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 …
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 …
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 …
neurological and cardiac abnormalities. It predominantly affects individuals of European and …
Synthetic transcription elongation factors license transcription across repressive chromatin
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 …
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 …
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 …
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 …
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 …
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 …
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 …
requiring RNA elimination and transcription termination factors. However, a direct …