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Journal Abstract Search

210 related items for PubMed ID: 19261645

  • 1. 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; 46(2):313-24. PubMed ID: 19261645
    [Abstract] [Full Text] [Related]

  • 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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  • 3. 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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  • 4. 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 30; 78(3):451-63. PubMed ID: 16465621
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  • 5. 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 30; 40(2):279-287. PubMed ID: 29872134
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  • 6. 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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  • 7. Three novel homozygous mutations in the GNPTG gene that cause mucolipidosis type III gamma.
    Liu S, Zhang W, Shi H, Meng Y, Qiu Z.
    Gene; 2014 Feb 10; 535(2):294-8. PubMed ID: 24316125
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  • 8. Neurologic abnormalities in mouse models of the lysosomal storage disorders mucolipidosis II and mucolipidosis III γ.
    Idol RA, Wozniak DF, Fujiwara H, Yuede CM, Ory DS, Kornfeld S, Vogel P.
    PLoS One; 2014 Feb 10; 9(10):e109768. PubMed ID: 25314316
    [Abstract] [Full Text] [Related]

  • 9. Enzyme-specific differences in mannose phosphorylation between GlcNAc-1-phosphotransferase αβ and γ subunit deficient zebrafish support cathepsin proteases as early mediators of mucolipidosis pathology.
    Flanagan-Steet H, Matheny C, Petrey A, Parker J, Steet R.
    Biochim Biophys Acta; 2016 Sep 10; 1860(9):1845-53. PubMed ID: 27241848
    [Abstract] [Full Text] [Related]

  • 10. 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 10; 23(12):2369-2377. PubMed ID: 34341521
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  • 12. 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 10; 76(1):76-84. PubMed ID: 19659762
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  • 15. Abnormal expressions of the subunits of the UDP-N-acetylglucosamine: lysosomal enzyme, N-acetylglucosamine-1-phosphotransferase, result in the formation of cytoplasmic vacuoles resembling those of the I-cells.
    Ho CY, Tang NL, Yeung AK, Lau AK, Hui J, Lo AW.
    J Mol Med (Berl); 2007 Apr 10; 85(4):351-60. PubMed ID: 17160405
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  • 16. 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 10; 65(11):971-984. PubMed ID: 32651481
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  • 18. 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 10; 35(3):368-76. PubMed ID: 24375680
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  • 19. Molecular analysis of cell lines from patients with mucolipidosis II and mucolipidosis III.
    Zarghooni M, Dittakavi SS.
    Am J Med Genet A; 2009 Dec 10; 149A(12):2753-61. PubMed ID: 19938078
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  • 20. Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC).
    Raas-Rothschild A, Cormier-Daire V, Bao M, Genin E, Salomon R, Brewer K, Zeigler M, Mandel H, Toth S, Roe B, Munnich A, Canfield WM.
    J Clin Invest; 2000 Mar 10; 105(5):673-81. PubMed ID: 10712439
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