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Muscleblind protein, MBNL1/EXP, binds specifically to CHHG repeats.
Myotonic dystrophy (DM) type 1 is caused by an expansion of a CTG repeat in the DMPK gene and type 2 by a CCTG repeat in the ZNF9 gene. Previous reports have suggested that transcripts containingExpand
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The nuclear actin-related protein of Saccharomyces cerevisiae, Act3p/Arp4, interacts with core histones.
Act3p/Arp4, an essential actin-related protein of Saccharomyces cerevisiae located within the nucleus, is, according to genetic data, involved in transcriptional regulation. In addition to the basalExpand
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MBNL and CELF proteins regulate alternative splicing of the skeletal muscle chloride channel CLCN1
The expression and function of the skeletal muscle chloride channel CLCN1/ClC-1 is regulated by alternative splicing. Inclusion of the CLCN1 exon 7A is aberrantly elevated in myotonic dystrophy (DM),Expand
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Intracellular Localization of Homopolymeric Amino Acid-containing Proteins Expressed in Mammalian Cells*
Many human proteins have homopolymeric amino acid (HPAA) tracts, which are involved in protein-protein interactions and also have intrinsic polymerization properties. Polyglutamine or polyalanineExpand
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Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads
Tandemly repeated DNA is highly mutable and causes at least 31 diseases, but it is hard to detect pathogenic repeat expansions genome-wide. Here, we report robust detection of human repeat expansionsExpand
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Manumycin A corrects aberrant splicing of Clcn1 in myotonic dystrophy type 1 (DM1) mice
Myotonic dystrophy type 1 (DM1) is the most common muscular dystrophy in adults and as yet no cure for DM1. Here, we report the potential of manumycin A for a novel DM1 therapeutic reagent. DM1 isExpand
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Multiple actin-related proteins of Saccharomyces cerevisiae are present in the nucleus.
An increasing number of actin-related proteins (Arps), which share the basal structure with skeletal actin but possess distinct functions, have been found in a wide variety of organisms. IndividualExpand
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Nuclear localization of MBNL1: splicing-mediated autoregulation and repression of repeat-derived aberrant proteins.
In some neurological diseases caused by repeat expansions such as myotonic dystrophy, the RNA-binding protein muscleblind-like 1 (MBNL1) accumulates in intranuclear inclusions containing mutantExpand
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Interactions between homopolymeric amino acids (HPAAs)
Many human proteins contain consecutive amino acid repeats, known as homopolymeric amino acid (HPAA) tracts. Some inherited diseases are caused by proteins in which HPAAs are expanded to an excessiveExpand
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BACE1 interacts with nicastrin.
Beta-amyloid peptide (Abeta) is generated through the proteolytic cleavage of beta-amyloid precursor protein (APP) by beta- and gamma-secretases. The beta-secretase, BACE1, initiates Abeta formationExpand
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