[HTML][HTML] RNA and disease

TA Cooper, L Wan, G Dreyfuss - Cell, 2009 - cell.com
Cellular functions depend on numerous protein-coding and noncoding RNAs and the RNA-
binding proteins associated with them, which form ribonucleoprotein complexes (RNPs) …

Pre-mRNA splicing and human disease

NA Faustino, TA Cooper - Genes & development, 2003 - genesdev.cshlp.org
The precision and complexity of intron removal during pre-mRNA splicing still amazes even
26 years after the discovery that the coding information of metazoan genes is interrupted by …

[HTML][HTML] Recruitment of human muscleblind proteins to (CUG) n expansions associated with myotonic dystrophy

JW Miller, CR Urbinati, P Teng‐umnuay… - The EMBO …, 2000 - embopress.org
Myotonic dystrophy (DM1) is an autosomal dominant neuromuscular disorder associated
with a (CTG) n expansion in the 3′‐untranslated region of the DM1 protein kinase (DMPK) …

Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy

RS Savkur, AV Philips, TA Cooper - Nature genetics, 2001 - nature.com
Abstract Myotonic dystrophy type 1 (DM1) is caused by a CTG trinucleotide expansion in the
3′ untranslated region of the DM protein kinase gene. People with DM1 have an unusual …

Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy

AV Philips, LT Timchenko, TA Cooper - Science, 1998 - science.org
Myotonic dystrophy (DM) is caused by a CTG expansion in the 3′ untranslated region of
the DM gene. One model of DM pathogenesis suggests that RNAs from the expanded allele …

Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat

A Mankodi, E Logigian, L Callahan, C McClain… - Science, 2000 - science.org
Myotonic dystrophy (DM), the most common form of muscular dystrophy in adult humans,
results from expansion of a CTG repeat in the 3′ untranslated region of the DMPK gene …

Expansion of a CUG trinucleotide repeat in the 3′ untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts

BM Davis, ME McCurrach, KL Taneja… - Proceedings of the …, 1997 - National Acad Sciences
Expansion of a CTG trinucleotide repeat in the 3′ untranslated region (UTR) of DMPK, the
gene encoding myotonic dystrophy protein kinase, induces the dominantly inherited …

Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells

M Fardaei, MT Rogers, HM Thorpe… - Human molecular …, 2002 - academic.oup.com
Myotonic dystrophy is a complex neuromuscular disorder associated with DNA expansion
mutations in two different genes. In DM1 a CTG repeat in the 3′-untranslated region of …

The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing

AN Ladd, N Charlet-B, TA Cooper - Molecular and cellular biology, 2001 - Am Soc Microbiol
Alternative splicing of cardiac troponin T (cTNT) exon 5 undergoes a developmentally
regulated switch such that exon inclusion predominates in embryonic, but not adult, striated …

Endogenous DUX4 expression in FSHD myotubes is sufficient to cause cell death and disrupts RNA splicing and cell migration pathways

AM Rickard, LM Petek, DG Miller - Human molecular genetics, 2015 - academic.oup.com
Facioscapulohumeral muscular dystrophy (FSHD) is caused by chromatin relaxation that
results in aberrant expression of the transcription factor Double Homeobox 4 (DUX4). DUX4 …