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Muscleblind protein, MBNL1/EXP, binds specifically to CHHG repeats.
- Y. Kino, Daisuke Mori, Y. Oma, Y. Takeshita, N. Sasagawa, S. Ishiura
- BiologyHuman Molecular Genetics
- 1 March 2004
Deletion analysis indicates a difference in RNA-binding abilities among splice variants of MBNL1, and it was found thatMBNL1 can bind to repetitive motifs in ZNF9, which contain a minimal length of CCUG repeats with non-CCUG insertions.
Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads
Robust detection of human repeat expansions from careful alignments of long but error-prone reads to a reference genome is reported, which may help to elucidate the many genetic diseases whose causes remain unknown.
Intracellular Localization of Homopolymeric Amino Acid-containing Proteins Expressed in Mammalian Cells*
Results indicate that hydrophobicity itself may trigger the oligomerization and aggregation of proteins when overexpressed in cells and provide novel insights into the nature of the HPAAs that are often seen in human and other organisms.
MBNL and CELF proteins regulate alternative splicing of the skeletal muscle chloride channel CLCN1
A mechanistic model for the regulation of Clcn1 splicing is provided, novel regulatory properties of MBNL and CELF proteins are revealed, and the role of an exonic splicing enhancer essential for the inclusion of exon 7A is identified.
Manumycin A corrects aberrant splicing of Clcn1 in myotonic dystrophy type 1 (DM1) mice
Manumycin A corrects aberrant splicing of Clcn1 in cell and mouse models of DM1 and is found to have potential for a novel DM1 therapeutic reagent.
Nuclear localization of MBNL1: splicing-mediated autoregulation and repression of repeat-derived aberrant proteins.
The results suggest that nuclear retention of expanded RNA reflects a novel role of MBNL proteins in repressing aberrant protein expression and may provide pathological and therapeutic implications for a wide range of repeat expansion diseases associated with nuclear RNA retention and/or RAN translation.
Interactions between homopolymeric amino acids (HPAAs)
- Y. Oma, Y. Kino, K. Toriumi, N. Sasagawa, S. Ishiura
- BiologyProtein science : a publication of the Protein…
- 1 October 2007
The results suggest that long tracts of polyalanine acquire SDS‐sensitive self‐association properties, which may be a prerequisite event for their abnormal folding, as well as suggesting that hydrophobicity plays an important role in aggregation.
BACE1 interacts with nicastrin.
Comparative analysis of the cytotoxicity of homopolymeric amino acids.
Overexpression of human myotonic dystrophy protein kinase in Schizosaccharomyces pombe induces an abnormal polarized and swollen cell morphology.
It is concluded that the N-terminus of DMPK plays an important role in D MPK kinase activity, and that the C-termini determines the intracellular localization of the protein.