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Journal Abstract Search

549 related items for PubMed ID: 23935525

  • 1. Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease.
    Lukas J, Giese AK, Markoff A, Grittner U, Kolodny E, Mascher H, Lackner KJ, Meyer W, Wree P, Saviouk V, Rolfs A.
    PLoS Genet; 2013; 9(8):e1003632. PubMed ID: 23935525
    [Abstract] [Full Text] [Related]

  • 2. Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients.
    Young-Gqamana B, Brignol N, Chang HH, Khanna R, Soska R, Fuller M, Sitaraman SA, Germain DP, Giugliani R, Hughes DA, Mehta A, Nicholls K, Boudes P, Lockhart DJ, Valenzano KJ, Benjamin ER.
    PLoS One; 2013; 8(3):e57631. PubMed ID: 23472096
    [Abstract] [Full Text] [Related]

  • 3. 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. PubMed ID: 19387866
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  • 4. Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.
    Lukas J, Scalia S, Eichler S, Pockrandt AM, Dehn N, Cozma C, Giese AK, Rolfs A.
    Hum Mutat; 2016 Jan; 37(1):43-51. PubMed ID: 26415523
    [Abstract] [Full Text] [Related]

  • 5. A synthetic chaperone corrects the trafficking defect and disease phenotype in a protein misfolding disorder.
    Yam GH, Zuber C, Roth J.
    FASEB J; 2005 Jan; 19(1):12-8. PubMed ID: 15629890
    [Abstract] [Full Text] [Related]

  • 6. Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin.
    Ishii S, Chang HH, Kawasaki K, Yasuda K, Wu HL, Garman SC, Fan JQ.
    Biochem J; 2007 Sep 01; 406(2):285-95. PubMed ID: 17555407
    [Abstract] [Full Text] [Related]

  • 7. Globotriaosylsphingosine (Lyso-Gb3) as a biomarker for cardiac variant (N215S) Fabry disease.
    Alharbi FJ, Baig S, Auray-Blais C, Boutin M, Ward DG, Wheeldon N, Steed R, Dawson C, Hughes D, Geberhiwot T.
    J Inherit Metab Dis; 2018 Mar 01; 41(2):239-247. PubMed ID: 29294190
    [Abstract] [Full Text] [Related]

  • 8. A simple method for quantification of plasma globotriaosylsphingosine: Utility for Fabry disease.
    Talbot A, Nicholls K, Fletcher JM, Fuller M.
    Mol Genet Metab; 2017 Sep 01; 122(1-2):121-125. PubMed ID: 28847675
    [Abstract] [Full Text] [Related]

  • 9. Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease.
    Park JY, Kim GH, Kim SS, Ko JM, Lee JJ, Yoo HW.
    Exp Mol Med; 2009 Jan 31; 41(1):1-7. PubMed ID: 19287194
    [Abstract] [Full Text] [Related]

  • 10. 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 31; 107(3):623-6. PubMed ID: 22841442
    [Abstract] [Full Text] [Related]

  • 11. Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?
    Duro G, Zizzo C, Cammarata G, Burlina A, Burlina A, Polo G, Scalia S, Oliveri R, Sciarrino S, Francofonte D, Alessandro R, Pisani A, Palladino G, Napoletano R, Tenuta M, Masarone D, Limongelli G, Riccio E, Frustaci A, Chimenti C, Ferri C, Pieruzzi F, Pieroni M, Spada M, Castana C, Caserta M, Monte I, Rodolico MS, Feriozzi S, Battaglia Y, Amico L, Losi MA, Autore C, Lombardi M, Zoccali C, Testa A, Postorino M, Mignani R, Zachara E, Giordano A, Colomba P.
    Int J Mol Sci; 2018 Nov 23; 19(12):. PubMed ID: 30477121
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  • 14. Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease.
    Lukas J, Cimmaruta C, Liguori L, Pantoom S, Iwanov K, Petters J, Hund C, Bunschkowski M, Hermann A, Cubellis MV, Rolfs A.
    Int J Mol Sci; 2020 Jan 31; 21(3):. PubMed ID: 32023956
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  • 17. Globotriaosylsphingosine (lyso-Gb3) and analogues in plasma and urine of patients with Fabry disease and correlations with long-term treatment and genotypes in a nationwide female Danish cohort.
    Effraimidis G, Feldt-Rasmussen U, Rasmussen ÅK, Lavoie P, Abaoui M, Boutin M, Auray-Blais C.
    J Med Genet; 2021 Oct 31; 58(10):692-700. PubMed ID: 32963035
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  • 18. Computational and modeling approaches to understand the impact of the Fabry's disease causing mutation (D92Y) on the interaction with pharmacological chaperone 1-deoxygalactonojirimycin (DGJ).
    Thirumal Kumar D, Judith E, Priyadharshini Christy J, Siva R, Tayubi IA, Chakraborty C, George Priya Doss C, Zayed H.
    Adv Protein Chem Struct Biol; 2019 Oct 31; 114():341-407. PubMed ID: 30635085
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  • 19. [Screening Test of Fabry Disease in Patients with Renal Replacement Therapy in the City of Modena].
    Alfano G, Ganda N, Cerami C, Mori G, Fontana F, Cappelli G.
    G Ital Nefrol; 2018 Mar 31; 35(2):. PubMed ID: 29582965
    [Abstract] [Full Text] [Related]

  • 20. Identification of a novel loss-of-function mutation of the GLA gene in a Chinese Han family with Fabry disease.
    Zhou C, Huang J, Cui G, Zeng H, Wang DW, Zhou Q.
    BMC Med Genet; 2018 Dec 27; 19(1):219. PubMed ID: 30587147
    [Abstract] [Full Text] [Related]

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