Search Results - "Olafson, Hailey"
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Precise small-molecule cleavage of an r(CUG) repeat expansion in a myotonic dystrophy mouse model
Published in Proceedings of the National Academy of Sciences - PNAS (16-04-2019)“…Myotonic dystrophy type 1 (DM1) is an incurable neuromuscular disorder caused by an expanded CTG repeat that is transcribed into r(CUG)exp. The RNA repeat…”
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Transcriptome alterations in myotonic dystrophy skeletal muscle and heart
Published in Human molecular genetics (15-04-2019)“…Abstract Myotonic dystrophy (dystrophia myotonica, DM) is a multi-systemic disease caused by expanded CTG or CCTG microsatellite repeats. Characterized by…”
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Repeat length increases disease penetrance and severity in C9orf72 ALS/FTD BAC transgenic mice
Published in Human molecular genetics (25-02-2021)“…C9orf72 ALS/FTD patients show remarkable clinical heterogeneity, but the complex biology of the repeat expansion mutation has limited our understanding of the…”
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High-content image-based analysis and proteomic profiling identifies Tau phosphorylation inhibitors in a human iPSC-derived glutamatergic neuronal model of tauopathy
Published in Scientific reports (23-08-2021)“…Mutations in MAPT (microtubule-associated protein tau) cause frontotemporal dementia (FTD). MAPT mutations are associated with abnormal tau phosphorylation…”
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Mice lacking MBNL1 and MBNL2 exhibit sudden cardiac death and molecular signatures recapitulating myotonic dystrophy
Published in Human molecular genetics (10-09-2022)“…Abstract Myotonic dystrophy (DM) is caused by expansions of C(C)TG repeats in the non-coding regions of the DMPK and CNBP genes, and DM patients often suffer…”
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The skeletal muscle circadian clock regulates titin splicing through RBM20
Published in eLife (01-09-2022)“…Circadian rhythms are maintained by a cell-autonomous, transcriptional-translational feedback loop known as the molecular clock. While previous research…”
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Transcriptome-Wide Studies of RNA-Targeted Small Molecules Provide a Simple and Selective r(CUG)exp Degrader in Myotonic Dystrophy
Published in ACS central science (26-07-2023)“…Myotonic dystrophy type 1 (DM1) is caused by a highly structured RNA repeat expansion, r(CUG)exp, harbored in the 3′ untranslated region (3′ UTR) of…”
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Ribonuclease recruitment using a small molecule reduced c9ALS/FTD r(G 4 C 2 ) repeat expansion in vitro and in vivo ALS models
Published in Science translational medicine (27-10-2021)“…The most common cause of amyotrophic lateral sclerosis and frontotemporal dementia (c9ALS/FTD) is an expanded G C RNA repeat [r(G C ) ] in chromosome 9 open…”
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