Format
Items per page
Sort by

Send to:

Choose Destination

Links from PubMed

Items: 1 to 20 of 34

1.

Expanded GAA repeats impede transcription elongation through the FXN gene and induce transcriptional silencing that is restricted to the FXN locus.

Li Y, Lu Y, Polak U, Lin K, Shen J, Farmer J, Seyer L, Bhalla AD, Rozwadowska N, Lynch DR, Butler JS, Napierala M.

Hum Mol Genet. 2015 Dec 15;24(24):6932-43. doi: 10.1093/hmg/ddv397. Epub 2015 Sep 23.

PMID:
26401053
2.

Frataxin levels in peripheral tissue in Friedreich ataxia.

Lazaropoulos M, Dong Y, Clark E, Greeley NR, Seyer LA, Brigatti KW, Christie C, Perlman SL, Wilmot GR, Gomez CM, Mathews KD, Yoon G, Zesiewicz T, Hoyle C, Subramony SH, Brocht AF, Farmer JM, Wilson RB, Deutsch EC, Lynch DR.

Ann Clin Transl Neurol. 2015 Aug;2(8):831-42. doi: 10.1002/acn3.225. Epub 2015 Jul 1.

3.

Stable isotopes and LC-MS for monitoring metabolic disturbances in Friedreich's ataxia platelets.

Worth AJ, Basu SS, Deutsch EC, Hwang WT, Snyder NW, Lynch DR, Blair IA.

Bioanalysis. 2015;7(15):1843-55. doi: 10.4155/bio.15.118.

4.

The Repeat Expansion Diseases: The dark side of DNA repair.

Zhao XN, Usdin K.

DNA Repair (Amst). 2015 Aug;32:96-105. doi: 10.1016/j.dnarep.2015.04.019. Epub 2015 Apr 30. Review.

PMID:
26002199
5.

Coupling transcriptional state to large-scale repeat expansions in yeast.

Shah KA, McGinty RJ, Egorova VI, Mirkin SM.

Cell Rep. 2014 Dec 11;9(5):1594-602. doi: 10.1016/j.celrep.2014.10.048. Epub 2014 Nov 20.

6.

Epigenetic promoter silencing in Friedreich ataxia is dependent on repeat length.

Chutake YK, Lam C, Costello WN, Anderson M, Bidichandani SI.

Ann Neurol. 2014 Oct;76(4):522-8. doi: 10.1002/ana.24249. Epub 2014 Aug 30.

7.

MutLα heterodimers modify the molecular phenotype of Friedreich ataxia.

Ezzatizadeh V, Sandi C, Sandi M, Anjomani-Virmouni S, Al-Mahdawi S, Pook MA.

PLoS One. 2014 Jun 27;9(6):e100523. doi: 10.1371/journal.pone.0100523. eCollection 2014.

8.

Base excision repair of chemotherapeutically-induced alkylated DNA damage predominantly causes contractions of expanded GAA repeats associated with Friedreich's ataxia.

Lai Y, Beaver JM, Lorente K, Melo J, Ramjagsingh S, Agoulnik IU, Zhang Z, Liu Y.

PLoS One. 2014 Apr 1;9(4):e93464. doi: 10.1371/journal.pone.0093464. eCollection 2014.

9.

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

Sandi C, Sandi M, Jassal H, Ezzatizadeh V, Anjomani-Virmouni S, Al-Mahdawi S, Pook MA.

PLoS One. 2014 Feb 21;9(2):e89488. doi: 10.1371/journal.pone.0089488. eCollection 2014.

10.

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

Al-Mahdawi S, Sandi C, Mouro Pinto R, Pook MA.

PLoS One. 2013 Sep 4;8(9):e74956. doi: 10.1371/journal.pone.0074956. eCollection 2013.

11.

Neurodegeneration in Friedreich's ataxia: from defective frataxin to oxidative stress.

Gomes CM, Santos R.

Oxid Med Cell Longev. 2013;2013:487534. doi: 10.1155/2013/487534. Epub 2013 Jul 9. Review.

12.

Complexes between two GAA Repeats within DNA introduced into Cos-1 cells.

Krasilnikova MM.

Mob Genet Elements. 2012 Nov 1;2(6):267-271.

13.

Friedreich ataxia: neuropathology revised.

Koeppen AH, Mazurkiewicz JE.

J Neuropathol Exp Neurol. 2013 Feb;72(2):78-90. doi: 10.1097/NEN.0b013e31827e5762. Review.

14.

Transcription elongation and tissue-specific somatic CAG instability.

Goula AV, Stys A, Chan JP, Trottier Y, Festenstein R, Merienne K.

PLoS Genet. 2012;8(11):e1003051. doi: 10.1371/journal.pgen.1003051. Epub 2012 Nov 29.

15.

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

Bourn RL, De Biase I, Pinto RM, Sandi C, Al-Mahdawi S, Pook MA, Bidichandani SI.

PLoS One. 2012;7(10):e47085. doi: 10.1371/journal.pone.0047085. Epub 2012 Oct 11.

16.

Genome-wide screen identifies pathways that govern GAA/TTC repeat fragility and expansions in dividing and nondividing yeast cells.

Zhang Y, Shishkin AA, Nishida Y, Marcinkowski-Desmond D, Saini N, Volkov KV, Mirkin SM, Lobachev KS.

Mol Cell. 2012 Oct 26;48(2):254-65. doi: 10.1016/j.molcel.2012.08.002. Epub 2012 Sep 6.

17.

Somatic expansion in mouse and human carriers of fragile X premutation alleles.

Lokanga RA, Entezam A, Kumari D, Yudkin D, Qin M, Smith CB, Usdin K.

Hum Mutat. 2013 Jan;34(1):157-66. doi: 10.1002/humu.22177. Epub 2012 Oct 4.

18.

Unanswered questions in Friedreich ataxia.

Lynch DR, Deutsch EC, Wilson RB, Tennekoon G.

J Child Neurol. 2012 Sep;27(9):1223-9. doi: 10.1177/0883073812453498. Epub 2012 Jul 25. Review.

19.

DNA mismatch repair complex MutSβ promotes GAA·TTC repeat expansion in human cells.

Halabi A, Ditch S, Wang J, Grabczyk E.

J Biol Chem. 2012 Aug 24;287(35):29958-67. doi: 10.1074/jbc.M112.356758. Epub 2012 Jul 11.

20.

Cardiomyopathy in Friedreich ataxia: clinical findings and research.

Payne RM, Wagner GR.

J Child Neurol. 2012 Sep;27(9):1179-86. doi: 10.1177/0883073812448535. Epub 2012 Jul 4. Review.

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk