Browsing by Author Pook, MA

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Issue DateTitleAuthor(s)
8-Jan-2018Effect of diazoxide on Friedreich ataxia modelsSantoro, A; Virmouni, SA; Paradies, E; Coa, VLV; Al-Mahdawi, S; Khoo, M; Porcelli, V; Vozza, A; Perrone, M; Denora, N; Taroni, F; Merla, G; Palmieri, L; Pook, MA; Marobbio, CMT
2014The emerging role of 5-hydroxymethylcytosine in neurodegenerative diseasesAl-Mahdawi, S; Virmouni, SA; Pook, MA
2014Epigenetic-based therapies for Friedreich ataxiaSandi, C; Sandi, M; Virmouni, SA; Al-Mahdawi, S; Pook, MA
2013Epigenetics in Friedreich's ataxia: Challenges and opportunities for therapySandi, C; Al-Mahdawi, S; Pook, MA
13-Jun-2022Frataxin Deficit Leads to Reduced Dynamics of Growth Cones in Dorsal Root Ganglia Neurons of Friedreich’s Ataxia YG8sR Model: A Multilinear Algebra ApproachMollá, B; Sáenz-Gamboa, JJ; Insuasty, E; de la Iglesia-Vaya, M; Pook, MA; Pallardó, FV; Palau, F; Gonzalez-Cabo, P
2007The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissuesPook, MA; Al-Mahdawi, S; Mouro Pinto, R; Sandi, C; Trabzuni, D
2013Friedreich ataxia patient tissues exhibit increased 5-hydroxymethylcytosine modification and decreased CTCF binding at the FXN locusAl-Mahdawi, S; Sandi, C; Mouro Pinto, R; Pook, MA
2015FXN promoter silencing in the humanized mouse model of Friedreich AtaxiaChutake, YK; Costello, WN; Lam, CC; Parikh, AC; Hughes, TT; Michalopulos, MG; Pook, MA; Bidichandani, SI
2006GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathologyPook, MA; Al-Mahdawi, S; Mouro Pinto, R
2006The GAA triplet-repeat is unstable in the context of the human FXN locus and displays age-dependent expansions in cerebellum and DRG in a transgenic mouse modelPook, MA; Clark, RM; De Biase, I; Al-Mahdawi, S; Malykhina, AP; Bidichandani, S
2014Generation and characterisation of Friedreich ataxia YG8R mouse fibroblast and neural stem cell modelsSandi, C; Sandi, M; Jassal, H; Ezzatizadeh, V; Anjomani-Virmouni, S; Al-Mahdawi, S; Pook, MA
12-Jul-2021Interruptions of the FXN GAA Repeat Tract Delay the Age at Onset of Friedreich’s Ataxia in a Location Dependent MannerNethisinghe, S; Kesavan, M; Ging, H; Labrum, R; Polke, JM; Islam, S; Garcia-Moreno, H; Callaghan, MF; Cavalcanti, F; Pook, MA; Giunti, P
15-Aug-2016Lentivirus-meditated frataxin gene delivery reverses genome instability in Friedreich ataxia patient and mouse model fibroblastsKhonsari, H; Schneider, M; Al-Mahdawi, S; Chianea, YG; Themis, M; Parris, C; Pook, MA; Themis, M
2012The mismatch repair system protects against intergenerational GAA repeat instability in a Friedreich ataxia mouse modelEzzatizadeh, V; Pinto, RM; Sandi, C; Sandi, M; Al-Mahdawi, S; Te Riele, H; Pook, MA
-'Mitochondrial energy imbalance and lipid peroxidation cause cell death in Friedreich's ataxia'Parkinson, MH; Hargreaves, IP; Angelova, PR; Sandi, C; Pook, MA; Giunti, P; Abramov, AY
2014MutLα heterodimers modify the molecular phenotype of Friedreich ataxiaEzzatizadeh, V; Sandi, C; Sandi, M; Anjomani-Virmouni, S; Al-Mahdawi, S; Pook, MA
26-Jan-2023A new FRDA mouse model [Fxnnull:YG8s(GAA) > 800] with more than 800 GAA repeatsKalef-Ezra, E; Edzeamey, FJ; Valle, A; Khonsari, H; Kleine, P; Oggianu, C; Al-Mahdawi, S; Pook, MA; Anjomani Virmouni, S
2012Novel frataxin isoforms may contribute to the pathological mechanism of friedreich ataxiaXia, H; Cao, Y; Dai, X; Marelja, Z; Zhou, D; Mo, R; Al-Mahdawi, S; Pook, MA; Leimkühler, S; Rouault, TA; Li, K
2015A novel GAA-repeat-expansion-based mouse model of Friedreich's ataxia.Anjomani Virmouni, S; Ezzatizadeh, V; Sandi, C; Sandi, M; Al-Mahdawi, S; Chutake, Y; Pook, MA
2013Pharmacological screening using an FXN-EGFP cellular genomic reporter assay for the therapy of Friedreich ataxiaLi, L; Voullaire, L; Sandi, C; Pook, MA; Ioannou, PA; Delatycki, MB; Sarsero, JP