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Items: 1 to 20 of 112

1.

Compensatory expression of human N-acetylglucosaminyl-1-phosphotransferase subunits in mucolipidosis type III gamma.

Pohl S, Tiede S, Castrichini M, Cantz M, Gieselmann V, Braulke T.

Biochim Biophys Acta. 2009 Mar;1792(3):221-5. doi: 10.1016/j.bbadis.2009.01.009.

2.

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. doi: 10.1074/jbc.M114.612507. Epub 2014 Dec 11.

3.

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;76(1):76-84. doi: 10.1111/j.1399-0004.2009.01185.x.

PMID:
19659762
4.

Molecular analysis of the GlcNac-1-phosphotransferase.

Braulke T, Pohl S, Storch S.

J Inherit Metab Dis. 2008 Apr;31(2):253-7. doi: 10.1007/s10545-008-0862-5. Epub 2008 Apr 15. Review.

PMID:
18425436
6.

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. doi: 10.1016/j.gene.2013.11.010. Epub 2013 Dec 6.

PMID:
24316125
7.

A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site.

Tiede S, Cantz M, Raas-Rothschild A, Muschol N, Bürger F, Ullrich K, Braulke T.

Hum Mutat. 2004 Dec;24(6):535.

PMID:
15532026
8.

Loss of N-acetylglucosamine-1-phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: Implications for molecular and cellular diagnostics.

Pohl S, Encarnacão M, Castrichini M, Müller-Loennies S, Muschol N, Braulke T.

Am J Med Genet A. 2010 Jan;152A(1):124-32. doi: 10.1002/ajmg.a.33170.

PMID:
20034096
9.

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. doi: 10.1354/vp.46-2-313.

11.

Proteolytic processing of the gamma-subunit is associated with the failure to form GlcNAc-1-phosphotransferase complexes and mannose 6-phosphate residues on lysosomal enzymes in human macrophages.

Pohl S, Tiede S, Marschner K, Encarnação M, Castrichini M, Kollmann K, Muschol N, Ullrich K, Müller-Loennies S, Braulke T.

J Biol Chem. 2010 Jul 30;285(31):23936-44. doi: 10.1074/jbc.M110.129684. Epub 2010 May 19.

13.

Overexpression of mouse GlcNAc-1-phosphotransferase-gamma subunit in cells induced an I-cell-like phenotype of mucolipidosis.

Sun Q, Li J, Wang C, Huang X, Huang H, Du D, Liang Y, Han H.

Gene. 2005 Feb 28;347(1):55-64. Epub 2005 Jan 27.

PMID:
15716021
14.

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 4;111(9):3532-7. doi: 10.1073/pnas.1401417111. Epub 2014 Feb 18.

15.

A novel single-chain antibody fragment for detection of mannose 6-phosphate-containing proteins: application in mucolipidosis type II patients and mice.

Müller-Loennies S, Galliciotti G, Kollmann K, Glatzel M, Braulke T.

Am J Pathol. 2010 Jul;177(1):240-7. doi: 10.2353/ajpath.2010.090954. Epub 2010 May 14.

16.

Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype.

Tiede S, Muschol N, Reutter G, Cantz M, Ullrich K, Braulke T.

Am J Med Genet A. 2005 Sep 1;137A(3):235-40.

PMID:
16094673
17.

Mannose phosphorylation in health and disease.

Kollmann K, Pohl S, Marschner K, Encarnação M, Sakwa I, Tiede S, Poorthuis BJ, Lübke T, Müller-Loennies S, Storch S, Braulke T.

Eur J Cell Biol. 2010 Jan;89(1):117-23. doi: 10.1016/j.ejcb.2009.10.008. Epub 2009 Nov 28. Review.

PMID:
19945768
18.

Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase.

Tiede S, Storch S, Lübke T, Henrissat B, Bargal R, Raas-Rothschild A, Braulke T.

Nat Med. 2005 Oct;11(10):1109-12. Epub 2005 Oct 2.

PMID:
16200072
19.

The DMAP interaction domain of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase is a substrate recognition module.

Qian Y, Flanagan-Steet H, van Meel E, Steet R, Kornfeld SA.

Proc Natl Acad Sci U S A. 2013 Jun 18;110(25):10246-51. doi: 10.1073/pnas.1308453110. Epub 2013 Jun 3.

20.

Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma.

Persichetti E, Chuzhanova NA, Dardis A, Tappino B, Pohl S, Thomas NS, Rosano C, Balducci C, Paciotti S, Dominissini S, Montalvo AL, Sibilio M, Parini R, Rigoldi M, Di Rocco M, Parenti G, Orlacchio A, Bembi B, Cooper DN, Filocamo M, Beccari T.

Hum Mutat. 2009 Jun;30(6):978-84. doi: 10.1002/humu.20959.

PMID:
19370764

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