The biological functions of myotonic dystrophy protein kinase (DMPK), a serine/threonine kinase whose gene mutations cause myotonic dystrophy type 1 (DM1), remain poorly understood. Several DMPK isoforms exist, and the long ones (DMPK-A/B/C/D) are associated with the mitochondria, where they ...
Myotonic dystrophy (DM) is caused by the expansion of a trinucleotide repeat, CTG, in the 3鈥 untranslated region of a protein kinase gene, DMPK. We set ou... Marion,G.,Hamshere,... - 《Proceedings of the National Academy of Sciences of the United States of America》 被引量: 235发表...
Myotonic dystrophy type 1 (DM1) is the most common form of muscular dystrophy in adults and affects mainly the skeletal muscle, heart, and brain. DM1 is caused by a CTG repeat expansion in the 3'UTR region of the DMPK gene that sequesters muscleblind-like proteins, blocking their splicing ...
Myotonic dystrophy type 1 (DM1) is an autosomal dominant inherited disorder caused by expansion of a germline and somatically unstable CTG repeat in the DMPK gene. Previously, CTG repeat length at birth has been correlated to patient age... O Gayle,L Cécilia,M Jean,... - 《Human Molecular...
英文名称:Recombinant Dystrophia Myotonica Protein Kinase (DMPK)DM; DM1; DM1PK; DMK; MDPK; MT-PK; Myotonic Dystrophy Protein Kinase; Myotonin-Protein Kinase; Dystrophia Myotonica 1; Thymopoietin Homolog 重组蛋白(recombinant protein)是指应用重组 DNA 或重组 RNA 技术而获得的蛋白质。重组蛋白工程...
Myotonic dystrophy type 1 (DM1) is caused by a highly unstable expansion of CTG repeats in the DMPK gene. Its huge phenotypic variability cannot be explained solely by the repeat number. Recently, variant repeats within the DMPK expansions have emerged as potential disease modifiers. The frequency...
The mechanism by which (CTG)n expansion in the 3′ UTR of the DMPK gene causes myotonic dystrophy (DM) is unknown. We identified four RNA splicing factors—hnRNP C, U2AF (U2 auxiliary factor), PTB (polypyrimidine tract binding protein), and PSF (PTB associated splicing factor)—that bind...
DMPK is implicated in myotonic muscular dystrophy (DM), an autosomal dominant-inherited disorder that predominately affects Anti-DMPK抗体skeletal and cardiac muscle and causes defects in cardiac conduction (2,3). DM arises through expansion of CTG repeats in the 3’-UTR of the DMPK gene (4)....
The CTG repeat at the 3′ untranslated region of the dystrophia myotonica protein kinase (DMPK) gene shows marked intergenerational and somatic instability in patients with myotonic dystrophy (DM1), when the repeat is expanded to more than ∼55 repeats. Intensive research has yielded some ...
Myotonic dystrophy 1 (DM1) is known to diminish reproductive fitness in its severe form. Since no de novo mutations are known for this disease, it has the tendency to become extinct from a population. To explain the preservation of DM1 in a population, a hypothesis that a pool of subjects...