Results 1 to 10 of about 479 (96)

Full-length myotonin protein kinase (72 kDa) displays serine kinase activity. [PDF]

Proc Natl Acad Sci U S A, 1995
We describe the full-length (72 kDa) myotonin protein kinase (Mt-PK) and demonstrate its kinase activity. The 72-kDa protein corresponds to the translation product from the first in-frame AUG codon. This protein was found in the cytoplasmic fraction, whereas the previously reported 55-kDa protein was observed in nuclear extracts.
Timchenko L, Nastainczyk W, Schneider T, Patel B, Hofmann F, Caskey CT.   +5 more
europepmc   +4 more sources

Modulation of skeletal muscle sodium channels by human myotonin protein kinase. [PDF]

J Clin Invest, 1995
In myotonic muscular dystrophy, abnormal muscle Na currents underlie myotonic discharges. Since the myotonic muscular dystrophy gene encodes a product, human myotonin protein kinase, with structural similarity to protein kinases, we tested the idea that human myotonin protein kinase modulates skeletal muscle Na channels.
Mounsey JP, Xu P, John JE, Horne LT, Gilbert J, Roses AD, Moorman JR.   +6 more
europepmc   +4 more sources

Altered phosphorylation and intracellular distribution of a (CUG)n triplet repeat RNA-binding protein in patients with myotonic dystrophy and in myotonin protein kinase knockout mice. [PDF]

Proc Natl Acad Sci U S A, 1997
Myotonic dystrophy (DM) is associated with expansion of CTG repeats in the 3′-untranslated region of the myotonin protein kinase (DMPK) gene. The molecular mechanism whereby expansion of the (CUG) n repeats in the 3′-untranslated region of DMPK gene induces DM is unknown. We previously
Roberts R, Timchenko NA, Miller JW, Reddy S, Caskey CT, Swanson MS, Timchenko LT.   +6 more
europepmc   +4 more sources

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   +2 more sources

Daunorubicin reduces MBNL1 sequestration caused by CUG-repeat expansion and rescues cardiac dysfunctions in a Drosophila model of myotonic dystrophy

Disease Models & Mechanisms, 2018
Myotonic dystrophy (DM) is a dominantly inherited neuromuscular disorder caused by expression of mutant myotonin-protein kinase (DMPK) transcripts containing expanded CUG repeats.
Mouli Chakraborty, Chantal Sellier, Michel Ney, Villa Pascal, Nicolas Charlet-Berguerand, Ruben Artero, Beatriz Llamusi   +6 more
doaj   +1 more source

Distribution and evolution of CTG repeats at the myotonin protein kinase gene in human populations. [PDF]

Genome Research, 1996
We have analyzed the CTG repeat length and the neighboring Alu insertion/deletion (+/-) polymorphism in DNA samples from 16 ethnically and geographically diverse human populations to understand the evolutionary dynamics of the myotonic dystrophy-associated CTG repeat.
Deka, Ranjan, Majumder, Partha P., Shriver, Mark D., Stivers, David N., Zhong, Yixi, Yu, Ling Mei, Barrantes Mesén, Ramiro, Yin, Shih-Jiun, Miki, Tetsuro, Hundrieser, Joachim, Bunker, Clareann H., McGarvey, Stephen T., Sakallah, Sameer, Ferrell, Robert E., Chakraborty, Ranajit   +14 more
openaire   +4 more sources

Antenatal Indomethacin Treatment for Congenital Myotonic Dystrophy

Case Reports in Obstetrics and Gynecology, Volume 2019, Issue 1, 2019., 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.
Kyohei Yamaguchi, Hiroaki Tanaka, Fumi H. Furuhashi, Kayo Tanaka, Eiji Kondo, Tomoaki Ikeda, Kyousuke Takeuchi   +6 more
wiley   +1 more source

Surgical Orthodontic Treatment of a Patient Affected by Type 1 Myotonic Dystrophy (Steinert Syndrome)

Case Reports in Dentistry, Volume 2017, Issue 1, 2017., 2017
Myotonic dystrophy, or Steinert’s disease, is the most common form of muscular dystrophy that occurs in adults. This multisystemic form involves the skeletal muscles but affects also the eye, the endocrine system, the central nervous system, and the cardiac system.
Laura Cacucci, Beatrice Ricci, Maria Moretti, Giulio Gasparini, Sandro Pelo, Cristina Grippaudo, Hüsamettin Oktay   +6 more
wiley   +1 more source

A novel Sac I RFLP in the 3′ untranslated region of the myotonin protein kinase gene [PDF]

Journal of Human Genetics, 1999
We found a novel Sac I polymorphism downstream of CTG repeats in the 3' untranslated region of the myotonin protein kinase (MT-PK) gene. A C to G transition at nucleotide 13,590 in the gene was revealed by Southern blotting and confirmed by sequencing analyses.
A, Nakamura, N, Minami, T, Kamitani, K, Kamakura, K, Arahata, S, Takeda   +5 more
openaire   +2 more sources

Molecular anatomy of CTG expansion in myotonin protein kinase gene among myotonic dystrophy patients from eastern India [PDF]

Human Mutation, 2000
We have studied the CTG repeat sizes in the DMPK gene and six biallelic markers which are in complete linkage disequlibrium with Caucasian DM patients, to identify any common founder haplotype in 30 clinically diagnosed unrelated DM patients from eastern India.
P, Basu, P K, Gangopadhaya, S C, Mukherjee, S K, Das, K K, Sinha, N P, Bhattacharyya   +5 more
openaire   +2 more sources