Engineering synthetic and recombinant human lysosomal β-glucocerebrosidase for enzyme replacement therapy for Gaucher disease

Autor: Lílian L. Souza Figueiredo, Wilson Lau Junior, Victor Wendel da Silva Goncalves, Ester Silveira Ramos, Vania D’Almeida, Lucas Eduardo Botelho de Souza, Maristela Delgado Orellana, Kuruvilla Joseph Abraham, Flávio Lichtenstein, Lucas Bleicher, Vasco Azevedo, Rigoberto Gadelha Chaves, Giuliano Bonfá, Velia Siciliano, Ron Weiss, Stanton Gerson, Aparecida Maria Fontes

Publikováno v: Discover Applied Sciences, Vol 6, Iss 10, Pp 1-21 (2024)

Abstract Gaucher Disease (GD) is an autosomal recessive, lysosomal storage disease caused by pathogenic variants in the glucocerebrosidase gene, leading to the loss of β-glucocerebrosidase (GCase) enzymatic activity. Enzyme replacement therapy (ERT)

Externí odkaz: https://doaj.org/article/0e69a8658e664f1aa7fe4a550c49114f

Integrative network analysis of differentially methylated regions to study the impact of gestational weight gain on maternal metabolism and fetal-neonatal growth

Autor: Perla Pizzi Argentato, João Victor da Silva Guerra, Liania Alves Luzia, Ester Silveira Ramos, Mariana Maschietto, Patrícia Helen de Carvalho Rondó

Publikováno v: Genetics and Molecular Biology, Vol 47, Iss 1 (2024)

Abstract Integrative network analysis (INA) is important for identifying gene modules or epigenetically regulated molecular pathways in diseases. This study evaluated the effect of excessive gestational weight gain (EGWG) on INA of differentially met

Externí odkaz: https://doaj.org/article/3ad3b9ce1b384f57b437806c121e4cf8

The relationship between obesity-related H19DMR methylation and H19 and IGF2 gene expression on offspring growth and body composition

Autor: Perla Pizzi Argentato, Jorge Augusto Petroli Marchesi, Naiara Naiana Dejani, Patrícia Yury Nakandakare, Laísla de França da Silva Teles, Lívia Patrícia Rodrigues Batista, Maria Paula Carvalho Leitão, Liania Alves Luzia, Ester Silveira Ramos, Patricia Helen Rondó

Publikováno v: Frontiers in Nutrition, Vol 10 (2023)

Background and objectiveImprinted genes are important for the offspring development. To assess the relationship between obesity-related H19DMR methylation and H19 and IGF2 gene expression and offspring growth and body composition.MethodsThirty-nine o

Externí odkaz: https://doaj.org/article/1720963b2f174ce2af995726a8b3e7a2

Generation of Primordial Germ Cell-like Cells from iPSCs Derived from Turner Syndrome Patients

Autor: Aline Fernanda de Souza, Fabiana Fernandes Bressan, Naira Caroline Godoy Pieri, Ramon Cesar Botigelli, Tamas Revay, Simone Kashima Haddad, Dimas Tadeu Covas, Ester Silveira Ramos, Willian Allan King, Flavio Vieira Meirelles

Publikováno v: Cells, Vol 10, Iss 11, p 3099 (2021)

Turner syndrome (TS) is a genetic disorder in females with X Chromosome monosomy associated with highly variable clinical features, including premature primary gonadal failure leading to ovarian dysfunction and infertility. The mechanism of developme

Externí odkaz: https://doaj.org/article/bd63ec6557c94184bad4ea841cd1c3ab

Correlation of genome methylation of fig tree accessions with natural nematode and rust incidence

Autor: Bruno Pavan, Ricardo Velludo Gomes de Soutello, Juliano Jorge Valentim, ANTONIO FLÁVIO ARRUDA FERREIRA, Ester Silveira Ramos, Maria Gabriela Fontanetti Rodrigues, Ana Carolina Firmino, Laís Naiara Honorato Monteiro

Publikováno v: Brazilian Journal of Biology, Volume: 84, Article number: e263041, Published: 04 JUL 2022
SciELO
Repositório Institucional da UNESP
Universidade Estadual Paulista (UNESP)
instacron:UNESP
Brazilian Journal of Biology v.84 2024
Brazilian Journal of Biology
Instituto Internacional de Ecologia (IIE)
instacron:IIE

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