INTRODUÇÃO: A hipercolesterolemia familiar (HF) é uma doença autossômica dominante, caracterizada por altos níveis plasmáticos do colesterol de lipoproteína de baixa densidade (LDL-C) e pelo alto risco de desenvolvimento prematuro de doenças cardiovasculares (DCV). OBJETIVO: Avaliar as diferente...
Dagli-Hernandez, Carolina;
Ferreira, Glaucio Monteiro;
Freitas, Renata Caroline Costa de;
Borges, Jessica Bassani;
Oliveira, Victor Fernandes de;
Gonçalves, Rodrigo Marques;
Faludi, Andre Arpad;
Marçal, Elisangela da Silva Rodrigues;
Bastos, Gisele Medeiros;
Bortolin, Raul Hernandes;
Hirata, Mario Hiroyuki;
Hirata, Rosario Dominguez Crespo.
OBJECTIVES: This study explored the association of deleterious variants in pharmacodynamics (PD) genes with statin response and adverse effects in patients with familial hypercholesterolemia (FH) and analyzed their potential effects on protein structure and stability.
METHODS: Clinical and laboratory dat...
Abreu-Silva, Erlon Oliveira de;
Machado, Rachel Helena Vieira;
dos Santos, Bianca Rodrigues;
Kojima, Flavia Soares;
Santos, Renato Hideo Nakagawa;
Murizine, Gabriela Souza;
Homsi, Jordana Rosa;
Negrelli, Karina Leal;
Barbante, Letícia Galvao;
Silva, Pedro G.M. de Barros e;
Lima, Andressa Gusmao de;
Tramujas, Lucas;
Bersch-Ferreira, Angela Cristine;
Carvalho, Adriana Bastos;
Oliveira, Thaís Martins de;
Izar, Maria Cristina;
Sampaio, Geni Rodrigues;
Damasceno, Nagila Raquel Teixeira;
Rogero, Marcelo Macedo;
Torres, Elizabeth Aparecida Ferraz da Silva;
Costa, Rosana Perim;
Mota, Luís Gustavo de Souza;
Krey, Julia Pinheiro;
Silva, Lucas Ribeiro da;
de Luca, Patrícia Vieira;
Amaral, Cristiane Kovacs;
Oliveira, Patricia Rodrigues de;
Silva, Renata Alves da;
Moreira, Priscila;
Santos, Elisa Maia dos;
Melo, Rodrigo Morel Vieira de;
Lima, Eduardo Gomes;
de Luca, Andre;
Heck, Thiago Gomes;
Carvalho, Ana Paula Perillo Ferreira;
Garofallo, Silvia Bueno;
Cavalcanti, Alexandre Biasi;
Marcadenti, Aline.
BACKGROUND AND AIMS: A healthy diet is one of the pillars of familial hypercholesterolemia (FH) treatment. However, the best dietary pattern and indication for specific supplementation have not been established. Our aim is to conduct a pilot study to assess the effect of an adapted cardioprotective diet ...
Santos, Natasha Soares Simões dos;
Nishida, Gustavo;
Batista, Fernanda A. Heleno;
Ribeiro, Flavio Galvão;
Carvalho, Priscila Nasser de;
Siqueira, Paula Veloso;
Wang, Hui Tzu Lin;
Machado, Mayriele da Silva;
Shinzato, Mariane Higa;
Franchini, Kleber Gomes.
INTRODUÇÃO: A hipercolesterolemia familiar (HF) é um distúrbio genético bem reconhecido que se manifesta como níveis significativamente elevados de LDL-c sérico devido a aberrações no metabolismo das lipoproteínas. A maioria dos casos de HF, especificamente 85-90%, está associada a mutações ...
Mori, Augusto Akira;
Malaquias, Vanessa Barbosa;
Bonjour, Kennedy;
Ferreira, Glaucio Monteiro;
Bortolin, Raul Hernandes;
Borges, Jéssica Bassani;
Oliveira, Victor Fernandes de;
Gonçalves, Rodrigo Marques;
Faludi, Andre Arpad;
Bastos, Gisele Monteiro;
Thurow, Helena;
Sampaio, Marcelo Ferraz;
Ciconelli, Rozana Mesquita;
Cury, Adriano Namo;
Fajardo, Cristina Moreno;
Hirata, Rosario Dominguez Crespo;
Hirata, Mario Hiroyuki.
Familial Hypercholesterolemia (FH) is a genetic disorder associated with premature atherosclerosis and increased risk of cardiovascular diseases. LDLR deleterious mutations are associated with FH, however the role of some missense variants in FH pathogenicity remains to be elucidated. This study explored...
