Results 21 to 30 of about 843 (162)

Novel isoform of myotonin protein kinase: gene product of myotonic dystrophy is localized in the sarcoplasmic reticulum of skeletal muscle. [PDF]

Am J Pathol, 1997
It is quite important to know the exact localization and function of myotonin protein kinase (MtPK), identified as the gene product of myotonic dystrophy, the most prevalent disease with multisystem disorders among muscular dystrophies. To investigate the localization of MtPK, we raised a polyclonal antibody against a synthetic peptide chosen within ...
Shimokawa M, Ishiura S, Kameda N, Yamamoto M, Sasagawa N, Saitoh N, Sorimachi H, Ueda H, Ohno S, Suzuki K, Kobayashi T.   +10 more
europepmc   +3 more sources

Antenatal Indomethacin Treatment for Congenital Myotonic Dystrophy. [PDF]

Case Rep Obstet Gynecol, 2019
Myotonic dystrophy is an autosomal‐dominant disorder. Its congenital type is the most severe form, with respiratory failure that can be a life‐threatening event after birth. There are no antenatal treatments that can improve neonatal outcomes of myotonic dystrophy.
Yamaguchi K, Tanaka H, Furuhashi FH, Tanaka K, Kondo E, Ikeda T.   +5 more
europepmc   +2 more sources

Effect of artificial (CTG) repeat expansion on the expression of myotonin protein kinase (MtPK) in COS-1 cells

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1996
A major challenge in the study of a new genetic entity called triplet-repeat disease is to identify the role of triplet repeats in the pathogenesis of the disease. We have developed a strategy to demonstrate the effect in the 3'-untranslated end of the (CTG) repeats in myotonic dystrophy gene (MtPK) and found that repeat expansion (CTG46) causes a ...
Koichi Suzuki, Masatake Shimokawa, Hiroyuki Sorimachi, Naoto Saitoh, Kei Maruyama, Noboru Sasagawa, Shoichi Ishiura, Kiichi Arahata   +7 more
openaire   +4 more sources

Normal levels of DM RNA and myotonin protein kinase in skeletal muscle from adult myotonic dystrophy (DM) patients

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1996
A major question about the pathogenesis of myotonic dystrophy (DM) is how the (CTG)n repeat mutation alters expression of the DM gene and how that is related to disease causation. Most previous studies have found a decrease in DM RNA and protein in patient tissue.
S, Bhagavati, S, Bhagwati, A, Ghatpande, B, Leung   +3 more
openaire   +4 more sources

A Novel Gene that is Activated by Myotonin Protein Kinase (MtPK)

Biomedical Research, 1999
Shoichi Ishiura, Koichi Suzuki, Tomoji Watanabe, Hisashi Koike, Naoto Saitoh, Masayuki Ito, Fusako Usuke, Noboru Sasagawal   +7 more
openaire   +4 more sources

Corrigendum to “Normal levels of DM RNA and myotonin protein kinase in skeletal muscle from adult myotonic dystrophy (DM) patients” [Biochim. Biophys. Acta 1317 (1996) 155–157]

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2008
International ...
Bhagavati, Satyakam, Ghatpande, Ashwini, Leung, Betty   +2 more
openaire   +4 more sources

Expansion of CTG repeat in myotonin protein kinase gene on Alu(ins)-Hinf1-1 background in a myotonic dystrophy patient from India [PDF]

Human Mutation, 1999
Priyadarshi Basu, Krishna K. Sinha, Prasanta K. Gangopadhaya, Nitai P. Bhattacharyya, Subhas C. Mukherjee   +4 more
  +6 more sources

MYOTONIN PROTEIN KINASE (MtPK) AFFECTS THE CHLORIDE PERMEABILITY OF C2C12 MYOGENIC CELLS

Biomedical Research, 1998
Fusako Usuki, Koichi Suzuki, Noboru Sasagawa, Hiroyuki Sorimachi, Isamu Yabe, Hisashi Koike, Naoto Saitoh, Shoichi Ishiura   +7 more
openaire   +3 more sources

Immunocytochemical localization of myotonin protein kinase on muscle from patients with congenital myotonic dystrophy.

Histology and histopathology, 1996
Using a polyclonal anti myotonin-protein kinase (M-PK) antibody against synthetic M-PK peptides corresponding to part of the amino acid sequence, and the immunohistochemical analysis of indirect immunoperoxidase, we have investigated localization of M-PK on muscle from patients with congenital myotonic dystrophy.
Tachi, N., Kozuka, N., Ohya, K., Chiba, S., Kikuchi, K.   +4 more
openaire   +3 more sources

Instability of the Expanded (CTG)nRepeats in the Myotonin Protein Kinase Gene in Cultured Lymphoblastoid Cell Lines from Patients with Myotonic Dystrophy

Genomics, 1996
The mutation associated with myotonic dystrophy (DM) is the expansion of an unstable trinucleotide repeat, (CTG)n, in the 3'-untranslated region of the myotonin protein kinase gene. Although expanded repeats show both germline and somatic instability, the mechanisms of the instability are poorly understood.
B J Patel, B J Patel, Charles T. Caskey, S. Vaishnav, A. Voskova, Darren G. Monckton, Tetsuo Ashizawa   +6 more
openaire   +4 more sources