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LYSOSOMAL STORAGE DISORDERS, FUNCTIONAL STUDIES, NEXT GENERATION SEQUENCING, LENTIVIRAL shRNA LIBRARIES - HIGH THROUGHPUT SCREENINGS, LYSOSOME POSITIONING AND RAB PROTEINS

Activities

Employment (5)

National Institute of Health Dr. Ricardo Jorge: Porto, PT

2017-11 to present | Postdoc Fellow (Human Genetics Department)
Employment
Source: Self-asserted source
Marisa Encarnação

Universidade do Porto Instituto de Biologia Molecular e Celular: Porto, PT

2012-01 to 2013-09 | Postdoc (Laboratory of Microbiology and Immunology of Infection)
Employment
Source: Self-asserted source
Marisa Encarnação

Brigham and Women's Hospital: Boston, MA, US

2012-07 to 2012-12 | Visiting Research Fellow (Division of Rheumatology, Immunology and Allergy)
Employment
Source: Self-asserted source
Marisa Encarnação

Universitätsklinikum Hamburg-Eppendorf: Hamburg, Hamburg, DE

2008-03 to 2011-07 | PhD Student (Member of The Research Training Group 1459 - Sorting and Interactions between Proteins of Subcellular Compartments) (Department of Biochemistry - Children´s Hospital)
Employment
Source: Self-asserted source
Marisa Encarnação

Instituto de Genetica Medica Jacinto Magalhaes: Porto, PT

2004-10 to 2007-12 | Senior Technician (Clinical Biology)
Employment
Source: Self-asserted source
Marisa Encarnação

Education and qualifications (3)

Universitat Hamburg: Hamburg, DE

2008-05-02 to 2011-07-22 | PhD
Education
Source: Self-asserted source
Marisa Encarnação

Universidade de Aveiro: Aveiro, PT

2006 to 2007 | Master
Education
Source: Self-asserted source
Marisa Encarnação

Universidade do Porto: Porto, PT

1998 to 2003
Education
Source: Self-asserted source
Marisa Encarnação

Funding (8)

Development of a Genetic Substrate Reduction Therapy for MPS III using Antisense Oligonucleotides as therapeutic agents

2023-03-01 to 2024-08-31 | Contract
Fundação para a Ciência e a Tecnologia (Lisboa, PT)
GRANT_NUMBER:

2022.04667.PTDC

Source: check_circle
CIÊNCIAVITAE

New models for the most frequent Mucolipidosis II-causing mutation using iPSCs and zebrafish: a crucial step towards the development of new therapies

2023-03-01 to 2024-08-31 | Contract
Fundação para a Ciência e a Tecnologia (Lisboa, PT)
GRANT_NUMBER:

2022.03836.PTDC

Source: check_circle
CIÊNCIAVITAE

RNA-Seq based methods to identify novel disease biomarkers in neurodegenerative metabolic diseases

2022-01-02 to 2023-06-30 | Contract
Fundação para a Ciência e a Tecnologia (Lisboa, PT)
GRANT_NUMBER:

EXPL/BTM-TEC/1477/2021

Source: check_circle
CIÊNCIAVITAE

Neurological disease modeling for Sanfilippo: a key step towards understanding and treating a rare genetic disorder

2022-01-01 to 2023-12-31 | Contract
Fundação para a Ciência e a Tecnologia (Lisboa, PT)
GRANT_NUMBER:

EXPL/BTM-SAL/0659/2021

Source: check_circle
CIÊNCIAVITAE

Associate Laboratory for Animal and Veterinary Sciences

2021-01-01 to 2025-12-31 | Contract
Fundação para a Ciência e a Tecnologia (Lisboa, PT)
GRANT_NUMBER:

LA/P/0059/2020

Source: check_circle
CIÊNCIAVITAE

Center for the Study of Animal Science

2019-01-01 to 2019-12-31 | Contract
Fundação para a Ciência e a Tecnologia (Lisboa, PT)
GRANT_NUMBER:

