

2012

By:

Sanchez-Niño, Maria Dolores;
Ortiz, Alberto

Publication type:

Opinion

Perturbation of the interaction between Gal4p and Gal80p of the S accharomyces cerevisiae GAL switch results in altered responses to galactose and glucose.

Published in:

Molecular Microbiology, 2014, v. 94, n. 1, p. 202, doi. 10.1111/mmi.12757

By:

Das Adhikari, Akshay Kumar;
Qureshi, Mohd. Tanvir;
Kar, Rajesh Kumar;
Bhat, Paike Jayadeva

Publication type:

Article

New mutations in the GLA gene in Brazilian families with Fabry disease.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 6, p. 347, doi. 10.1038/jhg.2012.32

By:

Turaça, Lauro Thiago;
Pessoa, Juliana Gilbert;
Motta, Fabiana Louise;
Muñoz Rojas, Maria Verônica;
Müller, Karen Barbosa;
Lourenço, Charles Marques;
Junior Marques, Wilson;
D'Almeida, Vania;
Martins, Ana Maria;
Pesquero, João Bosco

Publication type:

Article

Gastrointestinal involvement in Fabry disease. So important, yet often neglected.

Published in:

Clinical Genetics, 2016, v. 89, n. 1, p. 5, doi. 10.1111/cge.12673

By:

Politei, J.;
Thurberg, B.L.;
Wallace, E.;
Warnock, D.;
Serebrinsky, G.;
Durand, C.;
Schenone, A.B.

Publication type:

Article

Fabry disease and enzyme replacement therapy in classic patients with same mutation: different formulations -- different outcome?

Published in:

Clinical Genetics, 2016, v. 89, n. 1, p. 88, doi. 10.1111/cge.12590

By:

Politei, J.;
Schenone, A.B.;
Cabrera, G.;
Heguilen, R.;
Szlago, M.

Publication type:

Article

Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance.

Published in:

Clinical Genetics, 2015, v. 88, n. 2, p. 161, doi. 10.1111/cge.12449

By:

Smid, B.E.;
Hollak, C.E.M.;
Poorthuis, B.J.H.M.;
van den Bergh Weerman, M.A.;
Florquin, S.;
Kok, W.E.M.;
Lekanne Deprez, R.H.;
Timmermans, J.;
Linthorst, G.E.

Publication type:

Article

Intrafamilial phenotypic variability in four families with Anderson-Fabry disease.

Published in:

Clinical Genetics, 2014, v. 86, n. 3, p. 258, doi. 10.1111/cge.12261

By:

Rigoldi, M.;
Concolino, D.;
Morrone, A.;
Pieruzzi, F.;
Ravaglia, R.;
Furlan, F.;
Santus, F.;
Strisciuglio, P.;
Torti, G.;
Parini, R.

Publication type:

Article

Misdiagnosis of familial Mediterranean fever in patients with Anderson-Fabry disease.

Published in:

Clinical Genetics, 2013, v. 83, n. 6, p. 576, doi. 10.1111/j.1399-0004.2012.01940.x

By:

Zizzo, C;
Colomba, P;
Albeggiani, G;
Gallizzi, R;
Iemolo, F;
Nuzzo, D;
Vasto, S;
Caruso, C;
Duro, G

Publication type:

Article

Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.

Published in:

Clinical Genetics, 2012, v. 81, n. 3, p. 224, doi. 10.1111/j.1399-0004.2011.01689.x

By:

Ferri, L;
Guido, C;
la Marca, G;
Malvagia, S;
Cavicchi, C;
Fiumara, A;
Barone, R;
Parini, R;
Antuzzi, D;
Feliciani, C;
Zampetti, A;
Manna, R;
Giglio, S;
Della Valle, CM;
Wu, X;
Valenzano, KJ;
Benjamin, ER;
Donati, MA;
Guerrini, R;
Genuardi, M

Publication type:

Article

Aspectos de actualidad en enfermedad de Fabry.

