Friedreich's Ataxia

Friedreich's ataxia is a rare autosomal recessive disease caused by defects in the FXN gene and characterized by progressive damage of the nervous system and movement problems. Here is the latest research on Friedreich's ataxia.

December 2, 2020
Review

Mitochondrial dysfunction in the development and progression of neurodegenerative diseases

Archives of Biochemistry and Biophysics
Joseph JohnsonDavid R Lynch
November 1, 2020
Open Access

Oxidative stress modulates rearrangement of endoplasmic reticulum-mitochondria contacts and calcium dysregulation in a Friedreich's ataxia model

Redox Biology
Laura R RodríguezPilar González-Cabo
January 18, 2021
Open Access

Inhibition of the SUV4-20 H1 histone methyltransferase increases frataxin expression in Friedreich's ataxia patient cells

The Journal of Biological Chemistry
Gabriela Vilema-EnríquezRichard Wade-Martins
December 6, 2020
Open Access

COG5 variants lead to complex early onset retinal degeneration, upregulation of PERK and DNA damage

Scientific Reports
Sami TabbarahPhilippe P Monnier
October 7, 2020
Review
Open Access

Assessment of Ataxia Rating Scales and Cerebellar Functional Tests: Critique and Recommendations

Movement Disorders : Official Journal of the Movement Disorder Society
Santiago Perez-Lloretand members of the MDS Rating Scales Review Committee
December 6, 2020
Open Access

Liver Growth Factor "LGF" as a Therapeutic Agent for Alzheimer's Disease

International Journal of Molecular Sciences
Rafael Gonzalo-GobernadoEulalia Bazán
September 23, 2020
Open Access

A Highly Conserved Iron-Sulfur Cluster Assembly Machinery between Humans and Amoeba Dictyostelium discoideum : The Characterization of Frataxin

International Journal of Molecular Sciences
Justo OlmosJavier Santos
November 19, 2020
Review
Open Access

Ferroptosis in Friedreich's Ataxia: A Metal-Induced Neurodegenerative Disease

Biomolecules
Piergiorgio La RosaFiorella Piemonte
October 7, 2020

Quantitative Assessment of Friedreich Ataxia through the self-drinking activity

Annual International Conference of the IEEE Engineering in Medicine and Biology Society
Ragil KrishnaDavid J Szmulewicz
December 12, 2020
Open Access

Calcitriol increases frataxin levels and restores mitochondrial function in cell models of Friedreich Ataxia.

The Biochemical Journal
Elena BrittiJoaquim Ros
October 18, 2020
Open Access

Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (MOXIe Study)

Annals of Neurology
David R LynchColin J Meyer
September 27, 2020
Open Access

Extra-mitochondrial mouse frataxin and its implications for mouse models of Friedreich's ataxia

Scientific Reports
Liwei WengIan A Blair
October 14, 2020
Open Access

Sexual function, intimate relationships and Friedreich ataxia

Journal of Neurology
Louise A CorbenMartin B Delatycki
November 8, 2020
Open Access

Effect of Mitochondrial and Cytosolic FXN Isoform Expression on Mitochondrial Dynamics and Metabolism

International Journal of Molecular Sciences
Mauro Agrò, Javier Díaz-Nido
October 9, 2020
Open Access

Inhibition of the SUV4-20 H1 histone methyltransferase increases frataxin expression in Friedreich's ataxia patient cells

The Journal of Biological Chemistry
Gabriela Vilema-EnríquezRichard Wade-Martins

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