Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 144

1.

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. Review.

PMID:
18425436
2.

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. Review.

PMID:
19945768
3.
4.

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
5.

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.

PMID:
15716021
7.

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.

PMID:
16200072
9.

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.

10.

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.

11.

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.

PMID:
24316125
12.

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
13.

Ultrastructural analysis of neuronal and non-neuronal lysosomal storage in mucolipidosis type II knock-in mice.

Schweizer M, Markmann S, Braulke T, Kollmann K.

Ultrastruct Pathol. 2013 Oct;37(5):366-72. doi: 10.3109/01913123.2013.810687.

PMID:
24047352
14.

The alpha- and beta-subunits of the human UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase [corrected] are encoded by a single cDNA.

Kudo M, Bao M, D'Souza A, Ying F, Pan H, Roe BA, Canfield WM.

J Biol Chem. 2005 Oct 28;280(43):36141-9. Erratum in: J Biol Chem. 2005 Dec 23;280(51):42476.

15.

Transport of the GlcNAc-1-phosphotransferase α/β-subunit precursor protein to the Golgi apparatus requires a combinatorial sorting motif.

Franke M, Braulke T, Storch S.

J Biol Chem. 2013 Jan 11;288(2):1238-49. doi: 10.1074/jbc.M112.407676.

16.

Subunit interactions of the disease-related hexameric GlcNAc-1-phosphotransferase complex.

De Pace R, Velho RV, Encarnação M, Marschner K, Braulke T, Pohl S.

Hum Mol Genet. 2015 Dec 1;24(23):6826-35. doi: 10.1093/hmg/ddv387.

PMID:
26385638
17.

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.

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;35(3):368-76. doi: 10.1002/humu.22502.

PMID:
24375680
19.

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
20.

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

Supplemental Content

Support Center