UID/Multi/00211/2019

Source: check_circle
CIÊNCIAVITAE

iNOVA4Health - Programme in Translational Medicine (iBET, CEDOC/FCM, IPOLFG and ITQB)

2019-01-01 to 2019-12-31 | Contract
Fundação para a Ciência e a Tecnologia (Lisboa, PT)
GRANT_NUMBER:

UID/Multi/04462/2019

Source: check_circle
CIÊNCIAVITAE

DECIPHERING THE MOLECULAR MECHANISMS INVOLVED PLASMA MEMBRANE REPAIR IN MYCOBACTERIUM TUBERCULOSIS-INFECTED MACROPHAGES

2013-01-01 to 2015-12-31 | Grant
Fundação para a Ciência e a Tecnologia (Lisboa, PT)
GRANT_NUMBER:

SFRH/BPD/87085/2012

Source: check_circle
CIÊNCIAVITAE

Works (50 of 54)

Items per page:
Page 1 of 2

Investigating p.Ala1035Val in NPC1: New Cellular Models for Niemann–Pick Type C Disease

International Journal of Molecular Sciences
2024-11 | Journal article | Author
Contributors: Hugo David; Jlenia Monfregola; Isaura Ribeiro; Maria Teresa Cardoso; Ana Catarina Assunção Sandiares; Luciana Moreira; Maria Francisca Coutinho; Dulce Quelhas; Andrea Ballabio; Alves S et al.
Source: check_circle
Multidisciplinary Digital Publishing Institute

Modeling Lysosomal Storage Disorders in an Innovative Way: Establishment and Characterization of Stem Cell Lines from Human Exfoliated Deciduous Teeth of Mucopolysaccharidosis Type II Patients

International Journal of Molecular Sciences
2024-03-21 | Journal article
Contributors: Sofia Carvalho; Juliana Inês Santos; Luciana Moreira; Ana Joana Duarte; Paulo Gaspar; Hugo Rocha; Marisa Encarnação; Diogo Ribeiro; Matilde Barbosa Almeida; Mariana Gonçalves et al.
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Crossref
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Modelling Lysosomal Storage Disorders in an innovative way: Establishment and Characterization of Stem Cell Lines from Human Exfoliated Deciduous Teeth of Mucopolysaccharidoses Type II Patients

2024-02-29 | Preprint
Contributors: Sofia Carvalho; Juliana Inês Santos; Luciana Moreira; Ana Joana Duarte; Paulo Gaspar; Hugo Rocha; Marisa Encarnação; Diogo Ribeiro; Matilde Barbosa Almeida; Mariana Gonçalves et al.
Source: check_circle
Crossref
grade
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Help Comes from Unexpected Places: How a Tiny Fairy and a TropicalFish may help us Model Mucopolysaccharidoses

2023 | Conference paper
SOURCE-WORK-ID:

cv-prod-id-3983304

Contributors: Carvalho, Sofia; Moreira, Luciana; Santos, Juliana Inês; Gaspar, Paulo; Gonçalves, Mariana; Matos, Liliana; David, Hugo; et al.
Source: check_circle
CIÊNCIAVITAE

Challenges in the Definitive Diagnosis of Niemann–Pick Type C—Leaky Variants and Alternative Transcripts

Genes
2023-10-25 | Journal article
Contributors: Marisa Encarnação; Isaura Ribeiro; Hugo David; Maria Francisca Coutinho; Dulce Quelhas; Sandra Alves
Source: check_circle
Crossref
grade
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MicroRNA Profile, Putative Diagnostic Biomarkers and RNA-Based Therapies in the Inherited Lipid Storage Disease Niemann-Pick Type C

Biomedicines
2023-09-23 | Journal article
Contributors: Marisa Encarnação; Hugo David; Maria Francisca Coutinho; Luciana Moreira; Sandra Alves
Source: check_circle
Crossref
grade
Preferred source (of 3)‎

