Results 151 to 160 of about 10,061 (229)

Functional Movement Disorder in Familial Ataxia: A Case Report of Monozygotic Twins

Movement Disorders Clinical Practice, Volume 12, Issue 11, Page 1992-1994, November 2025.
Daniela Kern, Christian Windpassinger, Petra Schwingenschuh   +2 more
wiley   +1 more source

Turning Escherichia coli into a Frataxin-Dependent Organism

PLOS Genetics, 2015
Fe-S bound proteins are ubiquitous and contribute to most basic cellular processes. A defect in the ISC components catalyzing Fe-S cluster biogenesis leads to drastic phenotypes in both eukaryotes and prokaryotes. In this context, the Frataxin protein (FXN) stands out as an exception.
Roche, Béatrice, Agrebi, Rym, Huguenot, Allison, Ollagnier de Choudens, Sandrine, Barras, Frédéric, Py, Béatrice, Casadesús, Josep   +6 more
openaire   +6 more sources

Development of frataxin gene expression measures for the evaluation of experimental treatments in Friedreich\u27s ataxia. [PDF]

, 2013
BACKGROUND: Friedreich ataxia is a progressive neurodegenerative disorder caused by GAA triplet repeat expansions or point mutations in the FXN gene and, ultimately, a deficiency in the levels of functional frataxin protein.
Belmonte, Matthew, Deutsch, Eric C, Egan, Elizabeth, Lynch, David R, Plasterer, Heather L, Rusche, James R   +5 more
core   +1 more source

GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology [PDF]

, 2006
Friedreich ataxia (FRDA) is a neurodegenerative disorder caused by an unstable GAA repeat expansion mutation within intron 1 of the FXN gene. However, the origins of the GAA repeat expansion, its unstable dynamics within different cells and tissues, and ...
Al-Mahdawi, S, Blake, J, Cooper, JM, Hughes, S, King, R, Lawrence, L, Lowrie, MB, Pinto, RM, Pook, MA, Varshney, D, Webster, Z   +10 more
core  

Desarrollo de un sistema de cuantificación de frataxina humana para el diagnóstico complementario y seguimiento de individuos con Ataxia de Friedreich [PDF]

, 2018
Introducción: la Ataxia de Friedreich es una enfermedad genética de herencia autosómica recesiva, caracterizada por la dificultad en el movimiento. La causa es la mutación en el gen que codifica para una proteína mitocondrial denominada frataxina (Fxn ...
Balbi, Noelia, Faraj, Santiago Enrique, Ferrari, Alejandro Andrés, Pikielny, Ralph, Santos, Javier, Varela, Carolina   +5 more
core  

Safety, pharmacokinetics, and pharmacodynamics of nomlabofusp (CTI‐1601) in Friedreich's ataxia

Annals of Clinical and Translational Neurology
Objective Current treatments for Friedreich's ataxia, a neurodegenerative disorder characterized by decreased intramitochondrial frataxin, do not address low frataxin concentrations.
Russell Clayton, Teresa Galas, Noreen Scherer, Jennifer Farmer, Nancy Ruiz, Mohamed Hamdani, Devin Schecter, David Bettoun   +7 more
doaj   +1 more source

Reply to “Frataxin fracas” [PDF]

Nature Genetics, 1997
Susan Chamberlain, Mark Pook, Jaime Carvajal, Kitm Doudney, Renate Hillermann   +4 more
openaire   +1 more source

Functional characterization of Frataxin isoforms and mechanisms of regulation of frataxin expression

, 2019
Esta tesis tiene embargado el acceso al texto completo hasta el 04-01 ...
openaire   +1 more source

Frataxin (FXN; FRDA) [PDF]

Science-Business eXchange, 2014
openaire   +1 more source

Mutations in mitochondrial ferredoxin FDX2 suppress frataxin deficiency. [PDF]

Nature
Meisel JD, Joshi PR, Spelbring AN, Wang H, Wellner SM, Wiesenthal PP, Miranda M, McCoy JG, Barondeau DP, Ruvkun G, Mootha VK.   +10 more
europepmc   +1 more source