Results 111 to 120 of about 5,449 (210)

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

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

Knockout of frataxin gene causes embryo lethality in Arabidopsis

, 2007
Frataxin is present in mitochondria of all eukaryotes as well as in the cytoplasm of bacteria. In humans, reduced expression of frataxin is associated with Friedreich’s ataxia, a recessive inherited neurodegenerative and cardiac disorder leading to ...
C. Soave, Murgia, Irene, Losa, Alessia, Vazzola, Valentina, V. Vazzola, Soave, Carlo, I. Murgia, A. Losa, D. Tarantino   +8 more
core   +2 more sources

The Regulation of the Disease-Causing Gene FXN

Cells
Friedreich’s ataxia (FRDA) is a progressive neurodegenerative disease caused in almost all patients by expanded guanine–adenine–adenine (GAA) trinucleotide repeats within intron 1 of the FXN gene.
Yi Na Dong, Elizabeth Mercado-Ayón, Jennifer Coulman, Liam Flatley, Lucie Vanessa Ngaba, Miniat W. Adeshina, David R. Lynch   +6 more
doaj   +1 more source

The in vivo mitochondrial two-step maturation of human frataxin.

, 2008
International audienceDeficiency in the nuclear-encoded mitochondrial protein frataxin causes Friedreich ataxia (FRDA), a progressive neurodegenerative disorder associating spinocerebellar ataxia and cardiomyopathy.
Stéphane Schmucker, Puccio, Hélène, Schmucker, Stéphane, Carelle-Calmels, Nadège, Martelli, Alain, Hélène Puccio, Argentini, Manuela, Nadège Carelle-Calmels, Alain Martelli, Manuela Argentini   +9 more
core   +1 more source

Mesenchymal stem cell conditioned medium increases frataxin protein expression.

, 2013
Immunoblotting of human frataxin in (A) FRDA fibroblasts and (B) control fibroblasts after exposure to minimal medium (MIN) or MSC conditioned medium (MSC CM) for 24 hours. Upper panels correspond to frataxin (FXN); lower panel corresponds to the loading
Kevin Kemp (342472), Elizabeth Mallam (342473), Jonathan Witherick (342475), Alastair Wilkins (342477), Kelly Hares (342474), Neil Scolding (342476)   +5 more
core   +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

Frataxin is essential for zebrafish embryogenesis and pronephros formation

Frontiers in Cell and Developmental Biology
Background and objectivesFriedreich’s Ataxia (FRDA) is a genetic disease that affects a variety of different tissues. The disease is caused by a mutation in the frataxin gene (FXN) which is important for the synthesis of iron-sulfur clusters. The primary pathologies of FRDA are loss of motor control and cardiomyopathy.
Wesley S. Ercanbrack, Austin Dungan, Ella Gaul, Mateo Ramirez, Alexander J. DelVecchio, Calvin Grass, Rebecca A. Wingert   +6 more
openaire   +3 more sources

PROTEIN FOLDING AND DISEASE THE MITOCHONDRIAL PROTEIN FRATAXIN [PDF]

, 2015
This dissertation focuses on the study of frataxin, a small mitochondrial protein whose deficiency is associated with the neurodegenerative disease Friedreich's ataxia (FRDA). Aiming at a better understanding of frataxin conformational and functional
Correia, Ana Raquel Viegas
core  

Nomlabofusp, a Fusion Protein of Human Frataxin and a Cell Penetrant Peptide, Delivers Mature and Functional Frataxin into Mitochondria

The AAPS Journal
Abstract Friedreich’s ataxia is a rare, progressive, genetic disorder, the root cause of which is a significant deficiency in the mitochondrial protein frataxin. Frataxin is ubiquitously expressed, but its deficiency results in a variety of debilitating symptoms, with disease severity, rate of progression and age of onset inversely ...
Matthew G. Baile, John Jones, Natasha Sahr, Gopi Shankar   +3 more
openaire   +2 more sources