Exosomal microRNAs as possible biomarkers for a rare disease affecting lipids

2nd Meeting of the Portuguese Network on Extracellular Vesicles
2023-06-23 | Conference poster
SOURCE-WORK-ID:

cv-prod-id-4113768

Contributors: Encarnação, Marisa
Source: check_circle
CIÊNCIAVITAE

The disease modelling value of a folklore FAIRYtale: SHEDing light over a special group of genetic disorders

2ndMeeting of the Associate Laboratory for Animal and Veterinary Sciences (AL4AnimalS)
2023-05 | Conference poster
SOURCE-WORK-ID:

cv-prod-id-3698395

Contributors: Carvalho, Sofia; Santos, Juliana Inês; Moreira, L; Gaspar, Paulo; Gonçalves, Mariana; Matos, Liliana; David, Hugo; et al.
Source: check_circle
CIÊNCIAVITAE

RNARARE - understanding RNA in Niemann-Pick type C disease

Lysosomal Diseases Gordon Research Conference
2023-05-14 | Conference poster
SOURCE-WORK-ID:

cv-prod-id-4113609

Contributors: Encarnação, Marisa
Source: check_circle
CIÊNCIAVITAE

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

2023-03-31 | Preprint
Contributors: Sofia Carvalho; Juliana Inês Santos; Luciana Moreira; Mariana Gonçalves; Hugo David; Liliana Matos; Marisa Encarnação; Sandra Alves; Maria Francisca Coutinho
Source: check_circle
Crossref
grade
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Molecular profile and peripheral markers of neurodegeneration in patients with Niemann-Pick type C: Decrease in Plasminogen Activator Inhibitor type 1 and Platelet-Derived Growth Factor type AA

Archives of Biochemistry and Biophysics
2023-02 | Journal article
SOURCE-WORK-ID:

cv-prod-id-3688358

Contributors: Hammerschmidt, Tatiane Grazieli; Encarnação, Marisa; Lamberty Faverzani, Jéssica; de Fátima Lopes, Franciele; Poswar de Oliveira, Fabiano; Fischinger Moura de Sousa, Carolina; Ribeiro, Isaura; et al.
Source: check_circle
CIÊNCIAVITAE

Pluripotent cells and zebrafish: two complementary platforms for modelling Lysosomal Storage Disorders

CIISA Congress 2022
2022 | Conference poster
SOURCE-WORK-ID:

cv-prod-id-3698394

Contributors: Moreira, L; Maria Francisca Coutinho; Carvalho, Sofia; Duarte, Ana Joana; Ribeiro, Diogo; Santos, Juliana Inês; Gonçalves, Mariana; et al. Corresponding author: Moreira, L.
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CIÊNCIAVITAE

"The disease modelling value of baby teeth: a new way to unlock knowledge about a special group of genetic disorders"

Dia do Jovem Investigador INSA
2022-11 | Conference poster
SOURCE-WORK-ID:

cv-prod-id-3698392

Contributors: CARVALHO, SOFIA; Santos, Juliana Inês; Moreira, L; Gaspar, Paulo; Gonçalves, Mariana; Matos, Liliana; Encarnação, Marisa; et al.
Source: check_circle
CIÊNCIAVITAE

"When folklore meets science: the 21st century baby teeth collector that is helping us SHED light over rare genetic disorders"

26th Annual Meeting Sociedade Portuguesa de Genética Humana
2022-11 | Conference poster
SOURCE-WORK-ID:

cv-prod-id-3698393

Contributors: CARVALHO, SOFIA; Santos, Juliana Inês; Moreira, L; Gaspar, Paulo; Gonçalves, Mariana; Matos, Liliana; Encarnação, Marisa; et al.
Source: check_circle
CIÊNCIAVITAE

Generation of mice expressing in the liver human splicing mutations: a good model to test in vivo the therapeutic efficacy of modified U1 snRNAs for Mucopolysaccharidosis type IIIC

26th Annual Meeting Sociedade Portuguesa de Genética Humana
2022-11 | Conference poster
SOURCE-WORK-ID:

cv-prod-id-4101322

Contributors: Carvalho, Sofia; Santos, Juliana Inês; Moreira, Luciana; Gaspar, Paulo; Gonçalves, Mariana; Matos, Liliana; Encarnação, Marisa; et al. Corresponding author: Carvalho, Sofia.
Source: check_circle
CIÊNCIAVITAE

