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Journal Abstract Search

144 related items for PubMed ID: 34172897

  • 1. Mucolipidosis type II and type III: a systematic review of 843 published cases.
    Dogterom EJ, Wagenmakers MAEM, Wilke M, Demirdas S, Muschol NM, Pohl S, Meijden JCV, Rizopoulos D, Ploeg ATV, Oussoren E.
    Genet Med; 2021 Nov; 23(11):2047-2056. PubMed ID: 34172897
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  • 2. The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations.
    Velho RV, Harms FL, Danyukova T, Ludwig NF, Friez MJ, Cathey SS, Filocamo M, Tappino B, Güneş N, Tüysüz B, Tylee KL, Brammeier KL, Heptinstall L, Oussoren E, van der Ploeg AT, Petersen C, Alves S, Saavedra GD, Schwartz IV, Muschol N, Kutsche K, Pohl S.
    Hum Mutat; 2019 Jul; 40(7):842-864. PubMed ID: 30882951
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  • 5. Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene.
    Cury GK, Matte U, Artigalás O, Alegra T, Velho RV, Sperb F, Burin MG, Ribeiro EM, Lourenço CM, Kim CA, Valadares ER, Galera MF, Acosta AX, Schwartz IV.
    Gene; 2013 Jul 15; 524(1):59-64. PubMed ID: 23566849
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  • 7. Imbalanced cellular metabolism compromises cartilage homeostasis and joint function in a mouse model of mucolipidosis type III gamma.
    Westermann LM, Fleischhauer L, Vogel J, Jenei-Lanzl Z, Ludwig NF, Schau L, Morellini F, Baranowsky A, Yorgan TA, Di Lorenzo G, Schweizer M, de Souza Pinheiro B, Guarany NR, Sperb-Ludwig F, Visioli F, Oliveira Silva T, Soul J, Hendrickx G, Wiegert JS, Schwartz IVD, Clausen-Schaumann H, Zaucke F, Schinke T, Pohl S, Danyukova T.
    Dis Model Mech; 2020 Nov 18; 13(11):. PubMed ID: 33023972
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  • 8. Identification of predominant GNPTAB gene mutations in Eastern Chinese patients with mucolipidosis II/III and a prenatal diagnosis of mucolipidosis II.
    Wang Y, Ye J, Qiu WJ, Han LS, Gao XL, Liang LL, Gu XF, Zhang HW.
    Acta Pharmacol Sin; 2019 Feb 18; 40(2):279-287. PubMed ID: 29872134
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  • 9. Distinct Modes of Balancing Glomerular Cell Proteostasis in Mucolipidosis Type II and III Prevent Proteinuria.
    Sachs W, Sachs M, Krüger E, Zielinski S, Kretz O, Huber TB, Baranowsky A, Westermann LM, Voltolini Velho R, Ludwig NF, Yorgan TA, Di Lorenzo G, Kollmann K, Braulke T, Schwartz IV, Schinke T, Danyukova T, Pohl S, Meyer-Schwesinger C.
    J Am Soc Nephrol; 2020 Aug 18; 31(8):1796-1814. PubMed ID: 32641396
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  • 10. Disease-causing missense mutations within the N-terminal transmembrane domain of GlcNAc-1-phosphotransferase impair endoplasmic reticulum translocation or Golgi retention.
    Lee WS, Jennings BC, Doray B, Kornfeld S.
    Hum Mutat; 2020 Jul 18; 41(7):1321-1328. PubMed ID: 32220096
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  • 14. Combined in vitro and in silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/beta.
    Danyukova T, Ludwig NF, Velho RV, Harms FL, Güneş N, Tidow H, Schwartz IV, Tüysüz B, Pohl S.
    Hum Mutat; 2020 Jan 18; 41(1):133-139. PubMed ID: 31579991
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  • 15. Mucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein (GNPTAB).
    De Pace R, Coutinho MF, Koch-Nolte F, Haag F, Prata MJ, Alves S, Braulke T, Pohl S.
    Hum Mutat; 2014 Mar 18; 35(3):368-76. PubMed ID: 24375680
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  • 16. Mucolipidosis type III gamma: Three novel mutation and genotype-phenotype study in eleven patients.
    Tüysüz B, Kasapçopur Ö, Alkaya DU, Şahin S, Sözeri B, Yeşil G.
    Gene; 2018 Feb 05; 642():398-407. PubMed ID: 29170090
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  • 17. Molecular analysis of cell lines from patients with mucolipidosis II and mucolipidosis III.
    Zarghooni M, Dittakavi SS.
    Am J Med Genet A; 2009 Dec 05; 149A(12):2753-61. PubMed ID: 19938078
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  • 18. Analyses of disease-related GNPTAB mutations define a novel GlcNAc-1-phosphotransferase interaction domain and an alternative site-1 protease cleavage site.
    Velho RV, De Pace R, Klünder S, Sperb-Ludwig F, Lourenço CM, Schwartz IV, Braulke T, Pohl S.
    Hum Mol Genet; 2015 Jun 15; 24(12):3497-505. PubMed ID: 25788519
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  • 19. Prenatal skeletal dysplasia phenotype in severe MLII alpha/beta with novel GNPTAB mutation.
    Aggarwal S, Coutinho MF, Dalal AB, Mohamed Nurul Jain SJ, Prata MJ, Alves S.
    Gene; 2014 Jun 01; 542(2):266-8. PubMed ID: 24685522
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  • 20. Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene.
    Kudo M, Brem MS, Canfield WM.
    Am J Hum Genet; 2006 Mar 01; 78(3):451-63. PubMed ID: 16465621
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