Encarnação M - Search Results

1

Post-translational modifications of the gamma-subunit affect intracellular trafficking and complex assembly of GlcNAc-1-phosphotransferase.

Encarnação M, Kollmann K, Trusch M, Braulke T, Pohl S. Encarnação M, et al. J Biol Chem. 2011 Feb 18;286(7):5311-8. doi: 10.1074/jbc.M110.202382. Epub 2010 Dec 20. J Biol Chem. 2011. PMID: 21173149 Free PMC article.

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. Kollmann K, et al. Among authors: encarnacao m. Eur J Cell Biol. 2010 Jan;89(1):117-23. doi: 10.1016/j.ejcb.2009.10.008. Epub 2009 Nov 28. Eur J Cell Biol. 2010. PMID: 19945768 Review.

3

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. Pohl S, et al. Among authors: encarnacao m. Am J Med Genet A. 2010 Jan;152A(1):124-32. doi: 10.1002/ajmg.a.33170. Am J Med Genet A. 2010. PMID: 20034096

4

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. Pohl S, et al. Among authors: encarnacao m. J Biol Chem. 2010 Jul 30;285(31):23936-44. doi: 10.1074/jbc.M110.129684. Epub 2010 May 19. J Biol Chem. 2010. PMID: 20489197 Free PMC article.

5

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

De Pace R, Velho RV, Encarnação M, Marschner K, Braulke T, Pohl S. De Pace R, et al. Among authors: encarnacao m. Hum Mol Genet. 2015 Dec 1;24(23):6826-35. doi: 10.1093/hmg/ddv387. Epub 2015 Sep 18. Hum Mol Genet. 2015. PMID: 26385638

6

Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity.

Coutinho MF, Encarnação M, Gomes R, da Silva Santos L, Martins S, Sirois-Gagnon D, Bargal R, Filocamo M, Raas-Rothschild A, Tappino B, Laprise C, Cury GK, Schwartz IV, Artigalás O, Prata MJ, Alves S. Coutinho MF, et al. Among authors: encarnacao m. Clin Genet. 2011 Sep;80(3):273-80. doi: 10.1111/j.1399-0004.2010.01539.x. Epub 2010 Sep 29. Clin Genet. 2011. PMID: 20880125

7

Solving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III alpha/beta.

Coutinho MF, Encarnação M, Laranjeira F, Lacerda L, Prata MJ, Alves S. Coutinho MF, et al. Among authors: encarnacao m. J Pediatr Endocrinol Metab. 2016 Oct 1;29(10):1225-1228. doi: 10.1515/jpem-2016-0173. J Pediatr Endocrinol Metab. 2016. PMID: 27710913

8

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. Encarnação M, et al. Clin Genet. 2009 Jul;76(1):76-84. doi: 10.1111/j.1399-0004.2009.01185.x. Clin Genet. 2009. PMID: 19659762

9

A Rab3a-dependent complex essential for lysosome positioning and plasma membrane repair.

Encarnação M, Espada L, Escrevente C, Mateus D, Ramalho J, Michelet X, Santarino I, Hsu VW, Brenner MB, Barral DC, Vieira OV. Encarnação M, et al. J Cell Biol. 2016 Jun 20;213(6):631-40. doi: 10.1083/jcb.201511093. J Cell Biol. 2016. PMID: 27325790 Free PMC article.

10

Molecular Characterization of a Novel Splicing Mutation underlying Mucopolysaccharidosis (MPS) type VI-Indirect Proof of Principle on Its Pathogenicity.

Coutinho MF, Encarnação M, Matos L, Silva L, Ribeiro D, Santos JI, Prata MJ, Vilarinho L, Alves S. Coutinho MF, et al. Among authors: encarnacao m. Diagnostics (Basel). 2020 Jan 21;10(2):58. doi: 10.3390/diagnostics10020058. Diagnostics (Basel). 2020. PMID: 31973102 Free PMC article.

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