Modeling diseases of noncoding unstable repeat expansions using mutant pluripotent stem cells

doi:10.4252/wjsc.v7.i5.823

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World Journal of Stem Cells

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1948-0210

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

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World J Stem Cells. Jun 26, 2015; 7(5): 823-838
Published online Jun 26, 2015. doi: 10.4252/wjsc.v7.i5.823

Table 1 Modeling unstable noncoding repeat expansions repeat pathologies using pluripotent stem cells

Disease	Molecular mechanism	Ref.
DM1	Toxic RNA gain-of-function	[45,46]
C9/ALS-FTD	Toxic RNA gain-of-function	[47-49,51-53]
FXS	Reaped-mediated epigenetic modifications	[17,62,69,71-76,78]
C9/ALS-FTD		[52]
FSHD		[92]
C9/ALS-FTD	RAN translation	[51,53]
FXS	Repeat instability	[17,69,127]
C9/ALS-FTD		[51]
FDRA		[124-126]
DM1		[119,120]

DM1: Myotonic dystrophy 1; C9/ALS-FTD: C9 related amyotrophic lateral sclerosis and/or frontotemporal dementia; FXS: Fragile X-syndrome; FSHD: Facioscapulohumeral muscular dystrophy; FDRA: Friedreich ataxia.

Citation: Yanovsky-Dagan S, Mor-Shaked H, Eiges R. Modeling diseases of noncoding unstable repeat expansions using mutant pluripotent stem cells. World J Stem Cells 2015; 7(5): 823-838
URL: https://www.wjgnet.com/1948-0210/full/v7/i5/823.htm
DOI: https://dx.doi.org/10.4252/wjsc.v7.i5.823