Luisa Natália Pimentel Vera

Liposomal CRISPR/Cas9-Mediated Local Genome Editing for Joint Disease in Mucopolysaccharidosis Type I

Hallana Souza Santos, Édina Poletto, Luisa Natália Pimentel Vera, Mirian Farinon et autres

Background/Objectives: Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder caused by α-L-iduronidase (IDUA) deficiency, leading to progressive glycosaminoglycan (GAG) accumulation and severe joint involvement. Gene editing represents a promising alternative to restore localized enzyme production. Therefore, this study aimed to …

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CNS-wide repopulation by hematopoietic-derived microglia-like cells corrects progranulin deficiency in mice

Pasqualina Colella, Ruhi Sayana, María Valentina Suárez-Nieto, Jolanda Sarno et autres

Hematopoietic stem cell transplantation can deliver therapeutic proteins to the central nervous system (CNS) through transplant-derived microglia-like cells. However, current conditioning approaches result in low and slow engraftment of transplanted cells in the CNS. Here we optimized a brain conditioning regimen that …

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Laronidase-loaded liposomes reach the brain and other hard-to-treat organs after noninvasive nasal administration

Roselena Silvestri Schuh, Eduarda Piovesan Franceschi, Bruna Brazeiro Brum, Flávia Nathiely Silveira Fachel et autres

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Effect of genistein and coenzyme Q10 in oxidative damage and mitochondrial membrane potential in an attenuated type II mucopolysaccharidosis cellular model

Camila Aguilar Delgado, Édina Poletto, Luisa Natália Pimentel Vera, Carlos Eduardo Diaz Jacques et autres

Mucopolysaccharidosis type II (MPS II) is an inborn error of the metabolism resulting from several possible mutations in the gene coding for iduronate-2-sulfatase (IDS), which leads to a great clinical heterogeneity presented by these patients. Many studies demonstrate the involvement of oxidative …

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Characterization of heart disease in mucopolysaccharidosis type II mice

Ângela Maria Vicente Tavares, Esteban Alberto Gonzalez, Isabelle Souza Viana, Fernanda Visioli et autres

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Evaluation of oxidative stress and mitochondrial function in a type II mucopolysaccharidosis cellular model: in vitro effects of genistein and coenzyme Q10

Carlos Eduardo Diaz Jacques, Franciele Fátima Lopes, Édina Poletto, Luisa Natália Pimentel Vera et autres

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Brain and visceral gene editing of mucopolysaccharidosis I mice by nasal delivery of the CRISPR/Cas9 system

Luisa Natália Pimentel Vera, Roselena Silvestri Schuh, Flávia Nathiely Silveira Fachel, Édina Poletto et autres

BACKGROUND: Mucopolysaccharidosis type I (MPS I) is an inherited disease caused by deficiency of the enzyme alpha-l-iduronidase (IDUA). MPS I affects several tissues, including the brain, leading to cognitive impairment in the severe form of the disease. Currently available treatments do not …

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In Situ Gene Therapy

Hallana Souza Santos, Luiza Rodrigues, Luisa Natália Pimentel Vera, Édina Poletto et autres

Gene therapy is a technique that aims at the delivery of nucleic acids to cells, to obtain a therapeutic effect. In situ gene therapy consists of the administration of the gene product to a specific site. It possesses several advantages, such as …

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The potential of gene therapy for mucopolysaccharidosis type I

Luisa Natália Pimentel Vera, Guilherme Valdir Baldo

Introduction: Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder caused by mutations in the IDUA gene, characterized by deficient IDUA enzyme production and storage of glycosaminoglycans in tissues. Currently, therapeutic strategies approved have shown an improvement in quality of life …

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Neonatal nonviral gene editing with the CRISPR/Cas9 system improves some cardiovascular, respiratory, and bone disease features of the mucopolysaccharidosis I phenotype in mice

Roselena Silvestri Schuh, Esteban Alberto Gonzalez, Ângela Maria Vicente Tavares, Bruna Gazzi de Lima Seolin et autres

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Vetores não-virais do sistema CRISPR/CAS9 para terapia gênica de camundongos MPS I

Roselena Silvestri Schuh, Édina Poletto, Gabriela Pasqualim, Luisa Natália Pimentel Vera et autres

Avaliação de os níveis enzimáticos da iduronato 2-sulfatasa em tecidos de camundongos Knockout MPS II tratados com o sistema CRISPR/CAS9 para a correção da Síndrome de Hunter

Luisa Natália Pimentel Vera, Roselena Silvestri Schuh, Ângela Maria Vicente Tavares, Esteban Alberto Gonzalez et autres