Marisa Alexandra Rego da Encarnação
AuthID: R-004-TQA
21
TITLE: Neurodegenerative Lysosomal Diseases Approached by Next Generation Sequencing
AUTHORS: Marisa Encarnação; Maria F Coutinho; Lisbeth Silva; Diogo Ribeiro; Célia Nogueira; Laura Vilarinho; Sandra Alves;
PUBLISHED: 2017, SOURCE: 21ª Reunião da Sociedade Portuguesa de Genética Humana, 16-18 novembro 2017
AUTHORS: Marisa Encarnação; Maria F Coutinho; Lisbeth Silva; Diogo Ribeiro; Célia Nogueira; Laura Vilarinho; Sandra Alves;
PUBLISHED: 2017, SOURCE: 21ª Reunião da Sociedade Portuguesa de Genética Humana, 16-18 novembro 2017
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Handle22
TITLE: A Rab3a-dependent complex essential for lysosome positioning and plasma membrane repair
AUTHORS: Encarnação, M; Espada, L; Escrevente, C; Mateus, D; Ramalho, J; Michelet, X; Santarino, I; Hsu, VW; Brenner, MB; Barral, DC; Vieira, OV;
PUBLISHED: 2016, SOURCE: Journal of Cell Biology, VOLUME: 213, ISSUE: 6
AUTHORS: Encarnação, M; Espada, L; Escrevente, C; Mateus, D; Ramalho, J; Michelet, X; Santarino, I; Hsu, VW; Brenner, MB; Barral, DC; Vieira, OV;
PUBLISHED: 2016, SOURCE: Journal of Cell Biology, VOLUME: 213, ISSUE: 6
23
TITLE: Solving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III alpha/beta
AUTHORS: Coutinho, MF; Encarnacao, M; Laranjeira, F ; Lacerda, L; Prata, MJ ; Alves, S;
PUBLISHED: 2016, SOURCE: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, VOLUME: 29, ISSUE: 10
AUTHORS: Coutinho, MF; Encarnacao, M; Laranjeira, F ; Lacerda, L; Prata, MJ ; Alves, S;
PUBLISHED: 2016, SOURCE: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, VOLUME: 29, ISSUE: 10
24
TITLE: Subunit interactions of the disease-related hexameric GlcNAc-1-phosphotransferase complex
AUTHORS: Raffaella De Pace; Renata Voltolini Velho; Marisa Encarnação; Katrin Marschner; Thomas Braulke; Sandra Pohl;
PUBLISHED: 2015, SOURCE: Human Molecular Genetics, VOLUME: 24, ISSUE: 23
AUTHORS: Raffaella De Pace; Renata Voltolini Velho; Marisa Encarnação; Katrin Marschner; Thomas Braulke; Sandra Pohl;
PUBLISHED: 2015, SOURCE: Human Molecular Genetics, VOLUME: 24, ISSUE: 23
25
TITLE: Leber’s hereditary optic neuropathy – Molecular study of 540 Portuguese patients
AUTHORS: Sofia Esteves; Célia Nogueira; Teresinha Evangelista; Marisa Encarnação; Marco Teixeira; Raquel Neiva; Cristina Pereira; Laura Vilarinho;
PUBLISHED: 2012, VOLUME: 5
AUTHORS: Sofia Esteves; Célia Nogueira; Teresinha Evangelista; Marisa Encarnação; Marco Teixeira; Raquel Neiva; Cristina Pereira; Laura Vilarinho;
PUBLISHED: 2012, VOLUME: 5
INDEXED IN: Handle
Handle26
TITLE: Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity Full Text
AUTHORS: Coutinho, MF; Encarnacao, M; Gomes, R; da Silva Santos, LDS; Martins, S ; Sirois Gagnon, D; Bargal, R; Filocamo, M; Raas Rothschild, A; Tappino, B; Laprise, C; Cury, GK; Schwartz, IV; Artigalas, O; Prata, MJ ; Alves, S;
PUBLISHED: 2011, SOURCE: CLINICAL GENETICS, VOLUME: 80, ISSUE: 3
AUTHORS: Coutinho, MF; Encarnacao, M; Gomes, R; da Silva Santos, LDS; Martins, S ; Sirois Gagnon, D; Bargal, R; Filocamo, M; Raas Rothschild, A; Tappino, B; Laprise, C; Cury, GK; Schwartz, IV; Artigalas, O; Prata, MJ ; Alves, S;
PUBLISHED: 2011, SOURCE: CLINICAL GENETICS, VOLUME: 80, ISSUE: 3
27
TITLE: Post-translational modifications of the γ-subunit affect intracellular trafficking and complex assembly of GlcNAc-1-phosphotransferase
AUTHORS: Marisa Encarnação; Katrin Kollmann; Maria Trusch; Thomas Braulke; Sandra Pohl;
PUBLISHED: 2011, SOURCE: Journal of Biological Chemistry, VOLUME: 286, ISSUE: 7
AUTHORS: Marisa Encarnação; Katrin Kollmann; Maria Trusch; Thomas Braulke; Sandra Pohl;
PUBLISHED: 2011, SOURCE: Journal of Biological Chemistry, VOLUME: 286, ISSUE: 7
28
TITLE: Proteolytic processing of the γ-subunit is associated with the failure to form GlcNAc-1-phosphotransferase complexes and mannose 6-phosphate residues on lysosomal enzymes in human macrophages
AUTHORS: Sandra Pohl; Stephan Tiede; Katrin Marschner; Marisa Encarnação; Monica Castrichini; Katrin Kollmann; Nicole Muschol; Kurt Ullrich; Sven Müller Loennies; Thomas Braulke;
PUBLISHED: 2010, SOURCE: Journal of Biological Chemistry, VOLUME: 285, ISSUE: 31
AUTHORS: Sandra Pohl; Stephan Tiede; Katrin Marschner; Marisa Encarnação; Monica Castrichini; Katrin Kollmann; Nicole Muschol; Kurt Ullrich; Sven Müller Loennies; Thomas Braulke;
PUBLISHED: 2010, SOURCE: Journal of Biological Chemistry, VOLUME: 285, ISSUE: 31
29
TITLE: 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
AUTHORS: Sandra Pohl; Marisa Encarnação; Monica Castrichini; Sven Müller Loennies; Nicole Muschol; Thomas Braulke;
PUBLISHED: 2010, SOURCE: American Journal of Medical Genetics, Part A, VOLUME: 152, ISSUE: 1
AUTHORS: Sandra Pohl; Marisa Encarnação; Monica Castrichini; Sven Müller Loennies; Nicole Muschol; Thomas Braulke;
PUBLISHED: 2010, SOURCE: American Journal of Medical Genetics, Part A, VOLUME: 152, ISSUE: 1
30
TITLE: Mannose phosphorylation in health and disease
AUTHORS: Katrin Kollmann; Sandra Pohl; Katrin Marschner; Marisa Encarnação; Imme Sakwa; Stephan Tiede; Ben J Poorthuis; Torben Lübke; Sven Müller Loennies; Stephan Storch; Thomas Braulke;
PUBLISHED: 2010, SOURCE: European Journal of Cell Biology, VOLUME: 89, ISSUE: 1
AUTHORS: Katrin Kollmann; Sandra Pohl; Katrin Marschner; Marisa Encarnação; Imme Sakwa; Stephan Tiede; Ben J Poorthuis; Torben Lübke; Sven Müller Loennies; Stephan Storch; Thomas Braulke;
PUBLISHED: 2010, SOURCE: European Journal of Cell Biology, VOLUME: 89, ISSUE: 1