Published in:

Medicina Interna de Mexico, 2012, v. 28, n. 2, p. 177

By:

Gutiérrez-Amavizca, Bianca Ethel;
Figuera, Luis E.

Publication type:

Article

Diagnosing Fabry disease--delays and difficulties within discordant siblings.

Published in:

QJM: An International Journal of Medicine, 2015, v. 108, n. 7, p. 585, doi. 10.1093/qjmed/hct024

By:

BRADY, M.;
MONTGOMERY, E.;
BRENNAN, P.;
MOHINDRA, R.;
SAYER, J. A.

Publication type:

Article

Mutational analysis of the GLA gene in Mexican families with Fabry disease.

Published in:

Journal of Genetics, 2017, v. 96, n. 1, p. 161, doi. 10.1007/s12041-017-0744-4

By:

GUTIÉRREZ-AMAVIZCA, BIANCA;
GAL, ANDREAS;
ORTÍZ-OROZCO, ROCÍO;
ORTH, ULRICH;
MONTES DE OCA, ERNESTO;
GUTIÉRREZ-AMAVIZCA, JAIME;
FIGUERA, LUIS

Publication type:

Article

A New α-Galactosidase from Thermoacidophilic Alicyclobacillus sp. A4 with Wide Acceptor Specificity for Transglycosylation.

Published in:

Applied Biochemistry & Biotechnology, 2014, v. 174, n. 1, p. 328, doi. 10.1007/s12010-014-1050-8

By:

Wang, Huimin;
Ma, Rui;
Shi, Pengjun;
Xue, Xianli;
Luo, Huiying;
Huang, Huoqing;
Bai, Yingguo;
Yang, Peilong;
Yao, Bin

Publication type:

Article

Functional Analysis of the 5′-Regulatory Region of the Maize ALKALINE ALPHA- GALACTOSIDASE1 Gene.

Published in:

Plant Molecular Biology Reporter, 2015, v. 33, n. 5, p. 1361, doi. 10.1007/s11105-014-0840-z

By:

Han, Qinghui;
Li, Tao;
Zhang, Lifeng;
Yan, Jun;
Dirk, Lynnette;
Downie, Bruce;
Zhao, Tianyong

Publication type:

Article

The Proliferation Mechanism of Lactobacillus plantarum RB1 Stimulated by Stachyose.

Published in:

Current Microbiology, 2017, v. 74, n. 6, p. 732, doi. 10.1007/s00284-017-1229-7

By:

Pan, Qing;
Zeng, Xiaoqun;
Pan, Daodong;
Peng, Liuyang;
Wu, Zhen;
Sun, Yangying;
Wei, Yan

Publication type:

Article

香菇产α-半乳糖苷酶的液体发酵工艺优化.

Published in:

Acta Edulis Fungi, 2018, v. 25, n. 2, p. 79, doi. 10.16488/j.cnki.1005-9873.2018.02.011

By:

陈博文;
李贞蓉;
常明昌;
徐丽婧;
孟俊龙

Publication type:

Article

Biocatalytic characterization of Aspergillus oryzae β-galactosidase immobilized on functionalized multi-walled carbon nanotubes.

Published in:

Biocatalysis & Biotransformation, 2017, v. 35, n. 4, p. 260, doi. 10.1080/10242422.2017.1323886

By:

Dutra Rosolen, Michele;
Gennari, Adriano;
Volpato, Giandra;
de Souza, Claucia Fernanda Volken

Publication type:

Article

Human Alpha Galactosidases Transiently Produced in Nicotiana benthamiana Leaves: New Insights in Substrate Specificities with Relevance for Fabry Disease.

