Myotonic dystrophy

CA Thornton - Neurologic clinics, 2014 - neurologic.theclinics.com
A population-based screen to determine the genetic frequency of myotonic dystrophy (DM)
is technically feasible but has not yet been performed on a large scale. The most ambitious …

[HTML][HTML] Myotonic dystrophies: an update on clinical aspects, genetic, pathology, and molecular pathomechanisms

G Meola, R Cardani - Biochimica et Biophysica Acta (BBA)-Molecular Basis …, 2015 - Elsevier
Myotonic dystrophy (DM) is the most common adult muscular dystrophy, characterized by
autosomal dominant progressive myopathy, myotonia and multiorgan involvement. To date …

Targeting nuclear RNA for in vivo correction of myotonic dystrophy

TM Wheeler, AJ Leger, SK Pandey, AR MacLeod… - Nature, 2012 - nature.com
Antisense oligonucleotides (ASOs) hold promise for gene-specific knockdown in diseases
that involve RNA or protein gain-of-function effects. In the hereditary degenerative disease …

Trinucleotide repeat disorders

HT Orr, HY Zoghbi - Annu. Rev. Neurosci., 2007 - annualreviews.org
The discovery that expansion of unstable repeats can cause a variety of neurological
disorders has changed the landscape of disease-oriented research for several forms of …

Microsatellites within genes: structure, function, and evolution

YC Li, AB Korol, T Fahima, E Nevo - Molecular biology and …, 2004 - academic.oup.com
Recently, increasingly more microsatellites, or simple sequence repeats (SSRs) have been
found and characterized within protein-coding genes and their untranslated regions (UTRs) …

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 …

[图书][B] Myotonic dystrophy

P Harper - 2009 - books.google.com
Myotonic dystrophy is part of the group of muscular dystrophies. It is the commonest
inherited muscular dystrophy and has a profound effect on individuals who are diagnosed …

Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy

X Lin, JW Miller, A Mankodi, RN Kanadia… - Human molecular …, 2006 - academic.oup.com
In myotonic dystrophy (DM), expression of RNA containing expanded CUG or CCUG
repeats leads to misregulated alternative splicing of pre-mRNA. The repeat-bearing …

Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons

H Jiang, A Mankodi, MS Swanson… - Human molecular …, 2004 - academic.oup.com
Abstract Myotonic dystrophy type 1 (DM1) is caused by expansion of a CTG repeat in the
DMPK gene. In skeletal muscles, DM1 may involve a novel, RNA-dominant disease …

Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy

C Fugier, AF Klein, C Hammer, S Vassilopoulos… - Nature medicine, 2011 - nature.com
Myotonic dystrophy is the most common muscular dystrophy in adults and the first
recognized example of an RNA-mediated disease. Congenital myotonic dystrophy (CDM1) …