"Baby Teeth patient-derived stem cells: an innovative model to SHED light over MPS pathology"

ESGLD
2022-09 | Conference poster
SOURCE-WORK-ID:

cv-prod-id-3698390

Contributors: Carvalho, Sofia; Santos, Juliana Inês; Moreira, L; Gaspar, Paulo; Gonçalves, Mariana; Matos, Liliana; Encarnação, Marisa; et al.
Source: check_circle
CIÊNCIAVITAE

"Help comes from unexpected places: how a tiny fairy and a tropical fish may help us model Mucopolysaccharidosis type III"

ESGLD
2022-09 | Conference poster
SOURCE-WORK-ID:

cv-prod-id-3698391

Contributors: CARVALHO, SOFIA; Santos, Juliana Inês; Moreira, L; Gaspar, Paulo; Gonçalves, Mariana; Matos, Liliana; Encarnação, Marisa; et al.
Source: check_circle
CIÊNCIAVITAE

"Urine Stem Cells as a potential in vitro model for Mucolipidosis type II"

III International Meeting of the Portuguese Society of Genetics
2022-06 | Conference poster
SOURCE-WORK-ID:

cv-prod-id-3698389

Contributors: Moreira, L; Santos, Juliana Inês; Gonçalves, Mariana; Carvalho, Sofia; Encarnação, Marisa; Matos, Liliana; Maria Francisca Coutinho; Alves, Sandra
Source: check_circle
CIÊNCIAVITAE

Preliminary characterization of lysosomal-related genes in two Tay-Sachs variant B1 fibroblast cell lines

25ª Reunião Anual da SPGH
2021-11-18 | Conference poster
SOURCE-WORK-ID:

cv-prod-id-3698388

Contributors: Ribeiro, Diogo; Amaral, Olga; Encarnação, Marisa; Silva, Lisbeth; Alves, Sandra; Corresponding author: Amaral, Olga.
Source: check_circle
CIÊNCIAVITAE

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

Molecular Genetics & Genomic Medicine
2020-11 | Journal article
Contributors: Marisa Encarnação; Maria Francisca Coutinho; Soo Min Cho; Maria Teresa Cardoso; Isaura Ribeiro; Paulo Chaves; Juliana Inês Santos; Dulce Quelhas; Lúcia Lacerda; Elisa Leão Teles et al.
Source: check_circle
Crossref
grade
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Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants

International Journal of Molecular Sciences
2020-09-01 | Journal article
Contributors: Marisa Encarnação; Maria Francisca Coutinho; Lisbeth Silva; Diogo Ribeiro; Souad Ouesleti; Teresa Campos; Helena Santos; Esmeralda Martins; Maria Teresa Cardoso; Laura Vilarinho et al.
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Crossref
grade
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Molecular Characterization of a Novel Splicing Mutation Underlying Mucopolysaccharidosis (MPS) Type VI—Indirect Proof of Principle on Its Pathogenicity

Diagnostics
2020-01-21 | Journal article
Contributors: Maria Francisca Coutinho; Marisa Encarnação; Liliana Matos; Lisbeth Silva; Diogo Ribeiro; Juliana Inês Santos; Maria João Prata; Laura Vilarinho; Sandra Alves
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Crossref
grade
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Assessing Niemann-Pick Type C (NP-C) through a multi-omics approach genomic and transcriptomic profile of challenging cases

2019 | Conference paper
SOURCE-WORK-ID:

cv-prod-id-3698387

Contributors: Encarnação, Marisa; Coutinho, Maria Francisca; Cho, Soo-Min; Cardoso, Maria Teresa; Chaves, Paulo; Ribeiro, Isaura; Santos, Juliana Inês; et al.
Source: check_circle
CIÊNCIAVITAE

Genomics and transcriptomics approach - diagnosis of a challenging case of Niemann-Pick type C (NP-C)

