Marisa Encarnação - Concepedia

Author

Marisa Encarnação

University Medical Center Hamburg-Eppendorf ORCID

Also Known As

M Encarnação, M. Encarnação M. Encarnação, Marisa A.R. da Encarnação, Marisa Encarnacão, Marisa Encarnao, Marisa Encarnação, Marisa R. Encarnação

Publications

472

Citations

H-Index

Concepts

All Affiliations

University Medical Center Hamburg-Eppendorf Universität Hamburg Universidade do Porto National Institute of Health Dr. Ricardo Jorge University of Coimbra

About

Marisa Encarnação is an author at University Medical Center Hamburg-Eppendorf specializing in medicine, natural sciences, and lysosomal storage disease.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	4	4	208
2	Natural Sciences	3	3	186
3	Biochemistry	2	2	73
4	Cell Biology	2	2	133
5	Cellular Physiology	1	1	113

Marisa Encarnação

Publications

331

Citations

H-Index

Page 1

	Year	Citations
A Rab3a-dependent complex essential for lysosome positioning and plasma membrane repair Marisa Encarnação, Lília Espada, Cristina Escrevente, The Journal of Cell Biology Human Rab FamilyPlasma Membrane RepairMolecular BiologyCytoskeletonCellular Physiology	2016	113
Molecular analysis of the <i>GNPTAB </i>and <i>GNPTG </i>genes in 13 patients with mucolipidosis type II or type III – identification of eight novel mutations Marisa Encarnação, Lúcia Lacerda, Romain Da Costa, Clinical Genetics ImmunodeficienciesGeneticsGlycobiologyMucolipidosis Type IiPathology	2009	53
Loss of <i>N</i>‐acetylglucosamine‐1‐phosphotransferase gamma subunit due to intronic mutation in <i>GNPTG</i> causes mucolipidosis type III gamma: Implications for molecular and cellular diagnostics Sandra Pohl, Marisa Encarnação, Monica Castrichini, American Journal of Medical Genetics Part A	2009	27
Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity Marisa Encarnação, Renan Garcia Gomes, Liliana Santos, Clinical Genetics GeneticsMucolipidosis Type IiImmunologyHuman PolymorphismPathology	2010	22
Subunit interactions of the disease-related hexameric GlcNAc-1-phosphotransferase complex Raffaella De Pace, Renata Voltolini Velho, Marisa Encarnação, Human Molecular Genetics	2015	22
Post-translational Modifications of the γ-Subunit Affect Intracellular Trafficking and Complex Assembly of GlcNAc-1-phosphotransferase Marisa Encarnação, Katrin Kollmann, Maria Trusch, Journal of Biological Chemistry GlycobiologyEnzyme ComplexMolecular BiologyCarbohydrate-protein InteractionComplex Assembly	2010	20
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 Sandra Pohl, Stephan Tiede, Katrin Marschner, Journal of Biological Chemistry	2010	17
Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants Marisa Encarnação, Maria Francisca Coutinho, Lisbeth Silva, International Journal of Molecular Sciences	2020	16
<i>NPC1</i> silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann‐Pick type C patient Marisa Encarnação, Maria Francisca Coutinho, Soo Min Cho, Molecular Genetics & Genomic Medicine	2020	15
Cholesteryl hemiesters alter lysosome structure and function and induce proinflammatory cytokine production in macrophages Neuza Domingues, Luı́s M.B.B. Estronca, João S. Silva, Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids	2016	14

Page 1