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Items: 1 to 20 of 100

1.

Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.

Saito S, Ohno K, Sakuraba H.

PLoS One. 2013 Dec 26;8(12):e84267. doi: 10.1371/journal.pone.0084267. eCollection 2013.

2.

Structural characterization of mutant alpha-galactosidases causing Fabry disease.

Sugawara K, Ohno K, Saito S, Sakuraba H.

J Hum Genet. 2008;53(9):812-24. doi: 10.1007/s10038-008-0316-9. Epub 2008 Jul 17.

PMID:
18633574
3.

Fabry disease: correlation between structural changes in alpha-galactosidase, and clinical and biochemical phenotypes.

Matsuzawa F, Aikawa S, Doi H, Okumiya T, Sakuraba H.

Hum Genet. 2005 Aug;117(4):317-28. Epub 2005 May 28.

PMID:
15924232
4.

Structural basis of Fabry disease.

Garman SC, Garboczi DN.

Mol Genet Metab. 2002 Sep-Oct;77(1-2):3-11. Review.

PMID:
12359124
5.

Fabry disease: biochemical, pathological and structural studies of the α-galactosidase A with E66Q amino acid substitution.

Togawa T, Tsukimura T, Kodama T, Tanaka T, Kawashima I, Saito S, Ohno K, Fukushige T, Kanekura T, Satomura A, Kang DH, Lee BH, Yoo HW, Doi K, Noiri E, Sakuraba H.

Mol Genet Metab. 2012 Apr;105(4):615-20. doi: 10.1016/j.ymgme.2012.01.010. Epub 2012 Jan 18.

PMID:
22305854
6.
7.

The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines.

Benjamin ER, Flanagan JJ, Schilling A, Chang HH, Agarwal L, Katz E, Wu X, Pine C, Wustman B, Desnick RJ, Lockhart DJ, Valenzano KJ.

J Inherit Metab Dis. 2009 Jun;32(3):424-40. doi: 10.1007/s10545-009-1077-0. Epub 2009 Apr 18.

PMID:
19387866
8.

De novo mutation in a male patient with Fabry disease: a case report.

Iemolo F, Pizzo F, Albeggiani G, Zizzo C, Colomba P, Scalia S, Bartolotta C, Duro G.

BMC Res Notes. 2014 Jan 7;7:11. doi: 10.1186/1756-0500-7-11.

9.

Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease.

Chien YH.

Hum Genet. 2009 Apr;125(3):336. No abstract available.

PMID:
19309800
10.

Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.

Eng CM, Resnick-Silverman LA, Niehaus DJ, Astrin KH, Desnick RJ.

Am J Hum Genet. 1993 Dec;53(6):1186-97.

12.

Functional studies of new GLA gene mutations leading to conformational Fabry disease.

Filoni C, Caciotti A, Carraresi L, Cavicchi C, Parini R, Antuzzi D, Zampetti A, Feriozzi S, Poisetti P, Garman SC, Guerrini R, Zammarchi E, Donati MA, Morrone A.

Biochim Biophys Acta. 2010 Feb;1802(2):247-52. doi: 10.1016/j.bbadis.2009.11.003. Epub 2009 Nov 24.

13.

The molecular defect leading to Fabry disease: structure of human alpha-galactosidase.

Garman SC, Garboczi DN.

J Mol Biol. 2004 Mar 19;337(2):319-35.

PMID:
15003450
14.

Fabry-database.org: database of the clinical phenotypes, genotypes and mutant α-galactosidase A structures in Fabry disease.

Saito S, Ohno K, Sakuraba H.

J Hum Genet. 2011 Jun;56(6):467-8. doi: 10.1038/jhg.2011.31. Epub 2011 Mar 17.

PMID:
21412250
15.

Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele.

Yasuda M, Shabbeer J, Benson SD, Maire I, Burnett RM, Desnick RJ.

Hum Mutat. 2003 Dec;22(6):486-92.

PMID:
14635108
16.

Mutant α-galactosidase A with M296I does not cause elevation of the plasma globotriaosylsphingosine level.

Mitobe S, Togawa T, Tsukimura T, Kodama T, Tanaka T, Doi K, Noiri E, Akai Y, Saito Y, Yoshino M, Takenaka T, Saito S, Ohno K, Sakuraba H.

Mol Genet Metab. 2012 Nov;107(3):623-6. doi: 10.1016/j.ymgme.2012.07.003. Epub 2012 Jul 14.

PMID:
22841442
17.

Frequency of Fabry disease in male and female haemodialysis patients in Spain.

Gaspar P, Herrera J, Rodrigues D, Cerezo S, Delgado R, Andrade CF, Forascepi R, Macias J, del Pino MD, Prados MD, de Alegria PR, Torres G, Vidau P, Sá-Miranda MC.

BMC Med Genet. 2010 Feb 1;11:19. doi: 10.1186/1471-2350-11-19.

18.

Prediction of the clinical phenotype of Fabry disease based on protein sequential and structural information.

Saito S, Ohno K, Sese J, Sugawara K, Sakuraba H.

J Hum Genet. 2010 Mar;55(3):175-8. doi: 10.1038/jhg.2010.5. Epub 2010 Feb 5.

PMID:
20139917
19.

A missense mutation, A156T, in the alpha-galactosidase A gene causes typical Fabry disease.

Konoshita T, Mutoh H, Yokoi T, Koni I, Miyamori I, Mabuchi H.

Clin Nephrol. 2001 Mar;55(3):243-7.

PMID:
11316246
20.

A novel A97P amino acid substitution in alpha-galactosidase A leads to a classical Fabry disease with cardiac manifestations.

Kimura K, Sato-Matsumura KC, Nakamura H, Onodera Y, Morita K, Enami N, Shougase T, Ohsaki T, Kato M, Takahashi T, Yamaguchi Y, Shimizu H.

Br J Dermatol. 2002 Sep;147(3):545-8.

PMID:
12207598

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