2019 | Conference paper
SOURCE-WORK-ID:

cv-prod-id-3698385

Contributors: Encarnação, Marisa; Coutinho, Maria Francisca; Cho, Soo-Min; Cardoso, Maria Teresa; Chaves, Paulo; Gaspar, Paulo; Santos, Juliana Inês; et al.
Source: check_circle
CIÊNCIAVITAE

Transcriptomics profiling of Niemann-Pick type C patients: activation of the unfold protein response in a specific case

2019 | Conference paper
SOURCE-WORK-ID:

cv-prod-id-3698386

Contributors: Encarnação, Marisa; Coutinho, Maria Francisca; Cho, Soo-Min; Cardoso, Maria Teresa; Chaves, Paulo; Gaspar, Paulo; Santos, Juliana Inês; et al.
Source: check_circle
CIÊNCIAVITAE

DEScobrir, VENcer as Doenças rARas.

Boletim Epidemiológico Observações
2019-01-06 | Newsletter article
SOURCE-WORK-ID:

cv-prod-id-3698384

Contributors: Nogueira, Célia; Silva, Lisbeth; Pereira, Cristina; Lopes, Altina; Encarnação, Marisa; Coutinho, Maria Francisca; Amaral, Olga; Alves, Sandra; Vilarinho, Laura
Source: check_circle
CIÊNCIAVITAE

Avanços no diagnóstico das doenças mitocondriais através da sequenciação de nova geração

2018 | Other
SOURCE-WORK-ID:

cv-prod-id-782198

OTHER-ID:

Boletim Epidemiológico Observações. 2018 janeiro-abril;7(21):5-8

Contributors: Célia, Nogueira; Pereira, Cristina; Silva, Lisbeth; Encarnação, Marisa; Teles, Elisa Leão; Rodrigues, Esmeralda; Campos, Teresa; et al.
Source: check_circle
CIÊNCIAVITAE

Desenvolvimento de um ensaio de sequenciação de nova geração para acelerar o diagnóstico molecular das doenças lisossomais de sobrecarga

2018 | Other
SOURCE-WORK-ID:

cv-prod-id-782197

OTHER-ID:

0874-29282182-8873 (em linha)

OTHER-ID:

Boletim Epidemiológico Observações. 2018 maio-agosto;7(22):34-37

Contributors: Encarnação, Marisa; Coutinho, Maria Francisca; Silva, Lisbeth; Matos, Liliana; Ribeiro, Diogo; Nogueira, Célia; Gaspar, Paulo; Vilarinho, Laura; Alves, Sandra
Source: check_circle
CIÊNCIAVITAE

Development of a next generation sequencing assay for a prompt molecular diagnosis of lysosomal storage disorders.

Boletim Epidemiológico Observações. 2018 maio-agosto
2018-07-26 | Newsletter article
SOURCE-WORK-ID:

cv-prod-id-3698382

Contributors: Encarnação, Marisa; Coutinho, Maria Francisca; Silva, Lisbeth; Matos, Liliana; Ribeiro, Diogo; Nogueira, Célia; Gaspar, Paulo; Vilarinho, Laura; Alves, Sandra
Source: check_circle
CIÊNCIAVITAE

Molecular Characterization of a Novel Mucopolysaccharidosis (MPS) type VI-causing Mutation ¿ Indirect Proof of Principle on its Pathogenicity.

14th International Symposium SPDM
2018-03 | Conference poster
SOURCE-WORK-ID:

cv-prod-id-3698381

Contributors: Coutinho, Maria Francisca; Encarnação, Marisa; Santos, Juliana; Alves, Sandra
Source: check_circle
CIÊNCIAVITAE

Molecular Characterization of a Novel Mucopolysaccharidosis type VIcausing Mutation - Indirect Proof of Principle on its Pathogenicity

2017 | Conference paper
SOURCE-WORK-ID:

cv-prod-id-782202

Contributors: Coutinho, Maria Francisca; Encarnação, Marisa; Santos, Juliana Inês; Alves, Sandra
Source: check_circle
CIÊNCIAVITAE

