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Diseases of the neuromuscular junction
The neuromuscular junction is a prototype synapse and it is also the site of well-characterised autoimmune and hereditary disorders. In the presynaptic terminal, voltage-gated potassium channels and voltage-gated calcium channels are subtly altered in genetic disorders and mutations in the enzyme that synthesises acetylcholine have been demonstrated in
McConville, J, Vincent, A
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Altered Function of the DnaJ Family Cochaperone DNJ-17 Modulates Locomotor Circuit Activity in a Caenorhabditis elegans Seizure Model. [PDF]
The highly conserved cochaperone DnaJ/Hsp40 family proteins are known to interact with molecular chaperone Hsp70, and can regulate many cellular processes including protein folding, translocation, and degradation.
Jin, Yishi, Takayanagi-Kiya, Seika
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Background Respiratory complications are the chief causes of morbidity plus mortality in patients with neuromuscular diseases (NMD). The diaphragm acts as the main inspiratory muscle during regular breathing, and its weakness predisposes to respiratory ...
Ahmed M Abumossalam +4 more
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The selectivity and specificity of autophagy in drosophila [PDF]
Autophagy is a process of cellular self-degradation and is a major pathway for elimination of cytoplasmic material by the lysosomes. Autophagy is responsible for the degradation of damaged organelles and protein aggregates and therefore plays a ...
Chou +27 more
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MG53 Preserves Neuromuscular Junction Integrity and Alleviates ALS Disease Progression [PDF]
Respiratory failure from progressive respiratory muscle weakness is the most common cause of death in amyotrophic lateral sclerosis (ALS). Defects in neuromuscular junctions (NMJs) and progressive NMJ loss occur at early stages, thus stabilizing and preserving NMJs represents a potential therapeutic strategy to slow ALS disease progression.
Jianxun Yi +11 more
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Use of sugammadex in patients with neuromuscular disorders: a systematic review of case reports
Background Sugammadex is a modified gamma-cyclodextrin that acts by selectively encapsulating free amino-steroidal neuromuscular relaxants. Several case reports have been published on the use of sugammadex in patients with neuromuscular disorders that ...
Usha Gurunathan +2 more
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Episodic neurologic disorders: syndromes, genes, and mechanisms. [PDF]
Many neurologic diseases cause discrete episodic impairment in contrast with progressive deterioration. The symptoms of these episodic disorders exhibit striking variety.
Fu, Ying-Hui +2 more
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Neuromuscular junction in health and disease [PDF]
A number of illnesses and other factors can affect the function of the neuromuscular junction (NMJ). These may have an affect at pre- or post-junctional sites. This review outlines the anatomy and the physiology of the NMJ. It also describes the mechanisms and physiological basis of many of the disorders of the NMJ.
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Transverse myelitis in a myasthenia gravis patient. A case presentation [PDF]
Myasthenia gravis (MG) is an autoimmune disease caused by the presence of immunoglobulin G (IgG)1 and IgG3 complement activating antibodies against the nicotinic acetylcholine receptor, which affects the neuromuscular junction leading to fluctuating ...
Ruxanda Dana Chirileanu +4 more
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Background: Neuromuscular disorders (NMDs) are a heterogeneous group of genetic diseases, caused by mutations in genes involved in spinal cord, peripheral nerve, neuromuscular junction, and muscle functions.
Maria Sofia Falzarano +20 more
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