Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme - Wikidata - awgldk - TriplyDB

Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme

Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme

http://www.wikidata.org/entity/Q24320183

about

The synaptic acetylcholinesterase tetramer assembles around a polyproline II helix Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing?Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome MuSK is required for anchoring acetylcholinesterase at the neuromuscular junction Acetylcholinesterase: From 3D structure to function Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment Recent advances in Cys-loop receptor structure and function Protein-anchoring strategy for delivering acetylcholinesterase to the neuromuscular junction.Effect of human acetylcholinesterase subunit assembly on its circulatory residence High throughput genetic analysis of congenital myasthenic syndromes using resequencing microarrays COOH-terminal collagen Q (COLQ) mutants causing human deficiency of endplate acetylcholinesterase impair the interaction of ColQ with proteins of the basal lamina.Acetylcholine receptors and myasthenia.Why so many forms of acetylcholinesterase?A COLQ missense mutation in Labrador Retrievers having congenital myasthenic syndrome.Pathophysiology of weakness in a patient with congenital end-plate acetylcholinesterase deficiency.Assembly and regulation of acetylcholinesterase at the vertebrate neuromuscular junction Congenital myasthenic syndromes in 2012.The agrin/muscle-specific kinase pathway: new targets for autoimmune and genetic disorders at the neuromuscular junction.What have we learned from the congenital myasthenic syndromes Disruption of basal lamina components in neuromotor synapses of children with spastic quadriplegic cerebral palsy Specific binding of collagen Q to the neuromuscular junction is exploited to cure congenital myasthenia and to explore bases of myasthenia gravis.Anti-MuSK autoantibodies block binding of collagen Q to MuSK.Current status of the congenital myasthenic syndromes.A COLQ Missense Mutation in Sphynx and Devon Rex Cats with Congenital Myasthenic Syndrome Acetylcholinesterase mobility and stability at the neuromuscular junction of living mice SRSF1 and hnRNP H antagonistically regulate splicing of COLQ exon 16 in a congenital myasthenic syndrome Rescue and Stabilization of Acetylcholinesterase in Skeletal Muscle by N-terminal Peptides Derived from the Noncatalytic Subunits Collagen Q and anti-MuSK autoantibody competitively suppress agrin/LRP4/MuSK signaling.Myasthenic syndrome AChRα C-loop mutant disrupts initiation of channel gating Mutations causing muscle weakness.Acetylcholinesterase deficiency contributes to neuromuscular junction dysfunction in type 1 diabetic neuropathy.Genetic analysis of collagen Q: roles in acetylcholinesterase and butyrylcholinesterase assembly and in synaptic structure and function Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain.Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating.Distinct localization of collagen Q and PRiMA forms of acetylcholinesterase at the neuromuscular junction.The therapy of congenital myasthenic syndromes.Muscle and neuronal nicotinic acetylcholine receptors. Structure, function and pathogenicity.Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome.

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P2860

Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme

http://www.wikidata.org/entity/Q24320183

description

1998 nî lūn-bûn

@nan

1998 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

1998 թվականի օգոստոսին հրատարակված գիտական հոդված

@hy

1998年の論文

@ja

1998年論文

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1998年論文

@zh-hant

1998年論文

@zh-hk

1998年論文

@zh-mo

1998年論文

@zh-tw

1998年论文

@wuu

name

Human endplate acetylcholinest ...... ColQ) of the asymmetric enzyme

@ast

Human endplate acetylcholinest ...... ColQ) of the asymmetric enzyme

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Human endplate acetylcholinest ...... ColQ) of the asymmetric enzyme

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Human endplate acetylcholinest ...... ColQ) of the asymmetric enzyme

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type

label

Human endplate acetylcholinest ...... ColQ) of the asymmetric enzyme

@ast

Human endplate acetylcholinest ...... ColQ) of the asymmetric enzyme

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Human endplate acetylcholinest ...... ColQ) of the asymmetric enzyme

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Human endplate acetylcholinest ...... ColQ) of the asymmetric enzyme

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prefLabel

Human endplate acetylcholinest ...... ColQ) of the asymmetric enzyme

@ast

Human endplate acetylcholinest ...... ColQ) of the asymmetric enzyme

@en

Human endplate acetylcholinest ...... ColQ) of the asymmetric enzyme

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Human endplate acetylcholinest ...... ColQ) of the asymmetric enzyme

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P3181

P356

PNAS.95.16.9654

P1433

Proceedings of the National Academy of Sciences of the United States of America

P1476

Human endplate acetylcholinest ...... ColQ) of the asymmetric enzyme

@en

P2093

A G Engel

http://www.w3.org/2001/XMLSchema#string

A Tsujino

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J Brengman

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K Ohno

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P2860

Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit

'Touchdown' PCR to circumvent spurious priming during gene amplification

A new and rapid colorimetric determination of acetylcholinesterase activity

Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations

Molecular and cellular biology of cholinesterases

Gene structure of mammalian acetylcholinesterase. Alternative exons dictate tissue-specific expression

Patients with congenital myasthenia associated with end-plate acetylcholinesterase deficiency show normal sequence, mRNA splicing, and assembly of catalytic subunits

Collagens: molecular biology, diseases, and potentials for therapy.

Primary structure of a collagenic tail peptide of Torpedo acetylcholinesterase: co-expression with catalytic subunit induces the production of collagen-tailed forms in transfected cells.

Asymmetric and globular forms of acetylcholinesterase in mammals and birds.

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9654-9

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10.1073/PNAS.95.16.9654

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P433

16

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95

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1998-08-04T00:00:00Z

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P5875

13596358

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P698

9689136

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P921

Collagen like tail subunit of asymmetric acetylcholinesterase

P932

21394

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