Results 91 to 100 of about 3,918 (176)

Mitofusin-Dependent ER Stress Triggers Glial Dysfunction and Nervous System Degeneration in a Drosophila Model of Friedreich’s Ataxia

Frontiers in Molecular Neuroscience, 2018
Friedreich’s ataxia (FRDA) is the most important recessive ataxia in the Caucasian population. It is caused by a deficit of the mitochondrial protein frataxin.
Oliver Edenharter, Stephan Schneuwly, Juan A. Navarro   +2 more
doaj   +1 more source

Pharmacological screening using an FXN-EGFP cellular genomic reporter assay for the therapy of Friedreich ataxia.

PLoS ONE, 2013
Friedreich ataxia (FRDA) is an autosomal recessive disorder characterized by neurodegeneration and cardiomyopathy. The presence of a GAA trinucleotide repeat expansion in the first intron of the FXN gene results in the inhibition of gene expression and ...
Lingli Li, Lucille Voullaire, Chiranjeevi Sandi, Mark A Pook, Panos A Ioannou, Martin B Delatycki, Joseph P Sarsero   +6 more
doaj   +1 more source

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

Longitudinal analysis shows GAA1 length and baseline clinical status as robust predictors of progression in Friedreich ataxia. [PDF]

J Neurol
Manrique L, Martínez-Dubarbie F, Pelayo-Negro AL, Benitez-Calle N, Sanchez-Pelaez MV, Cota-Gonzalez D, Loza R, Martinez-Díaz R, Irure-Ventura J, Sanchez-Quintana C, Sanchez I, Matilla-Dueñas A, Infante J.   +12 more
europepmc   +1 more source

Targeting rare splicing defects: Antisense oligonucleotides offer a therapeutic strategy in FRDA. [PDF]

Mol Ther Nucleic Acids
Kerkhof LMC, Buijsen RAM.
europepmc   +1 more source

Comparative Structural Analysis of Escherichia Coli Cyay at Room and Cryogenic Temperatures Using Macromolecular and Serial Crystallography. [PDF]

Chembiochem
Shafiei A, Baldir N, Na J, Kim JH, DeMirci H.   +4 more
europepmc   +1 more source

Evaluation of Mitochondrial Complex 1 Density with [¹⁸F]BCPP-EF in a Murine Model and Individuals with Friedreich Ataxia. [PDF]

J Nucl Med
Chen L, Rizzo G, Bulawa C, Van Dijk KRA, Henning EC, Martelli A, Palmer J, McIntosh A, Pregel M, Sun P, Adewunmi E, Aldridge M, Chan J, Gunn RN, Huiban M, Listanco A, Loudon PT, Moz S, Passchier J, Sauvage L, Stewart R, Wells L, Rabiner EA, Charnas LR, Festenstein RJ.   +24 more
europepmc   +1 more source