Mark Pook
Mark Pook
Reader in Biosciences, Brunel University
Verified email at brunel.ac.uk
TitleCited byYear
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, 2007
2262007
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
2022006
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
1672002
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
1652008
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
1511993
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
1062007
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
972011
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
971993
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
922004
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
831993
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
762013
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, 1996
751996
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
742007
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
742001
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
732004
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
722007
The emerging role of 5-hydroxymethylcytosine in neurodegenerative diseases
S Al-Mahdawi, SA Virmouni, MA Pook
Frontiers in neuroscience 8, 397, 2014
632014
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
582013
Animal and cellular models of Friedreich ataxia
M Perdomini, A Hick, H Puccio, MA Pook
Journal of neurochemistry 126, 65-79, 2013
532013
The mismatch repair system protects against intergenerational GAA repeat instability in a Friedreich ataxia mouse model
V Ezzatizadeh, RM Pinto, C Sandi, M Sandi, S Al-Mahdawi, H te Riele, ...
Neurobiology of disease 46 (1), 165-171, 2012
472012
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