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Journal Abstract Search

176 related items for PubMed ID: 28918368

  • 1. GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms.
    Ludwig NF, Velho RV, Sperb-Ludwig F, Acosta AX, Ribeiro EM, Kim CA, Gandelman Horovitz DD, Boy R, Rodovalho-Doriqui MJ, Lourenço CM, Santos ES, Braulke T, Pohl S, Schwartz IVD.
    Int J Biochem Cell Biol; 2017 Nov; 92():90-94. PubMed ID: 28918368
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  • 4. 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; 41(7):1321-1328. PubMed ID: 32220096
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  • 5. Analysis of mucolipidosis II/III GNPTAB missense mutations identifies domains of UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase involved in catalytic function and lysosomal enzyme recognition.
    Qian Y, van Meel E, Flanagan-Steet H, Yox A, Steet R, Kornfeld S.
    J Biol Chem; 2015 Jan 30; 290(5):3045-56. PubMed ID: 25505245
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  • 6. 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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  • 7. 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 15; 40(7):842-864. PubMed ID: 30882951
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  • 8. 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 15; 41(1):133-139. PubMed ID: 31579991
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  • 9. Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations.
    Encarnação M, Lacerda L, Costa R, Prata MJ, Coutinho MF, Ribeiro H, Lopes L, Pineda M, Ignatius J, Galvez H, Mustonen A, Vieira P, Lima MR, Alves S.
    Clin Genet; 2009 Jul 15; 76(1):76-84. PubMed ID: 19659762
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  • 12. Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III.
    Pasumarthi D, Gupta N, Sheth J, Jain SJMN, Rungsung I, Kabra M, Ranganath P, Aggarwal S, Phadke SR, Girisha KM, Shukla A, Datar C, Verma IC, Puri RD, Bhavsar R, Mistry M, Sankar VH, Gowrishankar K, Agrawal D, Nair M, Danda S, Soni JP, Dalal A.
    J Hum Genet; 2020 Nov 15; 65(11):971-984. PubMed ID: 32651481
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  • 14. GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report.
    Ho CC, Tsung LL, Liu KT, Poon WT.
    BMC Med Genet; 2018 Sep 12; 19(1):162. PubMed ID: 30208878
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  • 15. Mislocalization of phosphotransferase as a cause of mucolipidosis III αβ.
    van Meel E, Qian Y, Kornfeld SA.
    Proc Natl Acad Sci U S A; 2014 Mar 04; 111(9):3532-7. PubMed ID: 24550498
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  • 16. Comparative pathology of murine mucolipidosis types II and IIIC.
    Vogel P, Payne BJ, Read R, Lee WS, Gelfman CM, Kornfeld S.
    Vet Pathol; 2009 Mar 04; 46(2):313-24. PubMed ID: 19261645
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  • 18. Mucolipidosis III GNPTG Missense Mutations Cause Misfolding of the γ Subunit of GlcNAc-1-Phosphotransferase.
    van Meel E, Kornfeld S.
    Hum Mutat; 2016 Jul 04; 37(7):623-6. PubMed ID: 27038293
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  • 19. Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III.
    Di Lorenzo G, Westermann LM, Yorgan TA, Stürznickel J, Ludwig NF, Ammer LS, Baranowsky A, Ahmadi S, Pourbarkhordariesfandabadi E, Breyer SR, Board TN, Foster A, Mercer J, Tylee K, Velho RV, Schweizer M, Renné T, Braulke T, Randon DN, Sperb-Ludwig F, de Camargo Pinto LL, Moreno CA, Cavalcanti DP, Amling M, Kutsche K, Winter D, Muschol NM, Schwartz IVD, Rolvien T, Danyukova T, Schinke T, Pohl S.
    Genet Med; 2021 Dec 04; 23(12):2369-2377. PubMed ID: 34341521
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  • 20. Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.
    Cathey SS, Leroy JG, Wood T, Eaves K, Simensen RJ, Kudo M, Stevenson RE, Friez MJ.
    J Med Genet; 2010 Jan 04; 47(1):38-48. PubMed ID: 19617216
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