Encarnação M - Search Results

1

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

2

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.

3

Cholesteryl hemiesters alter lysosome structure and function and induce proinflammatory cytokine production in macrophages.

Domingues N, Estronca LMBB, Silva J, Encarnação MR, Mateus R, Silva D, Santarino IB, Saraiva M, Soares MIL, Pinho E Melo TMVD, Jacinto A, Vaz WLC, Vieira OV. Domingues N, et al. Among authors: encarnacao mr. Biochim Biophys Acta Mol Cell Biol Lipids. 2017 Feb;1862(2):210-220. doi: 10.1016/j.bbalip.2016.10.009. Epub 2016 Oct 26. Biochim Biophys Acta Mol Cell Biol Lipids. 2017. PMID: 27793708 Free article.

4

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

5

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

6

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

7

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.

8

Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants.

Encarnação M, Coutinho MF, Silva L, Ribeiro D, Ouesleti S, Campos T, Santos H, Martins E, Cardoso MT, Vilarinho L, Alves S. Encarnação M, et al. Int J Mol Sci. 2020 Sep 1;21(17):6355. doi: 10.3390/ijms21176355. Int J Mol Sci. 2020. PMID: 32883051 Free PMC article.

9

NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann-Pick type C patient.

Encarnação M, Coutinho MF, Cho SM, Cardoso MT, Ribeiro I, Chaves P, Santos JI, Quelhas D, Lacerda L, Leão Teles E, Futerman AH, Vilarinho L, Alves S. Encarnação M, et al. Mol Genet Genomic Med. 2020 Nov;8(11):e1451. doi: 10.1002/mgg3.1451. Epub 2020 Sep 15. Mol Genet Genomic Med. 2020. PMID: 32931663 Free PMC article.

10

Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A Key Step towards Understanding and Treating Mucopolysaccharidoses.

Carvalho S, Santos JI, Moreira L, Gonçalves M, David H, Matos L, Encarnação M, Alves S, Coutinho MF. Carvalho S, et al. Among authors: encarnacao m. Biomedicines. 2023 Apr 21;11(4):1234. doi: 10.3390/biomedicines11041234. Biomedicines. 2023. PMID: 37189853 Free PMC article. Review.

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