Friedreich's ataxia: clinical features, pathogenesis and management

A Cook, P Giunti - British medical bulletin, 2017 - academic.oup.com
Introduction Friedreich's ataxia is the most common inherited ataxia. Sources of data
Literature search using PubMed with keywords Friedreich's ataxia together with published …

[HTML][HTML] Friedreich ataxia-pathogenesis and implications for therapies

MB Delatycki, SI Bidichandani - Neurobiology of disease, 2019 - Elsevier
Friedreich ataxia is the most common of the hereditary ataxias. It is due to homozygous/
compound heterozygous mutations in FXN. This gene encodes frataxin, a protein largely …

Friedreich ataxia

M Pandolfo - Rosenberg's Molecular and Genetic Basis of …, 2025 - Elsevier
Friedreich ataxia (FRDA) is an autosomal-recessive disorder characterized by progressive
neurological and cardiac abnormalities. It predominantly affects individuals of European and …

Synthetic transcription elongation factors license transcription across repressive chromatin

GS Erwin, MP Grieshop, A Ali, J Qi, M Lawlor, D Kumar… - Science, 2017 - science.org
The release of paused RNA polymerase II into productive elongation is highly regulated,
especially at genes that affect human development and disease. To exert control over this …

Epigenetic and neurological effects and safety of high-dose nicotinamide in patients with Friedreich's ataxia: an exploratory, open-label, dose-escalation study

V Libri, C Yandim, S Athanasopoulos, N Loyse… - The Lancet, 2014 - thelancet.com
Background Friedreich's ataxia is a progressive degenerative disorder caused by deficiency
of the frataxin protein. Expanded GAA repeats within intron 1 of the frataxin (FXN) gene lead …

Deferiprone in F riedreich ataxia: a 6‐Month randomized controlled trial

M Pandolfo, J Arpa, MB Delatycki… - Annals of …, 2014 - Wiley Online Library
Objective We conducted a 6‐month, randomized, double‐blind, placebo‐controlled study to
assess safety, tolerability, and efficacy of deferiprone in Friedreich ataxia (FRDA). Methods …

Drosophila melanogaster Models of Metal-Related Human Diseases and Metal Toxicity

P Calap-Quintana, J González-Fernández… - International journal of …, 2017 - mdpi.com
Iron, copper and zinc are transition metals essential for life because they are required in a
multitude of biological processes. Organisms have evolved to acquire metals from nutrition …

[HTML][HTML] Molecular mechanisms and therapeutics for the GAA· TTC expansion disease Friedreich ataxia

JM Gottesfeld - Neurotherapeutics, 2019 - Elsevier
Friedreich ataxia (FRDA), the most common inherited ataxia, is caused by transcriptional
silencing of the nuclear FXN gene, encoding the essential mitochondrial protein frataxin …

Central nervous system therapeutic targets in Friedreich ataxia

IH Harding, DR Lynch, AH Koeppen… - Human gene …, 2020 - liebertpub.com
Friedreich ataxia (FRDA) is an autosomal recessive inherited multisystem disease,
characterized by marked differences in the vulnerability of neuronal systems. In general, the …

CPF recruitment to non-canonical transcription termination sites triggers heterochromatin assembly and gene silencing

TV Vo, J Dhakshnamoorthy, M Larkin, M Zofall… - Cell reports, 2019 - cell.com
In eukaryotic genomes, heterochromatin is targeted by RNAi machinery and/or by pathways
requiring RNA elimination and transcription termination factors. However, a direct …