Neurodegenerative Lysosomal Diseases Approached by Next Generation Sequencing

2017 | Conference poster
SOURCE-WORK-ID:

cv-prod-id-3698380

Contributors: Encarnação, Marisa; Coutinho, Maria Francisca; Silva, Lisbeth; Ribeiro, Diogo; Nogueira, Célia; Vilarinho, Laura; Alves, Sandra
Source: check_circle
CIÊNCIAVITAE

Development of next generation sequencing (NGS) gene panel for lysosomal storage diseases.

13th International Symposium of SPDM.
2017-03-17 | Conference poster
SOURCE-WORK-ID:

cv-prod-id-3698383

Contributors: Coutinho, Maria Francisca; Encarnação, Marisa; Nogueira, Célia; Silva, Lisbeth; et al.
Source: check_circle
CIÊNCIAVITAE

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

Journal of Cell Biology
2016 | Journal article
EID:

2-s2.0-84975456515

Contributors: Encarnação, M.; Espada, L.; Escrevente, C.; Mateus, D.; Ramalho, J.; Michelet, X.; Santarino, I.; Hsu, V.W.; Brenner, M.B.; Barral, D.C. et al.
Source: Self-asserted source
Marisa Encarnação via Scopus - Elsevier
grade
Preferred source (of 2)‎

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

Journal of Pediatric Endocrinology and Metabolism
2016 | Journal article
EID:

2-s2.0-84990932706

Contributors: Coutinho, M.F.; Encarnação, M.; Laranjeira, F.; Lacerda, L.; Prata, M.J.; Alves, S.
Source: Self-asserted source
Marisa Encarnação via Scopus - Elsevier
grade
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Cholesteryl hemiesters alter lysosome structure and function and induce proinflammatory cytokine production in macrophages.

Biochimica et biophysica acta. Molecular and cell biology of lipids
2016-10 | Journal article
Contributors: Domingues N; Estronca LMBB; Silva J; Encarnação MR; Mateus R; Silva D; Santarino IB; Saraiva M; Soares MIL; Pinho E Melo TMVD et al.
Source: Self-asserted source
Marisa Encarnação via Europe PubMed Central
grade
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Subunit interactions of the disease-related hexameric GlcNAc-1-phosphotransferase complex

Human molecular genetics
2015 | Journal article
EID:

2-s2.0-84964582070

Contributors: De Pace, R.; Velho, R.V.; Encarnação, M.; Marschner, K.; Braulke, T.; Pohl, S.
Source: Self-asserted source
Marisa Encarnação via Scopus - Elsevier
grade
Preferred source (of 2)‎

Leber’s hereditary optic neuropathy – Molecular study of 540 Portuguese patients

2012 | Other
SOURCE-WORK-ID:

cv-prod-id-782191

OTHER-ID:

Current Topics in Genetics 2012;5:11-18

Part of ISSN: 0972-8236
Contributors: Esteves, Sofia; Nogueira, Célia; Evangelista, Teresinha; Encarnação, Marisa; Teixeira, Marco; Neiva, Raquel; Pereira, Cristina; Vilarinho, Laura
Source: check_circle
CIÊNCIAVITAE

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

Clinical Genetics
2011 | Journal article
EID:

2-s2.0-79961115962

Contributors: Coutinho, M.; Encarnação, M.; Gomes, R.; da Silva Santos, L.; Martins, S.; Sirois-Gagnon, D.; Bargal, R.; Filocamo, M.; Raas-Rothschild, A.; Tappino, B. et al.
Source: Self-asserted source
Marisa Encarnação via Scopus - Elsevier
grade
Preferred source (of 2)‎

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

Journal of Biological Chemistry
2011 | Journal article
EID:

2-s2.0-79953159702

Contributors: Encarnação, M.; Kollmann, K.; Trusch, M.; Braulke, T.; Pohl, S.
Source: Self-asserted source
Marisa Encarnação via Scopus - Elsevier
grade
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Structural requirements of the ¿-subunit for assembly and intracellular transport of the GlcNAc-1-phosphotransferase