Published in:

Frontiers in Plant Science, 2017, p. 1, doi. 10.3389/fpls.2017.01026

By:

Kytidou, Kassiani;
Beenakker, Thomas J. M.;
Westerhof, Lotte B.;
Hokke, Cornelis H.;
Moolenaar, Geri F.;
Goosen, Nora;
Mirzaian, Mina;
Ferraz, Maria J.;
de Geus, Mark;
Kallemeijn, Wouter W.;
Overkleeft, Herman S.;
Boot, Rolf G.;
Schots, Arjen;
Bosch, Dirk;
Aerts, Johannes M. F. G.

Publication type:

Article

Human Alpha Galactosidases Transiently Produced in Nicotiana benthamiana Leaves: New Insights in Substrate Specificities with Relevance for Fabry Disease.

Published in:

Frontiers in Plant Science, 2017, p. 1, doi. 10.3389/fpls.2017.01026

By:

Kytidou, Kassiani;
Beenakker, Thomas J. M.;
Westerhof, Lotte B.;
Hokke, Cornelis H.;
Moolenaar, Geri F.;
Goosen, Nora;
Mirzaian, Mina;
Ferraz, Maria J.;
de Geus, Mark;
Kallemeijn, Wouter W.;
Overkleeft, Herman S.;
Boot, Rolf G.;
Schots, Arjen;
Bosch, Dirk;
Aerts, Johannes M. F. G.

Publication type:

Article

Late onset palmar angiokeratoma circumscriptum: An unusual presentation.

Published in:

2014

By:

Jindal, Saurabh R.;
Chalvade, Pallavi;
Jerajani, H. R.

Publication type:

Case Study

A Functional Comparison of Treatment of Intrinsic Sphincter Deficiency with Muscle‐Derived and Adipose Tissue‐Derived Stem Cells.

Published in:

IUBMB Life, 2018, v. 70, n. 10, p. 976, doi. 10.1002/iub.1896

By:

Cui, Lingang;
Meng, Qingjun;
Wen, Jianguo;
Gao, Zhan;
Yan, Zechen;
Tian, Yudong;
Xu, Pengchao;
He, Xianfei;
Yu, Haizhou;
Lian, Pengchao

Publication type:

Article

Unexplained left ventricular hypertrophy, arrhythmias and conduction disorders: take into account Anderson-Fabry Disease (AFD). A case report of a diagnosed and under treatment AFD in a heterozygous female, with severe left ventricular hypertrophy and conduction disorders

Published in:

2014

By:

Văcărescu, Cristina;
Lighezan, Daniel;
Mangea, Monica;
Goanță, Emilia;
Ruhmann, Tiberiu;
Cozma, Dragoș

Publication type:

Case Study

Genome-wide microarray analysis leads to identification of genes in response to herbicide, metribuzin in wheat leaves.

Published in:

PLoS ONE, 2017, v. 12, n. 12, p. 1, doi. 10.1371/journal.pone.0189639

By:

Pilcher, Whitney;
Zandkamiri, Hana;
Arceneaux, Kelly;
Harrison, Stephen;
Baisakh, Niranjan

Publication type:

Article

Safe and Successful Treatment With Agalsidase Beta During Pregnancy in Fabry Disease.

Published in:

2015

By:

Tasci, Elif Senocak;
Bicik, Zerrin

Publication type:

Case Study

Establishing 3-nitrotyrosine as a biomarker for the vasculopathy of Fabry disease.

Published in:

Kidney International, 2014, v. 86, n. 1, p. 58, doi. 10.1038/ki.2013.520

By:

Shu, Liming;
Vivekanandan-Giri, Anuradha;
Pennathur, Subramaniam;
Smid, Bouwien E;
Aerts, Johannes M FG;
Hollak, Carla E M;
Shayman, James A

Publication type:

Article

Ocular findings in Colombian patients affected with Fabry disease.

Published in:

Biomédica: Revista del Instituto Nacional de Salud, 2018, v. 38, n. 3, p. 2

By:

Rothstein, Katherine;
Gálvez, Jubby M.;
Gutiérrez, Ángela M.;
Ric, Laura;
Criollo, Eveling;
de-la-Torre, Alejandra

Publication type:

Article

Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant.

