Autosomal recessive cerebellar ataxias: paving the way toward targeted molecular therapies

M Synofzik, H Puccio, F Mochel, L Schöls - Neuron, 2019 - cell.com
Autosomal-recessive cerebellar ataxias (ARCAs) comprise a heterogeneous group of rare
degenerative and metabolic genetic diseases that share the hallmark of progressive …

Drug development for the therapy of mitochondrial diseases

V Weissig - Trends in molecular medicine, 2020 - cell.com
Mitochondrial diseases are a heterogeneous group of inherited or acquired devastating
disorders that affect the energy metabolism of the body. Many strategies have been …

Recessive cerebellar and afferent ataxias—clinical challenges and future directions

M Beaudin, M Manto, JD Schmahmann… - Nature Reviews …, 2022 - nature.com
Cerebellar and afferent ataxias present with a characteristic gait disorder that reflects
cerebellar motor dysfunction and sensory loss. These disorders are a diagnostic challenge …

Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities

R Santos, S Lefevre, D Sliwa, A Seguin… - Antioxidants & redox …, 2010 - liebertpub.com
Mitochondrial dysfunction and oxidative damage are at the origin of numerous
neurodegenerative diseases like Friedreich ataxia and Alzheimer and Parkinson diseases …

Cerebellar ataxias

M Manto, D Marmolino - Current opinion in neurology, 2009 - journals.lww.com
Cerebellar ataxias : Current Opinion in Neurology Cerebellar ataxias : Current Opinion in
Neurology Log in or Register Subscribe to journalSubscribe Get new issue alertsGet alerts …

Friedreich's ataxia: past, present and future

D Marmolino - Brain research reviews, 2011 - Elsevier
Friedreich's ataxia (FRDA) is an autosomal recessive inherited disorder characterized by
progressive gait and limb ataxia, dysarthria, areflexia, loss of vibratory and position sense …

[HTML][HTML] Prolonged treatment with pimelic o-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse model

C Sandi, RM Pinto, S Al-Mahdawi, V Ezzatizadeh… - Neurobiology of …, 2011 - Elsevier
Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder caused by GAA repeat
expansion within the FXN gene, leading to epigenetic changes and heterochromatin …

[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 …

Erythropoietin and the heart: physiological effects and the therapeutic perspective

F Sanchis-Gomar, JL Garcia-Gimenez… - International journal of …, 2014 - Elsevier
Erythropoietin (Epo) has been thought to act exclusively on erythroid progenitor cells. The
identification of Epo receptor (EpoR) in non-haematopoietic cells and tissues including …

A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich ataxia

EC Deutsch, AB Santani, SL Perlman… - Molecular genetics and …, 2010 - Elsevier
Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by
reduced amounts of the mitochondrial protein frataxin. Frataxin levels in research studies …