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List of works by Marisa Encarnação

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

scientific article published on June 2016

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

scientific article published on 01 September 2020

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

scientific article published on 26 October 2016

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

scientific article published on 01 January 2010

Molecular Characterization of a Novel Splicing Mutation underlying Mucopolysaccharidosis (MPS) type VI-Indirect Proof of Principle on Its Pathogenicity

scientific article published on 21 January 2020

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

scientific article published on 15 September 2020

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

scientific article published on 29 September 2010

Post-translational Modifications of the γ-Subunit Affect Intracellular Trafficking and Complex Assembly of GlcNAc-1-phosphotransferase ⬇️

scientific article published on December 20, 2010

Proteolytic processing of the gamma-subunit is associated with the failure to form GlcNAc-1-phosphotransferase complexes and mannose 6-phosphate residues on lysosomal enzymes in human macrophages.

scientific article published on 19 May 2010

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

scientific article published in October 2016

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

scientific article published on 18 September 2015

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