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What Is in the Neuromuscular Junction Literature?
J Clin Neuromuscul Dis
December 2024
Departments of Neurology and Pathology (Neuropathology), University of Pittsburgh School of Medicine, Pittsburgh, PA.
This update starts with an interesting series of children and adults with congenital myasthenic syndrome with a DOK7 variant. The next section is on autoimmune myasthenia gravis (MG) epidemiology, cost of care, and hospitalizations. A number of studies on the newer treatments are discussed including a phase 2 trial of nipocalimab and recommendations for using some of these drugs.
View Article and Find Full Text PDFARGX-119 is an agonist antibody for human MuSK that reverses disease relapse in a mouse model of congenital myasthenic syndrome.
Sci Transl Med
September 2024
Helen L. and Martin S. Kimmel Center for Biology and Medicine at Skirball Institute of Biomolecular Medicine, NYU School of Medicine, New York, NY 10016, USA.
Article Synopsis
- Muscle-specific kinase (MuSK) is crucial for creating and maintaining neuromuscular synapses, and its activation can help treat diseases affecting these connections, such as congenital myasthenia (CM).
- ARGX-119 is a novel humanized monoclonal antibody designed to specifically activate MuSK, improving neuromuscular junction function without disrupting the natural ligand, neural Agrin.
- In studies, ARGX-119 successfully improved neuromuscular function in mouse models of CM, showing promise for treating related neuromuscular disorders in humans, justifying its further clinical development.
A class of chemical compounds enhances clustering of muscle nicotinic acetylcholine receptor in cultured myogenic cells.
Biochem Biophys Res Commun
October 2024
Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, 65 Tsurumai, Showa-ku, Nagoya, 466-8550, Japan; Graduate School of Nutritoinal Sciencess, Nagoya University of Arts and Sciences, 57 Takenoyama, Iwasaki, Nisshin, 470-0196, Japan. Electronic address:
Article Synopsis
- - Neuromuscular signal transmission is disrupted in diseases like myasthenia gravis and congenital myasthenic syndromes, prompting research using an ATF2-luciferase system to find compounds that enhance AChR clustering.
- - Four chemical compounds with similar structures significantly boosted luciferase activities, outperforming disulfiram—a known drug—while enhancing AChR clusters in muscle cells without causing toxicity up to 1 μM concentrations.
- - Despite increased phosphorylation of MuSK by some compounds, they likely don't bind directly to MuSK or its associated proteins, indicating further exploration is needed to identify their exact targets for developing new treatments for neuromuscular junction disorders.
Congenital Myasthenic Syndromes in Belgium: Genetic and Clinical Characterization of Pediatric and Adult Patients.
Pediatr Neurol
September 2024
Child Neurology Unit, Department of Pediatrics, Vrije Universiteit Brussel, Universitair Ziekenhuis Brussel, Brussels, Belgium.
Background: Congenital myasthenic syndromes (CMS) are a group of genetic disorders characterized by impaired neuromuscular transmission. CMS typically present at a young age with fatigable muscle weakness, often with an abnormal response after repetitive nerve stimulation (RNS). Pharmacologic treatment can improve symptoms, depending on the underlying defect.
View Article and Find Full Text PDFDOK7 congenital myasthenic syndrome: case series and review of literature.
BMC Neurol
June 2024
Neuromuscular Research Center, Shariati Hospital, Tehran University of Medical Sciences, Shariati Hospital, North Karegar St, Tehran, 14117-13135, Iran.
Background: Congenital myasthenic syndromes (CMS) are among the most challenging differential diagnoses in the neuromuscular domain, consisting of diverse genotypes and phenotypes. A mutation in the Docking Protein 7 (Dok-7) is a common cause of CMS. DOK7 CMS requires different treatment than other CMS types.
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