Results 31 to 40 of about 5,562 (221)

Friedreich ataxia patient tissues exhibit increased 5-hydroxymethylcytosine modification and decreased CTCF binding at the FXN locus [PDF]

, 2013
© 2013 Al-Mahdawi et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use,distribution, and reproduction in any medium, provided the original author and source are ...
Pook, MA, Sahar Al-Mahdawi, Mouro Pinto, R, Chiranjeevi Sandi, Sandi Chiranjeevi, Al-Mahdawi, S, Mouro Pinto Ricardo, Al-Mahdawi Sahar, Ricardo Mouro Pinto, Pook Mark A., Mark A Pook, Sandi, C   +11 more
core   +1 more source

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

, 2014
Inherited deficiency in the mitochondrial protein frataxin (FXN) causes the rare disease Friedreich's ataxia (FA), for which there is no successful treatment. We identified a redox deficiency in FA cells and used this to model the disease.
Perlman, SL, Cortopassi, Gino A, Brown, B, Perlman, Susan L, McMackin, Marissa Z, Pook, MA, Wulff, H, Pook, Mark A, Jasoliya, M, Scott, Brian D, Jasoliya, Mittal, Scott, BD, Wulff, Heike, Sahdeo, S, McMackin, MZ, Sahdeo, Sunil, Cortopassi, GA, Brown, Brandon   +17 more
core   +1 more source

Friedreich ataxia in a family from Mali, West Africa/Friedreich ataxia in a Malian family

Clinical Case Reports, 2021
Friedreich ataxia is the most common inherited ataxia in the world, but yet to be reported in black African. We report the first genetically confirmed case in a West African family.
Cheick A. K. Cissé, Lassana Cissé, Hamidou O. Ba, Oumar Samassékou, Assiatou Simaga, Abdoulaye Taméga, Salimata Diarra, Seybou H. Diallo, Thomas Coulibaly, Salimata Diallo, Abdoulaye Yalcouyé, Alassane B. Maiga, Mohamed Keita, Kenneth H. Fischbeck, Sékou F. Traoré, Cheick O. Guinto, Guida Landouré, from the H3Africa Consortium   +17 more
doaj   +1 more source

Epigenetics in Friedreich's ataxia: Challenges and opportunities for therapy [PDF]

, 2013
Copyright © 2013 Chiranjeevi Sandi et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly ...
Pook, MA, Al-Mahdawi, S, Sandi, C
core   +1 more source

Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life

, 2007
Friedreich ataxia (FRDA) patients are homozygous for expanded GAA triplet-repeat alleles in the FXN gene. Primary neurodegeneration involving the dorsal root ganglia (DRG) results in progressive ataxia.
Ramussen, A, De Biase, Irene, Monticelli, A, Bidichandani, Sanjay I., De Biase, I, Al-Mahdawi, S, Pook, Mark, Cocozza, S, Al-Mahdawi, Sahar, Pook, M A, Bidichandani, S, Monticelli, Antonella, Cocozza, Sergio, Rasmussen, Astrid   +13 more
core   +1 more source

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

, 2014
© The Author 2014. Published by Oxford University Press This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution,
Pedersen, TL, Cortopassi, G, Newman, John W, Shen, Yan, Pedersen, Theresa L, Pook, Mark, Hayashi, G, Newman, JW, Pook, M, Hayashi, Genki, Cortopassi, Gino, Shen, Y   +11 more
core   +1 more source

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

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   +1 more source

Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very Rare

Frontiers in Cellular Neuroscience, 2018
Friedreich ataxia is a multi-system autosomal recessive inherited disorder primarily caused by homozygous GAA repeat expansion mutations within intron 1 of the frataxin gene. The resulting deficiency of frataxin protein leads to progressive mitochondrial
Sahar Al-Mahdawi, Sahar Al-Mahdawi, Heather Ging, Aurelien Bayot, Francesca Cavalcanti, Valentina La Cognata, Sebastiano Cavallaro, Paola Giunti, Mark A. Pook, Mark A. Pook   +9 more
doaj   +1 more source

Diagnosing Friedreich's ataxia [PDF]

Archives of Disease in Childhood, 1998
Clinical diagnosis is still of the utmost importance and following our review of cases diagnosed using the strict criteria, 100% were homozygous for the expansion. However, now that there is a relatively simple direct genetic test, the diagnosis can be considered in more unusual cases.
openaire   +2 more sources

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

, 2011
NOTICE: this is the author’s version of a work that was accepted for publication in Neurobiology of Disease. Changes resulting from the publishing process, such as peer review, editing, corrections, structural formatting, and other quality control ...
Ezzatizadeh, V, Rusche, James R., Steve Jones, James R. Rusche, Gottesfeld, Joel M., Jones, S, Sandi, C, Barnes, Glenn, Joel M. Gottesfeld, Pook, MA, Pinto, RM, Al-Mahdawi, Sahar, Chiranjeevi Sandi, Sandi, Chiranjeevi, Barnes, G, Mark A. Pook, Pinto, Ricardo Mouro, Al-Mahdawi, S, Jones, Steve, Pook, Mark A., Vahid Ezzatizadeh, Ezzatizadeh, Vahid, Sahar Al-Mahdawi, Rusche, JR, Ricardo Mouro Pinto, Gottesfeld, JM, Glenn Barnes   +26 more
core   +1 more source