Myotonin-Protein Kinase

Serine/threonine protein kinase responsible for various SKELETAL MUSCLE functions; HEART CONDUCTION SYSTEM activity; calcium HOMEOSTASIS; calcium uptake by SARCOPLASMIC RETICULUM and SYNAPTIC PLASTICITY. It is encoded by the DMPK gene and its abnormal EXPANDED TRINUCLEOTIDE REPEAT of CTG in the 3'-UTR is associated with MYOTONIC DYSTROPHY 1.

Also Known As:

Networked: 213 relevant articles (0 outcomes, 5 trials/studies)

Bio-Agent Context: Research Results

Experts

1.	Mahadevan, Mani S: 5 articles (01/2019 - 05/2005)
2.	Thornton, Charles A: 5 articles (10/2016 - 01/2007)
3.	Gourdon, Geneviève: 5 articles (10/2013 - 01/2004)
4.	Puymirat, Jack: 4 articles (12/2021 - 05/2003)
5.	Yadava, Ramesh S: 4 articles (01/2019 - 09/2006)
6.	Furling, Denis: 4 articles (01/2018 - 03/2003)
7.	Wansink, Derick G: 4 articles (03/2013 - 10/2004)
8.	Wieringa, Bé: 4 articles (03/2013 - 10/2004)
9.	Reddy, S: 4 articles (10/2005 - 06/2000)
10.	Jinnai, Kenji: 3 articles (01/2020 - 05/2004)

Related Diseases

1.	Myotonic Dystrophy (Dystrophia Myotonica) 10/01/1998 - "Recent studies have shown that the severity of the several clinical symptoms of myotonic dystrophy (DM) is closely related to the size of a CTG triplet repeat in the gene encoding myotonin protein kinase. " 07/01/1998 - "From our previous studies, myotonic dystrophy protein kinase: gene product of myotonic dystrophy is localized at the terminal cisternae of sarcoplasmic reticulum of human adult muscle. " 04/01/1995 - "Here we use muscle biopsies from classical adult-onset myotonic dystrophy patients to study the accumulation of transcripts from both the normal and expanded DM kinase genes in patient muscle, and compare the results to normal and myopathic controls. " 10/01/2023 - "Congenital myotonic dystrophy (CDM) is an autosomal dominant multisystemic disorder attributed to a large expansion of CTG trinucleotide repeats within the myotonic dystrophy protein kinase (DMPK) gene. " 02/01/2021 - "Myotonic dystrophy is a multisystem disorder caused by a trinucleotide repeat expansion on the myotonic dystrophy protein kinase (DMPK) gene. "
2.	Muscular Diseases (Myopathy) 07/01/1996 - "Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy." 07/01/1996 - "Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice." 01/01/2018 - "In the current proof-of-principle study, we explored the use of CRISPR/Cas9 for gene-editing in myotonic dystrophy type-1 (DM1), an autosomal-dominant muscle disorder, by excising the CTG-repeat expansion in the 3'-untranslated-region (UTR) of the human myotonic dystrophy protein kinase (DMPK) gene in DM1 patient-specific induced pluripotent stem cells (DM1-iPSC), DM1-iPSC-derived myogenic cells and DM1 patient-specific myoblasts. "
3.	Myotonic Disorders (Paramyotonia Congenita) 12/01/1999 - "Myotonic dystrophy is the most common myotonic disorder and genetic studies disclosed the presence of abnormal triplet repeat in the chromosome 19q13.1 and the gene product is known as myotonin protein kinase. "
4.	Muscular Dystrophies (Muscular Dystrophy) 06/01/2002 - "Myotonic muscular dystrophy (DM) is characterized by abnormal skeletal muscle Na channel gating and reduced levels of myotonic dystrophy protein kinase (DMPK). " 01/01/2016 - "Myotonic dystrophy type 1 (DM1), the most common form of muscular dystrophy in adults, is caused by toxic RNAs produced from the mutant DM protein kinase (DMPK) gene. " 04/01/1997 - "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. " 07/28/2000 - "The genetic abnormality in myotonic muscular dystrophy, multiple CTG repeats lie upstream of a gene that encodes a novel protein kinase, myotonic dystrophy protein kinase (DMPK). " 05/01/1995 - "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. "
5.	Inborn Genetic Diseases (Disease, Hereditary) 10/01/2016 - "Myotonic dystrophy type 1 (DM1) is a genetic disorder in which dominant-active DM protein kinase (DMPK) transcripts accumulate in nuclear foci, leading to abnormal regulation of RNA processing. " 09/24/2022 - "Myotonic dystrophy type 1 (DM1) is a genetic disorder caused by a (CTG) expansion in the DM protein kinase (DMPK) gene, representing the most common adult muscular dystrophy, characterized by a multisystem involvement with predominantly skeletal muscle and brain affection. " 01/01/2023 - "Myotonic dystrophy type 1 (DM1) is an autosomal dominant hereditary disease caused by abnormal expansion of unstable CTG repeats in the 3' untranslated region of the myotonic dystrophy protein kinase (DMPK) gene. " 01/01/1995 - "Myotonic dystrophy (DM) is an autosomal dominant genetic disease caused by an unstable CTG repeat sequence in the 3' untranslated region of the myotonin protein kinase gene. " 11/01/2022 - "Myotonic dystrophy type 1 (DM1) is a dominant genetic disease in which the expansion of long CTG trinucleotides in the 3' UTR of the myotonic dystrophy protein kinase (DMPK) gene results in toxic RNA gain-of-function and gene mis-splicing affecting mainly the muscles, the heart, and the brain. "

Related Drugs and Biologics

1.	3' Untranslated Regions (3' UTR)
2.	Messenger RNA (mRNA)
3.	Proteins (Proteins, Gene)
4.	Protein Serine-Threonine Kinases (Protein-Serine-Threonine Kinase)
5.	RNA (Ribonucleic Acid)
6.	Protein Kinases (Protein Kinase)
7.	Thymine
8.	Phosphotransferases (Kinase)
9.	Guanine
10.	Cytosine