Published in:

2016

By:

Lenders, Malte;
Weidemann, Frank;
Kurschat, Christine;
Canaan-Kühl, Sima;
Duning, Thomas;
Stypmann, Jörg;
Schmitz, Boris;
Reiermann, Stefanie;
Krämer, Johannes;
Blaschke, Daniela;
Wanner, Christoph;
Brand, Stefan-Martin;
Brand, Eva

Publication type:

journal article

Alpha-gal is a possible target of IgE-mediated reactivity to antivenom.

Published in:

Allergy, 2017, v. 72, n. 5, p. 764, doi. 10.1111/all.13073

By:

Fischer, J.;
Eberlein, B.;
Hilger, C.;
Eyer, F.;
Eyerich, S.;
Ollert, M.;
Biedermann, T.

Publication type:

Article

Disease-targeted sequencing: a cornerstone in the clinic.

Published in:

Nature Reviews Genetics, 2013, v. 14, n. 4, p. 295, doi. 10.1038/nrg3463

By:

Rehm, Heidi L.

Publication type:

Article

Clinical utility gene card for: Fabry disease.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 2, p. 1, doi. 10.1038/ejhg.2011.178

By:

Gal, Andreas;
Beck, Michael;
Winchester, Bryan

Publication type:

Article

Molecular characterization and in silico analysis of an alkaline α-galactosidase gene (Vv-α-gal/SIP) in grapevines (Vitis vinifera. L).

Published in:

Turkish Journal of Biochemistry / Turk Biyokimya Dergisi, 2012, v. 37, n. 4, p. 368, doi. 10.5505/tjb.2012.19483

By:

Daldoul, Samia;
Hanana, Mohsen;
Mliki, Ahmed

Publication type:

Article

Oral Chaperone Therapy Migalastat for Treating Fabry Disease: Enzymatic Response and Serum Biomarker Changes After 1 Year.

Published in:

Clinical Pharmacology & Therapeutics, 2019, v. 105, n. 5, p. 1224, doi. 10.1002/cpt.1321

By:

Müntze, Jonas;
Gensler, Daniel;
Maniuc, Octavian;
Liu, Dan;
Cairns, Tereza;
Oder, Daniel;
Hu, Kai;
Frantz, Stefan;
Wanner, Christoph;
Nordbeck, Peter;
Lorenz, Kristina

Publication type:

Article

Familial hypertrophic obstructive cardiomyopathy with the GLA E66Q mutation and zebra body.

Published in:

2016

By:

Masayoshi Oikawa;
Nobuo Sakamoto;
Atsushi Kobayashi;
Satoshi Suzuki;
Akiomi Yoshihisa;
Takayoshi Yamaki;
Kazuhiko Nakazato;
Hitoshi Suzuki;
Shu-ichi Saitoh;
Yuichirou Kiko;
Hajime Nakano;
Takeharu Hayashi;
Akinori Kimura;
Yasuchika Takeishi;
Oikawa, Masayoshi;
Sakamoto, Nobuo;
Kobayashi, Atsushi;
Suzuki, Satoshi;
Yoshihisa, Akiomi;
Yamaki, Takayoshi

Publication type:

journal article

Detection of blood Gb3 deposits as a new tool for diagnosis and therapy monitoring in patients with classic Fabry disease.

Published in:

2018

By:

Üçeyler, N.;
Böttger, J.;
Henkel, L.;
Langjahr, M.;
Mayer, C.;
Nordbeck, P.;
Wanner, C.;
Sommer, C.

Publication type:

journal article

Systematic purification of salt-intolerant proteins by ion-exchange chromatography: The example of human α-galactosidase A.

Published in:

Engineering in Life Sciences, 2015, v. 15, n. 2, p. 195, doi. 10.1002/elsc.201400210

By:

Baumann, Pascal;
Osberghaus, Anna;
Hubbuch, Jürgen

Publication type:

Article