Search Results - "Simard, Jodie P"
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MSH3 polymorphisms and protein levels affect CAG repeat instability in Huntington's disease mice
Published in PLoS genetics (01-02-2013)“…Expansions of trinucleotide CAG/CTG repeats in somatic tissues are thought to contribute to ongoing disease progression through an affected individual's life…”
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Huntington's and myotonic dystrophy hESCs: down-regulated trinucleotide repeat instability and mismatch repair machinery expression upon differentiation
Published in Human molecular genetics (01-01-2011)“…Huntington's disease (HD) and myotonic dystrophy (DM1) are caused by trinucleotide repeat expansions. The repeats show different instability patterns according…”
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3
Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich's ataxia
Published in Disease models & mechanisms (01-05-2013)“…Friedreich's ataxia (FRDA) is a recessive neurodegenerative disorder commonly associated with hypertrophic cardiomyopathy. FRDA is due to expanded GAA repeats…”
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Isolated short CTG/CAG DNA slip-outs are repaired efficiently by hMutSβ, but clustered slip-outs are poorly repaired
Published in Proceedings of the National Academy of Sciences - PNAS (13-07-2010)“…Expansions of CTG/CAG trinucleotide repeats, thought to involve slipped DNAs at the repeats, cause numerous diseases including myotonic dystrophy and…”
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5
Tissue-specific mismatch repair protein expression: MSH3 is higher than MSH6 in multiple mouse tissues
Published in DNA repair (01-01-2013)“…► mMSH2, mMSH3 and mMSH6 protein expression is variable between tissue types. ► mMSH3 protein expression is higher than mMSH6 expression in most tissues…”
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Human Mismatch Repair Protein hMutLα Is Required to Repair Short Slipped-DNAs of Trinucleotide Repeats
Published in The Journal of biological chemistry (07-12-2012)“…Mismatch repair (MMR) is required for proper maintenance of the genome by protecting against mutations. The mismatch repair system has also been implicated as…”
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Expression levels of DNA replication and repair genes predict regional somatic repeat instability in the brain but are not altered by polyglutamine disease protein expression or age
Published in Human molecular genetics (15-03-2014)“…Expansion of CAG/CTG trinucleotide repeats causes numerous inherited neurological disorders, including Huntington's disease (HD), several spinocerebellar…”
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8
Overexpression of HSP70 inhibits cofilin phosphorylation and promotes lymphocyte migration in heat-stressed cells
Published in Journal of cell science (15-07-2011)“…Hyperthermia adversely affects cell structure and function, but also induces adaptive responses that allow cells to tolerate these stressful conditions. For…”
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Isolated short CTG/CAG DNA slip-outs are repaired efficiently by hMutS[Beta], but clustered slip-outs are poorly repaired
Published in Proceedings of the National Academy of Sciences - PNAS (13-07-2010)“…Expansions of CTG/CAG trinucleotide repeats, thought to involve slipped DNAs at the repeats, cause numerous diseases including myotonic dystrophy and…”
Get full text
Journal Article -
10
Isolated short CTG/CAG DNA slip-outs are repaired efficiently by hMutSb, but clustered slip-outs are poorly repaired
Published in Proceedings of the National Academy of Sciences - PNAS (01-07-2010)“…Expansions of CTG/CAG trinucleotide repeats, thought to involve slipped DNAs at the repeats, cause numerous diseases including myotonic dystrophy and…”
Get full text
Journal Article -
11
MSH3 Polymorphisms and Protein Levels Affect CAG Repeat Instability in Huntington's Disease Mice. e1003280
Published in PLoS genetics (01-02-2013)“…Expansions of trinucleotide CAG/CTG repeats in somatic tissues are thought to contribute to ongoing disease progression through an affected individual's life…”
Get full text
Journal Article -
12
Isolated short CTG/CAG DNA slip-outs are repaired efficiently by hMutSbeta, but clustered slip-outs are poorly repaired
Published in Proceedings of the National Academy of Sciences - PNAS (13-07-2010)“…Expansions of CTG/CAG trinucleotide repeats, thought to involve slipped DNAs at the repeats, cause numerous diseases including myotonic dystrophy and…”
Get full text
Journal Article