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- Publications
- Influence
Muscleblind protein, MBNL1/EXP, binds specifically to CHHG repeats.
- Y. Kino, D. Mori, Y. Oma, Y. Takeshita, N. Sasagawa, S. Ishiura
- Biology, Medicine
- Human molecular genetics
- 1 March 2004
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 containing… Expand
The nuclear actin-related protein of Saccharomyces cerevisiae, Act3p/Arp4, interacts with core histones.
- M. Harata, Y. Oma, S. Mizuno, Y. Jiang, D. Stillman, U. Wintersberger
- Biology, Medicine
- Molecular biology of the cell
- 1 August 1999
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 basal… Expand
MBNL and CELF proteins regulate alternative splicing of the skeletal muscle chloride channel CLCN1
- Y. Kino, Chika Washizu, +5 authors S. Ishiura
- Medicine, Biology
- Nucleic acids research
- 31 August 2009
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
Intracellular Localization of Homopolymeric Amino Acid-containing Proteins Expressed in Mammalian Cells*
- Y. Oma, Y. Kino, N. Sasagawa, S. Ishiura
- Biology, Medicine
- Journal of Biological Chemistry
- 14 May 2004
Many human proteins have homopolymeric amino acid (HPAA) tracts, which are involved in protein-protein interactions and also have intrinsic polymerization properties. Polyglutamine or polyalanine… Expand
Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads
- Satomi Mitsuhashi, M. Frith, +7 authors N. Matsumoto
- Biology, Medicine
- Genome biology
- 19 March 2019
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 expansions… Expand
Manumycin A corrects aberrant splicing of Clcn1 in myotonic dystrophy type 1 (DM1) mice
- Kosuke Oana, Y. Oma, +4 authors S. Ishiura
- Biology, Medicine
- Scientific reports
- 5 July 2013
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 is… Expand
Multiple actin-related proteins of Saccharomyces cerevisiae are present in the nucleus.
- M. Harata, Y. Oma, T. Tabuchi, Y. Zhang, D. Stillman, S. Mizuno
- Chemistry, Medicine
- Journal of biochemistry
- 1 October 2000
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. Individual… Expand
Nuclear localization of MBNL1: splicing-mediated autoregulation and repression of repeat-derived aberrant proteins.
- Y. Kino, Chika Washizu, +4 authors N. Nukina
- Biology, Medicine
- Human molecular genetics
- 1 February 2015
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 mutant… Expand
Interactions between homopolymeric amino acids (HPAAs)
- Y. Oma, Y. Kino, K. Toriumi, N. Sasagawa, S. Ishiura
- Biology, Medicine
- Protein science : a publication of the Protein…
- 1 October 2007
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 excessive… Expand
BACE1 interacts with nicastrin.
- C. Hattori, M. Asai, +5 authors S. Ishiura
- Chemistry, Medicine
- Biochemical and biophysical research…
- 17 May 2002
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 formation… Expand