DOK7 Gene Therapy Enhances Neuromuscular Junction Innervation and Motor Function in Aged Mice
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چکیده
منابع مشابه
DOK7 gene therapy enhances motor activity and life span in ALS model mice
Amyotrophic lateral sclerosis (ALS) is a progressive, multifactorial motor neurodegenerative disease with severe muscle atrophy. The glutamate release inhibitor riluzole is the only medication approved by the FDA, and prolongs patient life span by a few months, testifying to a strong need for new treatment strategies. In ALS, motor neuron degeneration first becomes evident at the motor nerve te...
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Mutations in DOK7 have recently been shown to underlie a recessive congenital myasthenic syndrome (CMS) associated with small simplified neuromuscular junctions ('synaptopathy') but normal acetylcholine receptor and acetylcholinesterase function. We identified DOK7 mutations in 27 patients from 24 kinships. Mutation 1124_1127dupTGCC was common, present in 20 out of 24 kinships. All patients wer...
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ATP is co-released in significant quantities with acetylcholine from motor neurons at skeletal neuromuscular junctions (NMJ). However, the role of this neurotransmitter in muscle function remains unclear. The P2X2 ion channel receptor subunit is expressed during development of the skeletal NMJ, but not in adult muscle fibers, although it is re-expressed during muscle fiber regeneration. Using m...
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Objectives: Most definitions equate Quality of Life with motor function. The aim of this study is to examine the association between gross motor function and Quality of Life for children with cerebral palsy. Methods: In this analytical cross–sectional study, 60 children with cerebral palsy aged 4-12 were selected through convenience sampling based on inclusion criteria from occupationa...
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ژورنال
عنوان ژورنال: iScience
سال: 2020
ISSN: 2589-0042
DOI: 10.1016/j.isci.2020.101385