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

by Sahar Al-Mahdawi, Chiranjeevi Sandi, Ricardo Mouro Pinto, Mark A Pook
Published 2013-01-01

Cellular, molecular and functional characterisation of YAC transgenic mouse models of Friedreich ataxia.

by Sara Anjomani Virmouni, Chiranjeevi Sandi, Sahar Al-Mahdawi, Mark A Pook
Published 2014-01-01

Comparative (Computational) Analysis of the DNA Methylation Status of Trinucleotide Repeat Expansion Diseases

by Mohammadmersad Ghorbani, Simon J. E. Taylor, Mark A. Pook, Annette Payne
Published 2013-01-01

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

by 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
Published 2018-11-01

MutLα heterodimers modify the molecular phenotype of Friedreich ataxia.

by Vahid Ezzatizadeh, Chiranjeevi Sandi, Madhavi Sandi, Sara Anjomani-Virmouni, Sahar Al-Mahdawi, Mark A Pook
Published 2014-01-01

A novel GAA-repeat-expansion-based mouse model of Friedreich’s ataxia

by Sara Anjomani Virmouni, Vahid Ezzatizadeh, Chiranjeevi Sandi, Madhavi Sandi, Sahar Al-Mahdawi, Yogesh Chutake, Mark A. Pook
Published 2015-03-01

Generation and characterisation of Friedreich ataxia YG8R mouse fibroblast and neural stem cell models.

by Chiranjeevi Sandi, Madhavi Sandi, Harvinder Jassal, Vahid Ezzatizadeh, Sara Anjomani-Virmouni, Sahar Al-Mahdawi, Mark A Pook
Published 2014-01-01

Pharmacological screening using an FXN-EGFP cellular genomic reporter assay for the therapy of Friedreich ataxia.

by Lingli Li, Lucille Voullaire, Chiranjeevi Sandi, Mark A Pook, Panos A Ioannou, Martin B Delatycki, Joseph P Sarsero
Published 2013-01-01

The mismatch repair system protects against intergenerational GAA repeat instability in a Friedreich ataxia mouse model

by Vahid Ezzatizadeh, Ricardo Mouro Pinto, Chiranjeevi Sandi, Madhavi Sandi, Sahar Al-Mahdawi, Hein te Riele, Mark A. Pook
Published 2012-04-01

Pms2 suppresses large expansions of the (GAA·TTC)n sequence in neuronal tissues.

by Rebecka L Bourn, Irene De Biase, Ricardo Mouro Pinto, Chiranjeevi Sandi, Sahar Al-Mahdawi, Mark A Pook, Sanjay I Bidichandani
Published 2012-01-01

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

by Yogesh K Chutake, Whitney N Costello, Christina C Lam, Aniruddha C Parikh, Tamara T Hughes, Michael G Michalopulos, Mark A Pook, Sanjay I Bidichandani
Published 2015-01-01

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

by Chiranjeevi Sandi, Ricardo Mouro Pinto, Sahar Al-Mahdawi, Vahid Ezzatizadeh, Glenn Barnes, Steve Jones, James R. Rusche, Joel M. Gottesfeld, Mark A. Pook
Published 2011-06-01

Novel frataxin isoforms may contribute to the pathological mechanism of Friedreich ataxia.

by Haiyan Xia, Yun Cao, Xiaoman Dai, Zvonimir Marelja, Di Zhou, Ran Mo, Sahar Al-Mahdawi, Mark A Pook, Silke Leimkühler, Tracey A Rouault, Kuanyu Li
Published 2012-01-01

Interruptions of the <i>FXN</i> GAA Repeat Tract Delay the Age at Onset of Friedreich’s Ataxia in a Location Dependent Manner

by Suran Nethisinghe, Maheswaran Kesavan, Heather Ging, Robyn Labrum, James M. Polke, Saiful Islam, Hector Garcia-Moreno, Martina F. Callaghan, Francesca Cavalcanti, Mark A. Pook, Paola Giunti
Published 2021-07-01