Search results for "CMT"
showing 10 items of 11 documents
Oxidative Stress, a Crossroad Between Rare Diseases and Neurodegeneration
2020
Oxidative stress is an imbalance between production and accumulation of oxygen reactive species and/or reactive nitrogen species in cells and tissues, and the capacity of detoxifying these products, using enzymatic and non-enzymatic components, such as glutathione. Oxidative stress plays roles in several pathological processes in the nervous system, such as neurotoxicity, neuroinflammation, ischemic stroke, and neurodegeneration. The concepts of oxidative stress and rare diseases were formulated in the eighties, and since then, the link between them has not stopped growing. The present review aims to expand knowledge in the pathological processes associated with oxidative stress underlying …
Modelo celular a partir de iPSC de la enfermedad Charcot-Marie-Tooth causada por la ausencia de GDAP1
2021
La enfermedad de Charcot-Marie-Tooth es una polineuropatía hereditaria motora y sensorial de carácter crónico. Su origen multifactorial y poligénico, su complejo fenotipo clínico y la variedad en sus patrones de herencia genética hacen de ella una dolencia de difícil estudio. Por este motivo es necesario un abordaje multidisciplinar para comprender y desvelar las causas subyacentes a la patología. En esta tesis doctoral, se desarrolla un modelo celular in vitro generado a partir de iPSC murinas para comprender mejor el fenotipo celular y molecular de la dolencia causada por ausencia de GDAP1 en humanos. Mutaciones en Gdap1, el gen que codifica para una proteína localizada en la membrana mit…
Fisiopatología celular del déficit de GDAP1, relacionado con la enfermedad de Charcot-Marie-Tooth
2012
La enfermedad de Charcot-Marie-Tooth es uno de los trastornos neurológicos hereditarios más comunes que afecta aproximadamente a uno de casa 2.500 – 5.000 habitantes. La enfermedad CMT se clasifica en neuropatías desmielinizantes (CMT1) y neuropatías axonales (CMT2). Para ambas entidades se han descrito diversos patrones de herencia. Actualmente se conocen más de 40 genes implicados en la enfermedad siendo GDAP1 uno de los más variables en cuanto al fenotipo. Mutaciones en el gen GDAP1 se han relacionado con la enfermedad de tipo axonal y desmielinizante, además de heredarse de manera autosómica dominante o recesiva en función del tipo de mutación. GDAP1 es una proteína pequeña que se ancla…
Cell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A disease
2007
Abstract Mutations in the mitochondrial protein GDAP1 are the cause of Charcot-Marie-Tooth type 4A disease (CMT4A), a severe form of peripheral neuropathy associated with either demyelinating, axonal or intermediate pheno-types. GDAP1 is located in the outer mitochondrial membrane and it seems that may be related with the mitochondrial network dynamics. We are interested to define cell expression in the nervous system and the effect of mutations in mitochondrial morphology and pathogenesis of the disease. We investigated GDAP1 expression in the nervous system and dorsal root ganglia (DRG) neuron cultures. GDAP1 is expressed in motor and sensory neurons of the spinal cord and other large neu…
In vitro evaluation of poloxamer in situ forming gels for bedaquiline fumarate salt and pharmacokinetics following intramuscular injection in rats
2019
Graphical abstract
Bases genéticas y celulares de neuropatías periféricas hereditarias
2015
Tesis doctoral; 208 págs.
Distribución mutacional y correlación genotipo-fenotipo del síndrome de Charcot-Marie-Tooth en la Comunidad Valenciana
2015
i. Objetivo general: Describir la distribución mutacional de pacientes con CMT evaluados en el Hospital Universitari i Politècnic La Fe durante el periodo de 1990-2012 y compararla con otras poblaciones El análisis de la distribución mutacional de pacientes con CMT seguidos en el Hospital Universitari i Politècnic La Fe (centro de referencia para esta patología en la Comunidad Valenciana) confirma que la misma tiene características diferenciadoras con otras series publicadas. Entre ellas destaca la elevada frecuencia de formas con herencia autosómica recesiva y de mutaciones causales en el gen GDAP1. La frecuencia de pacientes con herencia recesiva es explicable en parte por la existencia d…
“SUCA” e “800A” nel dialetto e nell’italiano colloquiale: detabuizzazione e polisemia di un disfemismo siciliano, tra diafasia e diamesia
2020
Vine analizzata, dal punto di vista lessicografico e sociolinguistico, la parola di origine dialettale SUCA e la sua risalita nell'italiano regionale e nell'italiano colloquiale nonché la sua trasformazione grafica in 800A . Viene mostrata la sua vitalità, in prospettiva difasica e diamesica, nel dialetto siciliano, nell'italiano regionale di Sicilia, nell'italiano giovanile e colloquiale dell'Italia linguistica contemporanea,, nei mass media, nella CMT, nelle scritture esposte, negli usi letterari, nel linguaggio delle tifoserie calcistiche, nella marchionimia, nel linguaggio dei gesti.
Design and computer simulations of 2D MeX2 solid-state nanopores for DNA and protein detection analysis
2020
Solid-state nanopores (SSN) have emerged as versatile devices for biomolecule analysis. One of the most promising applications of SSN is DNA and protein sequencing, at a low cost and faster than the current standard methods. SSN sequencing is based on the measurement of ionic current variations when a biomolecule embedded in electrolyte is driven through a nanopore under an applied electric potential. As a biomolecule translocates through the nanopore, it occupies the pore volume and blocks the passage of ions. Hence, ultrafast monitoring of ionic flow during the passage of a biomolecule yields information about its structure and chemical properties. The size of the sensing region in SSN is…
A very mild phenotype of Charcot-Marie-Tooth disease type 4H caused by two novel mutations in FGD4
2019
Abstract Background Mutations in the FGD4 gene cause an autosomal recessive demyelinating peripheral neuropathy referred to as CMT4H, characterized by its onset in infancy or early-childhood and its slow progression. Methods The clinical and genetic status of two patients with CMT4H was studied, performing genetic testing with a panel of genes and analysing FGD4 mRNA expression by quantitative PCR. Results Two novel FGD4 variants (c.514delG and c.2211dupA) were identified in two mildly affected Spanish siblings with CMT4H, and with disease onset in late adolescence/adulthood (one of them remaining asymptomatic at 20). On examination, foot deformity was observed without weakness or sensory i…