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 +5 more
europepmc +6 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 +6 more
europepmc +6 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 +6 more
europepmc +6 more sources
Tissue and tumor mosaicism of the myotonin protein kinase gene trinucleotide repeat in a patient with multiple basal cell carcinomas associated with myotonic dystrophy [PDF]
Journal of the American Academy of Dermatology, 2004 We describe the third case (to our knowledge) of multiple basal cell carcinoma associated with myotonic dystrophy and carry out a genetic study of the tumor comparing it with healthy skin. We consider that our results show that this association might be not a purely random phenomenon and that the particular genetic characteristics of this disorder ...
Regina Ramón +7 more
core +6 more sources
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 +14 more
openaire +7 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.
Prasanta K. Gangopadhaya +5 more
openaire +4 more sources
Surgical Orthodontic Treatment of a Patient Affected by Type 1 Myotonic Dystrophy (Steinert Syndrome) [PDF]
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 +6 more
wiley +5 more sources
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.
Narihiro Minami +5 more
openaire +4 more sources
The epithelial transcriptome and mucosal microbiota are altered for goats fed with a low-protein diet. [PDF]
Front Microbiol, 2023 IntroductionFeeding low protein (LP) diet to animals impose severe challenge to animals' immune homeostasis. However, limited knowledge about the underlying adaption mechanism of host and ruminal microbiota responding to LP diet were well understood ...
Wu J +5 more
europepmc +3 more sources
Expression of a novel human myotonin protein kinase (MtPK) cDNA clone which encodes a protein with a thymopoietin‐like domain in COS cells [PDF]
FEBS Letters, 1994 A full‐length cDNA of human myotonin protein kinase (MtPK) was cloned and expressed in COS‐1 cells. MtPK is recovered from the cytosolic fraction of the COS extract as a 70 kDa protein, which coincides with the size deduced from the predicted amino acid sequence.
Hiroyuki Sorimachi +5 more
openaire +5 more sources