2011-07 | Dissertation/Thesis
SOURCE-WORK-ID:

cv-prod-id-4113414

Source: check_circle
CIÊNCIAVITAE

Evidences of large deletions in patients with the Lysosomal Storage Diseases Mucolipidosis type II and III: experimental approaches for picking up both homozygous and heterozygous cases

2010 | Conference paper
SOURCE-WORK-ID:

cv-prod-id-782195

Contributors: Coutinho, Maria Francisca; Encarnação, Marisa; Carvalho, Filipa; Lacerda, Lúcia; Willbrand, Flemming; Ribeiro, Helena; Prata, Maria João; Alves, Sandra
Source: check_circle
CIÊNCIAVITAE

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

American Journal of Medical Genetics, Part A
2010 | Journal article
EID:

2-s2.0-75149142903

Contributors: Pohl, S.; Encarnação, M.; Castrichini, M.; Müller-Loennies, S.; Muschol, N.; Braulke, T.
Source: Self-asserted source
Marisa Encarnação via Scopus - Elsevier
grade
Preferred source (of 2)‎

Mannose phosphorylation in health and disease

European Journal of Cell Biology
2010 | Journal article
EID:

2-s2.0-73649118123

Contributors: Kollmann, K.; Pohl, S.; Marschner, K.; Encarnação, M.; Sakwa, I.; Tiede, S.; Poorthuis, B.J.; Lübke, T.; Müller-Loennies, S.; Storch, S. et al.
Source: Self-asserted source
Marisa Encarnação via Scopus - Elsevier
grade
Preferred source (of 2)‎

Novel method for picking up large heterozygous deletions with semiquantitative PCR in patients with mucolipidosis III alpha/beta

2010 | Conference paper
SOURCE-WORK-ID:

cv-prod-id-782192

Contributors: Coutinho, Maria Francisca; Encarnação, Marisa; Lacerda, Lúcia; Ribeiro, Helena; Prata, Maria João; Alves, Sandra
Source: check_circle
CIÊNCIAVITAE

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

Journal of Biological Chemistry
2010 | Journal article
EID:

2-s2.0-77954897974

Contributors: Pohl, S.; Tiede, S.; Marschner, K.; Encarnação, M.; Castrichini, M.; Kollmann, K.; Muschol, N.; Ullrich, K.; Müller-Loennies, S.; Braulke, T.
Source: Self-asserted source
Marisa Encarnação via Scopus - Elsevier
grade
Preferred source (of 2)‎

Novel method for picking up large heterozygous deletions with semiquantitative PCR in patients with mucolipidosis III alpha/beta

EMBL Symposium Human Variation: Cause and Consequence
2010-06 | Conference paper
Source: Self-asserted source
Marisa Encarnação

Molecular analysis and functional role of the gamma-subunit of N-acetylglucosamine-1-phosphotransferase

2010-01 | Conference paper
Source: Self-asserted source
Marisa Encarnação

Common origin of the worldwide-spread mutation c.3503_3504delTC causing the lysosomal storage disease mucolipidosis type II

2009 | Conference paper
SOURCE-WORK-ID:

cv-prod-id-782204

Contributors: Coutinho, Maria Francisca; Encarnação, Marisa; Gomes, Rui; Prata, Maria João; Bargal, Ruth; Filocammo, Mirella; RaasRothschild, A.; Tappino, Barbara; Alves, Sandra
Source: check_circle
CIÊNCIAVITAE

Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - Identification of eight novel mutations

Clinical Genetics
2009 | Journal article
EID:

2-s2.0-67650875936

Contributors: Encarnação, M.; Lacerda, L.; Costa, R.; Prata, M.J.; Coutinho, M.F.; Ribeiro, H.; Lopes, L.; Pineda, M.; Ignatius, J.; Galvez, H. et al.
Source: Self-asserted source
Marisa Encarnação via Scopus - Elsevier
grade
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