Mark Pook
Mark Pook
Reader in Biosciences, Brunel University
Verified email at brunel.ac.uk
Title
Cited by
Cited by
Year
The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues
S Al-Mahdawi, RM Pinto, O Ismail, D Varshney, S Lymperi, C Sandi, ...
Human molecular genetics 17 (5), 735-746, 2008
2602008
GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology
S Al-Mahdawi, RM Pinto, D Varshney, L Lawrence, MB Lowrie, S Hughes, ...
Genomics 88 (5), 580-590, 2006
2272006
Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 3
X Chen, TS Tang, H Tu, O Nelson, M Pook, R Hammer, N Nukina, ...
Journal of Neuroscience 28 (48), 12713-12724, 2008
1992008
YAC transgenic mice carrying pathological alleles of the MJD1 locus exhibit a mild and slowly progressive cerebellar deficit
CK Cemal, CJ Carroll, L Lawrence, MB Lowrie, P Ruddle, S Al-Mahdawi, ...
Human molecular genetics 11 (9), 1075-1094, 2002
1902002
Association of somatotrophinomas with loss of alleles on chromosome 11 and with gsp mutations.
RV Thakker, MA Pook, C Wooding, M Boscaro, M Scanarini, RN Clayton
The Journal of clinical investigation 91 (6), 2815-2821, 1993
1541993
Progressive GAA expansions in dorsal root ganglia of Friedreich's ataxia patients
I De Biase, A Rasmussen, D Endres, S Al‐Mahdawi, A Monticelli, ...
Annals of neurology 61 (1), 55-60, 2007
1172007
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, G Barnes, S Jones, ...
Neurobiology of disease 42 (3), 496-505, 2011
1092011
Frataxin deficiency leads to defects in expression of antioxidants and Nrf2 expression in dorsal root ganglia of the Friedreich's ataxia YG8R mouse model
Y Shan, RA Schoenfeld, G Hayashi, E Napoli, T Akiyama, M Iodi Carstens, ...
Antioxidants & redox signaling 19 (13), 1481-1493, 2013
1072013
Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11. 22
MA Pook, O Wrong, C Wooding, AGW Norden, TG Feest, RV Thakker
Human molecular genetics 2 (12), 2129-2134, 1993
1001993
GAA repeat instability in Friedreich ataxia YAC transgenic mice
S Al-Mahdawi, RM Pinto, P Ruddle, C Carroll, Z Webster, M Pook
Genomics 84 (2), 301-310, 2004
982004
Mapping the gene causing X-linked recessive nephrolithiasis to Xp11. 22 by linkage studies.
SJ Scheinman, MA Pook, C Wooding, JT Pang, PA Frymoyer, RV Thakker
The Journal of clinical investigation 91 (6), 2351-2357, 1993
901993
The 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 model
RM Clark, I De Biase, AP Malykhina, S Al-Mahdawi, M Pook, ...
Human genetics 120 (5), 633-640, 2007
862007
Rescue of the Friedreich's ataxia knockout mouse by human YAC transgenesis
MA Pook, S Al-Mahdawi, CJ Carroll, M Cossée, H Puccio, L Lawrence, ...
Neurogenetics 3 (4), 185-193, 2001
852001
Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life
I De Biase, A Rasmussen, A Monticelli, S Al-Mahdawi, M Pook, ...
Genomics 90 (1), 1-5, 2007
812007
The Friedreich's ataxia gene encodes a novel phosphatidylinositol–4–phosphate 5–kinase
JJ Carvajal, MA Pook, M dos Santos, K Doudney, R Hillermann, ...
Nature genetics 14 (2), 157-162, 1996
801996
The emerging role of 5-hydroxymethylcytosine in neurodegenerative diseases
S Al-Mahdawi, SA Virmouni, MA Pook
Frontiers in neuroscience 8, 397, 2014
792014
Defining a metabolic phenotype in the brain of a transgenic mouse model of spinocerebellar ataxia 3
JL Griffin, CK Cemal, MA Pook
Physiological genomics 16 (3), 334-340, 2004
742004
Heterochromatinization induced by GAA-repeat hyperexpansion in Friedreich's ataxia can be reduced upon HDAC inhibition by vitamin B3
PK Chan, R Torres, C Yandim, PP Law, S Khadayate, M Mauri, C Grosan, ...
Human molecular genetics 22 (13), 2662-2675, 2013
722013
'Mitochondrial energy imbalance and lipid peroxidation cause cell death in Friedreich’s ataxia'
R Abeti, MH Parkinson, IP Hargreaves, PR Angelova, C Sandi, MA Pook, ...
Cell death & disease 7 (5), e2237-e2237, 2016
692016
Animal and cellular models of Friedreich ataxia
M Perdomini, A Hick, H Puccio, MA Pook
Journal of neurochemistry 126, 65-79, 2013
662013
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