Results 121 to 130 of about 843 (162)

Decreased Myotonin-Protein Kinase in the Skeletal and Cardiac Muscles in Myotonic Dystrophy

Biochemical and Biophysical Research Communications, 1994
To investigate the role of myotonin-protein kinase (MT-PK) in the pathophysiology of myotonic dystrophy (DM), we developed specific antibodies against synthetic MT-PK peptides. The antibody identified a 53kDa protein in skeletal muscle and recognized decreases in the amount of the protein in both adult and congenital DM patients, compared with amounts ...
Akinori Nakamura, Kiichi Arahata, Toshifumi Tsukahara, Shoichi Ishiura, Ritsuko Koga, Y. Kurano, Y. Nakao, Ikuya Nonaka   +7 more
openaire   +4 more sources

Expanded CTG repeats in myotonin protein kinase suppresses myogenic differentiation

NeuroReport, 1997
A full-length mutant human myotonin protein kinase (MtPK) cDNA having a 46 expanded CTG-repeat size or a wild type containing 5 CTG repeats was stably transfected into mouse C2C12 cell line in order to explore the effects of the expansion mutation of trinucleotide repeats in the 3' untranslated region on developing myogenic cells.
Koichi Suzuki, Hiroko Kuzume, Noboru Sasagawa, Toshio Terao, Shoichi Ishiura, Kei Maruyama, Naoto Saitoh, Hiroyuki Sorimachi, Fusako Usuki   +8 more
openaire   +4 more sources

Immunocytochemical localization of a full-length myotonin protein kinase in rat L6 myoblasts

Neuroscience Letters, 1996
Expansion mutation of CTG-repeat motifs within myotonin protein kinase (MtPK) gene is responsible for pathological changes in myotonic dystrophy (DM). To explore its pathological role in skeletal muscle, a full-length human MtPK cDNA was transfected into rat L6 myogenic cell line.
Masatake Shimokawa, Hiroyuki Sorimachi, Noboru Sasagawa, Hisashi Koike, Shoichi Ishiura, Koichi Suzuki, Naoto Saitoh   +6 more
openaire   +4 more sources

Differential Signaling Pathways Following Oxidative Stress in Mutant Myotonin Protein Kinase cDNA-Transfected C2C12 Cell Lines

Biochemical and Biophysical Research Communications, 2000
We investigated the response to oxidative stress in a model system established in C2C12 cells stably transfected with myotonin protein kinase (MtPK) cDNAs having 5, 46, 60, or 160 CTG repeats. The transformants showed CTG repeat number-dependent susceptibility to oxidative stress.
Fusako Usuki, Nobuhiro Takahashi, Noboru Sasagawa, Shoichi Ishiura   +3 more
openaire   +4 more sources

Expression of the myotonin protein kinase gene in preimplantation human embryos

Human Molecular Genetics, 1995
We have examined the expression of the myotonin protein kinase gene (MPK) in individual human preimplantation embryos. An allele-specific, reverse transcriptase polymerase chain reaction assay was developed to the required sensitivity using human buccal cells.
Robert Daniels, Marilyn Monk, Thannasis Kinis, Paul Serhal   +3 more
openaire   +4 more sources

Decreased Expression of Myotonin-Protein Kinase Messenger RNA and Protein in Adult Form of Myotonic Dystrophy

Science, 1993
The myotonic dystrophy mutation has recently been identified; however, the molecular mechanism of the disease is still unknown. The sequence of the myotonin-protein kinase gene was determined, and messenger RNA spliced forms were identified in various tissues. Antisera were developed for analytical studies. Quantitative reverse transcription-polymerase
Ying-Hui Fu, David L. Friedman, Stephen Richards, Joel A. Pearlman, Richard A. Gibbs, Antonio Pizzuti, Tetsuo Ashizawa, M. Benjamin Perryman, Guglielmo Scarlato, Raymond G. Fenwick, C. Thomas Caskey   +10 more
openaire   +4 more sources

The Myotonin-Protein Kinase Phosphorylates Tyrosine Residues in Normal Human Skeletal Muscle

Biochemical and Biophysical Research Communications, 1994
As a first approach to study the cellular events involved in myotonic dystrophy, we have produced a polyclonal antibody against a peptide sequence of the predicted gene product. This antibody specifically recognizes a 54 kDa protein in human skeletal muscle. This protein phosphorylates a co-polymer Glu/Tyr but not Myelin Basic Protein.
Jean-Pierre Bouchard, Jack Puymirat, P. Etonguemayer, R. Faure, M.C. Thibault   +4 more
openaire   +4 more sources

Association of CTG repeats and the 1-kbAlu insertion/deletion polymorphism at the myotonin protein kinase gene in the Japanese population suggests a common Eurasian origin of the myotonic dystrophy mutation

Human Genetics, 1996
We have studied linkage disequilibrium between CTG repeats and an Alu insertion/deletion polymorphism at the myotonin protein kinase gene (DMPK) in 102 Japanese families, of which 93 were affected with myotonic dystrophy (DM). All of the affected chromosomes are in complete linkage disequilibrium with the Alu insertion allele.
Hidehisa Yamagata, Keith J. Johnson, Toshio Ogihara, Ranjan Deka, Tetsuro Miki, Masanori Nakagawa   +5 more
openaire   +4 more sources

Polymorphism of the (CTG)n Repeat of the Myotonin Protein Kinase Gene in Populations of the Sakha Republic (Yakutia) and Central Asia

Molecular Biology, 2005
The allele frequency distribution of the (CTG)n repeat located in the 3′-terminal region of the myotonin protein kinase gene (DMPK) was compared for populations of Yakutia (three ethnogeographic groups of Yakuts, Evenks, Evens, Yukaghirs, and Dolgans) and Central Asia (Kazakhs, Uzbeks, and Uighurs) and other ethnic groups.
S. A. Fedorova, I. A. Nikolaeva, Berezina Gm, S. S. Kulichkin, V. L. Akhmetova, Rita Khusainova, A. Z. Salimova, E. K. Khusnutdinova, A. L. Sukhomyasova, G. S. Svyatova, I. A. Kutuev, F. A. Platonov   +11 more
openaire   +3 more sources

Different Expression of the Myotonin Protein Kinase Gene in Discrete Areas of Human Brain

Biochemical and Biophysical Research Communications, 1995
We have examined the myotonin protein kinase (MT-PK) gene expression in different human brain areas. Four different spliced forms, comprising exons 13 and 14, were identified and characterized. One form (MYOT-A), lacking the entire exon 13, had not been detected in other studies and it is likely to be a brain-specific transcript.
GENNARELLI M., LUCARELLI, Marco, ZELANO G., PIZZUTI, Antonio, NOVELLI G., DALLAPICCOLA B.   +5 more
openaire   +6 more sources