Cerda, Alvaro;
Bortolin, Raul Hernandes;
Yoshinaga, Marcos Yukio;
Freitas, Renata Caroline Costa de;
Dagli-Hernandez, Carolina;
Borges, Jessica Bassani;
Oliveira, Victor Fernandes de;
Gonçalves, Rodrigo Marques;
Faludi, Andre Arpad;
Bastos, Gisele Medeiros;
Hirata, Rosario Dominguez Crespo;
Hirata, Mario Hiroyuki.
Familial hypercholesterolemia (FH) is a disorder of lipid metabolism that causes elevated low-density lipoprotein cholesterol (LDL-c) and increased premature atherosclerosis risk. Statins inhibit endogenous cholesterol biosynthesis, which reduces LDL-c plasma levels and prevent from cardiovascular events...
de Freitas, Renata Caroline Costa;
Bortolin, Raul Hernandes;
Borges, Jessica Bassani;
de Oliveira, Victor Fernandes;
Dagli-Hernandez, Carolina;
Marçal, Elisangela da Silva Rodrigues;
Bastos, Gisele Medeiros;
Gonçalves, Rodrigo Marques;
Faludi, Andre Arpad;
Silbiger, Vivian Nogueira;
Luchessi, André Ducati;
Hirata, Rosario Dominguez Crespo;
Hirata, Mario Hiroyuki.
BACKGROUND
Familial hypercholesterolemia (FH) is caused by pathogenic variants in low-density lipoprotein (LDL) receptor (LDLR) or its associated genes, including apolipoprotein B (APOB), proprotein convertase subtilisin/kexin type 9 (PCSK9), and LDLR adaptor protein 1 (LDLRAP1). However, approximately 4...
Araújo, Jéssica Nayara Góes de;
Oliveira, Victor Fernandes de;
Borges, Jéssica Bassani;
Dagli-Hernandez, Carolina;
Marçal, Elisangela da Silva Rodrigues;
Freitas, Renata Caroline Costa de;
Bastos, Gisele Medeiros;
Gonçalves, Rodrigo Marques;
Faludi, André Arpad;
Jannes, Cinthia Elim;
Pereira, Alexandre da Costa;
Hirata, Rosario Dominguez Crespo;
Hirata, Mario Hiroyuki;
Luchessi, André Ducati;
Silbiger, Vivian Nogueira.
ABSTRACT: Familial hypercholesterolemia (FH) is a prevalent autosomal genetic disease associated with increased risk of early cardiovascular events and death due to chronic exposure to very high levels of low-density lipoprotein cholesterol (LDL-c). Pathogenic variants in the coding regions of LDLR, APOB...
Barbosa, Thais Kristini Almendros;
Hirata, Rosario Dominguez Crespo;
Ferreira, Glaucio Monteiro;
Borges, Jéssica Bassani;
Oliveira, Victor Fernandes;
Gorjão, Renata;
Marçal, Elisangela Rodrigues da Silva;
Gonçalves, Rodrigo Marques;
Faludi, André Arpad;
Freitas, Renata Caroline Costa;
Dagli-Hernandez, Carolina;
Bortolin, Raul Hernandes;
Bastos, Gisele Medeiros;
Pithon-Curi, Tania Cristina;
Nader, Helena Bonciani;
Hirata, Mario Hiroyuki.
ABSTRACT: Familial hypercholesterolemia (FH) is caused by deleterious mutations in the LDLR that increase markedly low-density lipoprotein (LDL) cholesterol and cause premature atherosclerotic cardiovascular disease. Functional effects of pathogenic LDLR variants identified in Brazilian FH patients were ...
Los, Bruna;
Ferreira, Glaucio Monteiro;
Borges, Jéssica Bassani;
Kronenberger, Thales;
Oliveira, Victor Fernandes de;
Dagli-Hernandez, Carolina;
Bortolin, Raul Hernandes;
Gonçalves, Rodrigo Marques;
Faludi, Andre Arpad;
Mori, Augusto Akira;
Barbosa, Thais Kristini Almendros;
Freitas, Renata Caroline Costa de;
Jannes, Cinthia Elim;
Pereira, Alexandre da Costa;
Bastos, Gisele Medeiros;
Poso, Antti;
Hirata, Rosario Dominguez Crespo;
Hirata, Mario Hiroyuki.
ABSTRACT: PCSK9 gain-of-function (GOF) variants increase degradation of low-density lipoprotein receptor (LDLR) and are potentially associated with Familial Hypercholesterolemia (FH). This study aimed to explore the effects of PCSK9 missense variants on protein structure and interactions with LDLR using ...
