Results 1 to 10 of about 9,290 (208)

FXN Promoter Silencing in the Humanized Mouse Model of Friedreich Ataxia. [PDF]

PLoS ONE, 2015
BackgroundFriedreich ataxia is caused by an expanded GAA triplet-repeat sequence in intron 1 of the FXN gene that results in epigenetic silencing of the FXN promoter. This silencing mechanism is seen in patient-derived lymphoblastoid cells but it remains
Yogesh K Chutake, Whitney N Costello, Christina C Lam, Aniruddha C Parikh, Tamara T Hughes, Michael G Michalopulos, Mark A Pook, Sanjay I Bidichandani   +7 more
doaj   +30 more sources

Epigenetic-based therapies for Friedreich ataxia [PDF]

Frontiers in Genetics, 2014
Friedreich ataxia (FRDA) is a lethal autosomal recessive neurodegenerative disorder caused primarily by a homozygous GAA repeat expansion mutation within the first intron of the FXN gene, leading to inhibition of FXN transcription and thus reduced ...
Chiranjeevi eSandi, Chiranjeevi eSandi, Madhavi eSandi, Sara eAnjomani-Virmouni, Sahar eAl-Mahdawi, Mark Adrian Pook   +5 more
doaj   +4 more sources

Perspectives of the Friedreich ataxia community on gene therapy clinical trials [PDF]

Molecular Therapy: Methods & Clinical Development
Gene therapy is a potential treatment for Friedreich ataxia, with multiple programs on the horizon. The purpose of this study was to collect opinions about gene therapy from individuals 14 years or older with Friedreich ataxia or parents/caregivers of ...
Shandra J. Trantham, Mackenzi A. Coker, Samantha Norman, Emma Crowley, Julie Berthy, Barry J. Byrne, Sub Subramony, XiangYang Lou, Manuela Corti   +8 more
doaj   +2 more sources

Auditory neuropathy in mice and humans with Friedreich ataxia

Annals of Clinical and Translational Neurology, 2023
Objective Recent studies have found that human Friedreich ataxia patients have dysfunction of transmission in the auditory neural pathways. Here, we characterize hearing deficits in a mouse model of Friedreich ataxia and compare these to a clinical ...
Gary Rance, Peter Carew, Leon Winata, Phillip Sale, Martin Delatycki, David Sly   +5 more
doaj   +1 more source

Left atrial appendage thrombosis in a patient with Friedreich Ataxia–related cardiomyopathy, left ventricular systolic dysfunction, and atrial fibrillation

SAGE Open Medical Case Reports, 2021
Friedreich ataxia is the most common form of hereditary ataxia. Heart involvement in Friedreich ataxia is common and can include increased left ventricular wall thickness, atrial fibrillation, and in the later stages, a reduction of left ventricular ...
Michele Russo, Annachiara Nuzzo, Matteo Foschi, Simona Boarin, Stefano Lorenzetti, Corrado Tomasi, Pietro Querzani, Andrea Rubboli   +7 more
doaj   +1 more source

DNA methylation and trinucleotide repeat expansion diseases [PDF]

, 2012
Copyright @ 2012 InTechThis article has been made available through the Brunel Open Access Publishing Fund.This article is made available through the Brunel Open Access Publishing ...
Pook, M
core   +2 more sources

Frataxin deficiency increases cyclooxygenase 2 and prostaglandins in cell and animal models of Friedreich's ataxia. [PDF]

, 2014
An inherited deficiency of the mitochondrial protein frataxin causes Friedreich's ataxia (FRDA); the mechanism by which this deficiency triggers neuro- and cardio-degeneration is unclear.
Cortopassi, Gino, Hayashi, Genki, Newman, John W, Pedersen, Theresa L, Pook, Mark, Shen, Yan   +5 more
core   +4 more sources

Anesthetic Management on a Patient with Friedreich’s Ataxia

Medicine Science, 2013
Friedreich’s ataxia is a rare (1:50 000) autosomal recessively inherited neurodegenerative disorder. Findings such as weakness in skeletal muscles, progressive difficulty in walking and extremity ataxia are prominent. Problems such as cardiac, endocrine,
Ulku Ozgul, Mehmet Ali Erdogan, Mustafa Said Aydogan, Mehmet Fatih Korkmaz, Hamza Nakir, Mahmut Durmus   +5 more
doaj   +1 more source

Insights into the role of oxidative stress in the pathology of Friedreich ataxia using peroxidation resistant polyunsaturated fatty acids

Redox Biology, 2013
Friedreich ataxia is an autosomal recessive, inherited neuro- and cardio-degenerative disorder characterized by progressive ataxia of all four limbs, dysarthria, areflexia, sensory loss, skeletal deformities, and hypertrophic cardiomyopathy. Most disease
M. Grazia Cotticelli, Andrew M. Crabbe, Robert B. Wilson, Mikhail S. Shchepinov   +3 more
doaj   +1 more source

Increased brain tissue sodium concentration in Friedreich ataxia: A multimodal MR imaging study

NeuroImage: Clinical, 2022
In patients with Friedreich ataxia, structural MRI is typically used to detect abnormalities primarily in the brainstem, cerebellum, and spinal cord. The aim of the present study was to additionally investigate possible metabolic changes in Friedreich ...
Janna Krahe, Imis Dogan, Claire Didszun, Shahram Mirzazade, Alexa Haeger, Nadim Joni Shah, Ilaria A. Giordano, Thomas Klockgether, Guillaume Madelin, Jörg B. Schulz, Sandro Romanzetti, Kathrin Reetz   +11 more
doaj   +1 more source