Pook M - Search Results

1

Heterochromatinization induced by GAA-repeat hyperexpansion in Friedreich's ataxia can be reduced upon HDAC inhibition by vitamin B3.

Chan PK, Torres R, Yandim C, Law PP, Khadayate S, Mauri M, Grosan C, Chapman-Rothe N, Giunti P, Pook M, Festenstein R. Chan PK, et al. Among authors: pook m. Hum Mol Genet. 2013 Jul 1;22(13):2662-75. doi: 10.1093/hmg/ddt115. Epub 2013 Mar 7. Hum Mol Genet. 2013. PMID: 23474817

2

Friedreich's ataxia: a defect in signal transduction?

Carvajal JJ, Pook MA, Doudney K, Hillermann R, Wilkes D, al-Mahdawi S, Williamson R, Chamberlain S. Carvajal JJ, et al. Among authors: pook ma. Hum Mol Genet. 1995 Aug;4(8):1411-9. doi: 10.1093/hmg/4.8.1411. Hum Mol Genet. 1995. PMID: 7581382

3

The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4- phosphate 5-kinase.

Carvajal JJ, Pook MA, dos Santos M, Doudney K, Hillermann R, Minogue S, Williamson R, Hsuan JJ, Chamberlain S. Carvajal JJ, et al. Among authors: pook ma. Nat Genet. 1996 Oct;14(2):157-62. doi: 10.1038/ng1096-157. Nat Genet. 1996. PMID: 8841185

4

A novel missense mutation (L198R) in the Friedreich's ataxia gene.

Al-Mahdawi S, Pook M, Chamberlain S. Al-Mahdawi S, et al. Among authors: pook m. Hum Mutat. 2000 Jul;16(1):95. doi: 10.1002/1098-1004(200007)16:1<95::AID-HUMU29>3.0.CO;2-E. Hum Mutat. 2000. PMID: 10874325 No abstract available.

5

GAA repeat instability in Friedreich ataxia YAC transgenic mice.

Al-Mahdawi S, Pinto RM, Ruddle P, Carroll C, Webster Z, Pook M. Al-Mahdawi S, et al. Among authors: pook m. Genomics. 2004 Aug;84(2):301-10. doi: 10.1016/j.ygeno.2004.04.003. Genomics. 2004. PMID: 15233994

6

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.

Clark RM, De Biase I, Malykhina AP, Al-Mahdawi S, Pook M, Bidichandani SI. Clark RM, et al. Among authors: pook m. Hum Genet. 2007 Jan;120(5):633-40. doi: 10.1007/s00439-006-0249-3. Epub 2006 Sep 21. Hum Genet. 2007. PMID: 17024371

7

The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues.

Al-Mahdawi S, Pinto RM, Ismail O, Varshney D, Lymperi S, Sandi C, Trabzuni D, Pook M. Al-Mahdawi S, et al. Among authors: pook m. Hum Mol Genet. 2008 Mar 1;17(5):735-46. doi: 10.1093/hmg/ddm346. Epub 2007 Nov 27. Hum Mol Genet. 2008. PMID: 18045775

8

Interferon gamma upregulates frataxin and corrects the functional deficits in a Friedreich ataxia model.

Tomassini B, Arcuri G, Fortuni S, Sandi C, Ezzatizadeh V, Casali C, Condò I, Malisan F, Al-Mahdawi S, Pook M, Testi R. Tomassini B, et al. Among authors: pook m. Hum Mol Genet. 2012 Jul 1;21(13):2855-61. doi: 10.1093/hmg/dds110. Epub 2012 Mar 23. Hum Mol Genet. 2012. PMID: 22447512 Free PMC article.

9

Epigenetic-based therapies for Friedreich ataxia.

Sandi C, Sandi M, Anjomani Virmouni S, Al-Mahdawi S, Pook MA. Sandi C, et al. Among authors: pook ma. Front Genet. 2014 Jun 3;5:165. doi: 10.3389/fgene.2014.00165. eCollection 2014. Front Genet. 2014. PMID: 24917884 Free PMC article. Review.

10

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

Hayashi G, Shen Y, Pedersen TL, Newman JW, Pook M, Cortopassi G. Hayashi G, et al. Among authors: pook m. Hum Mol Genet. 2014 Dec 20;23(25):6838-47. doi: 10.1093/hmg/ddu407. Epub 2014 Aug 7. Hum Mol Genet. 2014. PMID: 25104852 Free PMC article.

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