Myotonic Dystrophy Type 1 or Steinert’s Disease

Romeo, Vincenzo

doi:10.1007/978-1-4614-0653-2_18

Cited by 58 publications

(53 citation statements)

References 21 publications

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“…Splicing is regulated by CLK1 through phosphorylation of SR proteins and it is influenced by environmental stresses (Biamonti and Caceres, 2009). Aberrant splicing is implicated in the development of many pathologies (Faustino and Cooper, 2003), including cancer (Kaida et al, 2012) and type 1 myotonic dystrophy (Romeo, 2012) and neurodegenerative diseases (Mills and Janitz, 2012). New drugs targeting splicing are currently under development (Bonnal et al, 2012) and could be of great benefit to fight these diseases.…”

Section: Discussionmentioning

confidence: 99%

cdc-Like/Dual-Specificity Tyrosine Phosphorylation–Regulated Kinases Inhibitor Leucettine L41 Induces mTOR-Dependent Autophagy: Implication for Alzheimer’s Disease

et al. 2013

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Leucettines, a family of pharmacological inhibitors of dualspecificity tyrosine phosphorylation regulated kinases and cdclike kinases (CLKs), are currently under investigation for their potential therapeutic application to Down syndrome and Alzheimer's disease. We here report that leucettine L41 triggers bona fide autophagy in osteosarcoma U-2 OS cells and immortalized mouse hippocampal HT22 cells, characterized by microtubuleassociated protein light chain 3 membrane translocation and foci formation. Leucettine L41-triggered autophagy requires the Unc-51-like kinase and is sensitive to the phosphatidylinositol 3-kinase (PI3K) inhibitors wortmannin and 3-methyladenine, suggesting that it acts through the mammalian target of rapamycin (mTOR)/PI3K-dependent pathway. Leucettine L41 does not act by modifying the autophagic flux of vesicles. Leucettine L41-induced autophagy correlates best with inhibition of CLKs. Leucettine L41 modestly inhibited phosphatidylinositol-3-phosphate 5-kinase, FYVE domain-containing activity as tested both in vitro and in vivo, which may also contribute to autophagy induction. Altogether these results demonstrate that leucettines can activate the autophagic mTOR/PI3K pathway, a characteristic that may turn advantageous in the context of Alzheimer's disease treatment.

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Section: Discussionmentioning

confidence: 99%

cdc-Like/Dual-Specificity Tyrosine Phosphorylation–Regulated Kinases Inhibitor Leucettine L41 Induces mTOR-Dependent Autophagy: Implication for Alzheimer’s Disease

et al. 2013

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“…As mentioned above, SLITRK2 and -4 have been found to be downregulated in patients with myotonic dystrophy 1 (Marteyn et al 2011 ), a chronic multisystem disease causing, e.g., muscle dystrophy (Romeo 2012 ). The reduced expression of SLITRK2 and -4 is accompanied by increased neuritogenesis of motor neurons in vitro, leading to a fi ve-to tenfold decrease in the formation of neuromuscular contacts in cocultures of neurons and primary myotubes.…”

Section: Diseasesmentioning

confidence: 95%

Neural Cell Adhesion Molecules Belonging to the Family of Leucine-Rich Repeat Proteins

Winther

Walmod

2013

Advances in Neurobiology

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Leucine-rich repeats (LRRs) are motifs that form protein-ligand interaction domains. There are approximately 140 human genes encoding proteins with extracellular LRRs. These encode cell adhesion molecules (CAMs), proteoglycans, G-protein-coupled receptors, and other types of receptors. Here we give a brief description of 36 proteins with extracellular LRRs that all can be characterized as CAMs or putative CAMs expressed in the nervous system. The proteins are involved in multiple biological processes in the nervous system including the proliferation and survival of cells, neuritogenesis, axon guidance, fasciculation, myelination, and the formation and maintenance of synapses. Moreover, the proteins are functionally implicated in multiple diseases including cancer, hearing impairment, glaucoma, Alzheimer's disease, multiple sclerosis, Parkinson's disease, autism spectrum disorders, schizophrenia, and obsessive-compulsive disorders. Thus, LRR-containing CAMs constitute a large group of proteins of pivotal importance for the development, maintenance, and regeneration of the nervous system.

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“…As of now, only symptomatic treatment is indicated for these patients, but there is growing research investigation targeting treatment on a molecular level [10].…”

Section: Discussionmentioning

confidence: 99%

Progression to Complete Heart Block in a Patient With Myotonic Dystrophy

2018

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Myotonic dystrophy type 1 is the most common inherited neuromuscular disorder and is associated with a high incidence of sudden cardiac death. Early recognition and prophylactic primary prevention for cardiac conduction defects has been shown to increase survival of these patients. Increasing awareness among physicians could result in survival benefit close to a decade for this population of patients.

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Myotonic Dystrophy Type 1 or Steinert’s Disease

Cited by 58 publications

References 21 publications

cdc-Like/Dual-Specificity Tyrosine Phosphorylation–Regulated Kinases Inhibitor Leucettine L41 Induces mTOR-Dependent Autophagy: Implication for Alzheimer’s Disease

cdc-Like/Dual-Specificity Tyrosine Phosphorylation–Regulated Kinases Inhibitor Leucettine L41 Induces mTOR-Dependent Autophagy: Implication for Alzheimer’s Disease

Neural Cell Adhesion Molecules Belonging to the Family of Leucine-Rich Repeat Proteins

Progression to Complete Heart Block in a Patient With Myotonic Dystrophy

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