Dimethyl fumarate dosing in humans increases frataxin expression: A potential therapy for Friedreich’s Ataxia

Pharmacological therapeutics in Friedreich ataxia: the present state

(2017) Cassandra Strawser et al.   Expert Review of Neurotherapeutics

Dimethyl fumarate mediates Nrf2-dependent mitochondrial biogenesis in mice and humans

(2017) Genki Hayashi et al.   HUMAN MOLECULAR GENETICS

Frataxin deficiency impairs mitochondrial biogenesis in cells, mice and humans

(2017) Mittal J. Jasoliya et al.   HUMAN MOLECULAR GENETICS

Pharmacological therapeutics in Friedreich ataxia: the present state

(2017) Cassandra Strawser et al.   Expert Review of Neurotherapeutics

Emerging therapeutics for the treatment of Friedreich’s ataxia

(2017) Elisabetta Indelicato et al.   Expert Opinion on Orphan Drugs

Prevalent, Dynamic, and Conserved R-Loop Structures Associate with Specific Epigenomic Signatures in Mammals

(2016) Lionel A. Sanz et al.   MOLECULAR CELL

R loops: new modulators of genome dynamics and function

(2015) José M. Santos-Pereira et al.   NATURE REVIEWS GENETICS

Dimethyl Fumarate (Tecfidera)

(2014) Jineane V. Venci et al.   ANNALS OF PHARMACOTHERAPY

Human Frataxin Activates Fe–S Cluster Biosynthesis by Facilitating Sulfur Transfer Chemistry

(2014) Jennifer Bridwell-Rabb et al.   BIOCHEMISTRY

Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia

(2014) Sunil Sahdeo et al.   HUMAN MOLECULAR GENETICS

R-loops induce repressive chromatin marks over mammalian gene terminators

(2014) Konstantina Skourti-Stathaki et al.   NATURE

R-loops Associated with Triplet Repeat Expansions Promote Gene Silencing in Friedreich Ataxia and Fragile X Syndrome

(2014) Matthias Groh et al.   PLoS Genetics

GC skew at the 5' and 3' ends of human genes links R-loop formation to epigenetic regulation and transcription termination

(2013) P. A. Ginno et al.   GENOME RESEARCH

Clinical use of frataxin measurement in a patient with a novel deletion in the FXN gene

(2012) Francesco Saccà et al.   JOURNAL OF NEUROLOGY

Friedreich's ataxia: Past, present and future

(2011) Daniele Marmolino   BRAIN RESEARCH REVIEWS

A Combined Nucleic Acid and Protein Analysis in Friedreich Ataxia: Implications for Diagnosis, Pathogenesis and Clinical Trial Design

(2011) Francesco Saccà et al.   PLoS One

Long intronic GAA repeats causing Friedreich ataxia impede transcription elongation

(2010) Tanel Punga et al.   EMBO Molecular Medicine

Epigenetic Silencing in Friedreich Ataxia Is Associated with Depletion of CTCF (CCCTC-Binding Factor) and Antisense Transcription

(2009) Irene De Biase et al.   PLoS One