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AAV-mediated delivery of the transcription factor XBP1s into the striatum reduces mutant Huntingtin aggregation in a mouse model of Huntington's disease
(2012)
Huntington's disease (HD) is caused by mutations that expand a polyglutamine region in the amino-terminal domain of Huntingtin (Htt), leading to the accumulation of intracellular inclusions and progressive neurodegeneration. ...
A Comprehensive Haplotype Targeting Strategy for Allele-Specific HTT Suppression in Huntington Disease.
(Elsevier, 2019)
Huntington disease (HD) is a fatal neurodegenerative disorder caused by a gain-of-function mutation in HTT. Suppression of mutant HTT has emerged as a leading therapeutic strategy for HD, with allele-selective approaches ...
Neurogenetics in Peru: clinical, scientific and ethical perspectives
(Springer, 2015)
Neurogenetics, the science that studies the genetic basis of the development and function of the nervous system, is a discipline of recent development in Peru, an emerging Latin American country. Herein, we review the ...
Implicación del polimorfismo genético del transportador de serotonina (5-htt) en la susceptibilidad a la depresión mayor
(Universidad del RosarioEspecialización en PsiquiatríaFacultad de Medicina, 2014)
Aim. Major depression is a common and complex disorder ofpolygenic origin. Given its importance in the pathophysiology andtherapy of disease, it’s demonstrated that gene encoding serotonintransporter (5-HTT) is associated ...
Serotonin transporter gene (5-HTT) polymorphism and major depressive disorder in patients in bogotá, Colombia
Introduction: The 5-HTT short allele has been controversially associated with an increased risk of major depressive disorder. Objective: To determine the association of 5-HTT short allele with major depression in Bogotá, ...
Circulating microRNAs in Huntington's disease: Emerging mediators in metabolic impairment
(Academic Press, 2016)
Association study of polymorphisms in LRP1, tau and 5-HTT genes and Alzheimer's disease in a sample of Colombian patients
Analysis of genetic susceptibility factors for Alzheimer's disease (AD) in populations with different genetic and environmental background may be useful to understand AD etiology. There are few genetic association studies ...
Clinical and Molecular Features of Late Onset Huntington Disease in a Peruvian Cohort
(IOS Press, 2015)
Background: Late onset cases of Huntington disease (HD), with onset ≥60 years, account for up to 20% of HD cases worldwide. Clinical features include mild motor dysfunction with slow progression and cognitive impairment, ...