Marisa Encarnação

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

Marisa Encarnação, Lília Espada, Cristina Escrevente et al. · The Journal of Cell Biology · 2016 · 113 citations · Full text

Human Rab Family, Plasma Membrane Repair, Molecular Biology +21

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 et al. · Clinical Genetics · 2009 · 53 citations

Immunodeficiencies, Genetics, Glycobiology +23

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 et al. · American Journal of Medical Genetics Part A · 2009 · 27 citations

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

Marisa Encarnação, Renan Garcia Gomes, Liliana Santos et al. · Clinical Genetics · 2010 · 22 citations · Full text

Genetics, Mucolipidosis Type Ii, Immunology +16

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

Raffaella De Pace, Renata Voltolini Velho, Marisa Encarnação et al. · Human Molecular Genetics · 2015 · 22 citations · Full text