Serum choline activates mutant acetylcholine receptors that cause slow channel congenital myasthenic syndromes (original) (raw)

Slow-Channel Myasthenic Syndrome Caused By Enhanced Activation, Desensitization, and Agonist Binding Affinity Attributable to Mutation in the M2 Domain of the Acetylcholine Receptor α Subunit

The Journal of Neuroscience, 1997

Slow-Channel Myasthenic Syndrome Caused By Enhanced Activation, Desensitization, and Agonist Binding Affinity Attributable to Mutation in the M2 Domain of the Acetylcholine Receptor a Subunit

Nina Bren

Mutation of the acetylcholine receptor α subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity

Neuron, 1995

Mutations in Different Functional Domains of the Human Muscle Acetylcholine Receptor Subunit in Patients with the Slow-Channel congenital Myasthenic Syndrome

David Beeson

Human Molecular Genetics, 1997

Newly recognized congenital myasthenic syndrome associated with high conductance and fast closure of the acetylcholine receptor channel

John Bodensteiner, Andrew Engel

Annals of Neurology, 1993

A ?-subunit mutation in the acetylcholine receptor channel gate causes severe slow-channel syndrome

Jose Lasalde

Annals of Neurology, 1996

Congenital Myasthenic Syndrome Caused by Decreased Agonist Binding Affinity Due to a Mutation in the Acetylcholine Receptor ε Subunit

Nina Bren

Neuron, 1996

Congenital myasthenic syndromes: I. Deficiency and short open-time of the acetylcholine receptor

Muscle & Nerve, 1993

Slow-Channel Congenital Myasthenic Syndrome due to a Novel Mutation in the Acetylcholine Receptor Alpha Subunit in a South Asian: A Case Report

Sunethra Senanayake

Journal of neuromuscular diseases, 2021

Congenital myasthenic syndromes: II. Syndrome attributed to abnormal interaction of acetylcholine with its receptor

Muscle & Nerve, 1993

Slow-Channel Syndromes • review article • Decoding Pathogenesis of Slow-channel congenital Myasthenic Syndromes using recombinant expression and Mice Models

Emanuel Reyes

2010

Congenital Myasthenic Syndromes due to Heteroallelic Nonsense/Missense Mutations in the Acetylcholine Receptor Subunit Gene: Identification and Functional Characterization of Six New Mutations

Human Molecular Genetics, 1997

Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations

Sidney M Gospe

Human Mutation, 2015

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

Proceedings of the National Academy of Sciences, 1995

Decoding pathogenesis of slow-channel congenital myasthenic syndromes using recombinant expression and mice models

Emanuel Reyes

Puerto Rico health sciences journal, 2010

Mutations causing congenital myasthenia reveal principal coupling pathway in the acetylcholine receptor ε-subunit

Nur Yuceyar

JCI insight, 2018

Congenital Myasthenic Syndrome Due to Choline Acetyltransferase Mutations in Infants: Clinical Suspicion and Comprehensive Electrophysiological Assessment Are Important for Early Diagnosis

Robertino Dilena

Journal of Child Neurology, 2014

Rare slow channel congenital myasthenic syndromes without repetitive compound muscle action potential and dramatic response to low dose fluoxetine

feza deymeer

Acta Neurologica Belgica, 2020

Acetylcholine receptor δ subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita

David Beeson

Journal of Clinical Investigation, 2001

Myasthenic syndrome AChRα C-loop mutant disrupts initiation of channel gating

Journal of Clinical Investigation, 2012

Congenital myasthenic syndromes: genetic defects of the neuromuscular junction

Current neurology and neuroscience reports, 2002

Calcium channel subtypes contributing to acetylcholine release from normal, 4-aminopyridine-treated and myasthenic syndrome auto-antibodies-affected neuromuscular junctions

Federica Giovannini

British Journal of Pharmacology, 2002

A novel c.973G>T mutation in the ε-subunit of the acetylcholine receptor causing congenital myasthenic syndrome in an iranian family

Parvaneh Karimzadeh

Balkan Journal of Medical Genetics, 2019

Myasthenic serum selectively blocks acetylcholine receptors with long channel open times at developing rat endplates

Stefano Vicini

Proceedings of the National Academy of Sciences, 1985

AChR Channel Blockade by Quinidine Sulfate Reduces Channel Open Duration in the Slow-Channel Congenital Myasthenic Syndromea

Annals of the New York Academy of Sciences, 1998

Attributable to Mutation in the M 2 Domain of the Acetylcholine Receptor a Subunit

1997

Congenital myasthenic syndromes: A diverse array of molecular targets

Journal of Neurocytology, 2003

Fast and slow-twitching muscles are differentially affected by reduced cholinergic transmission in mice deficient for VAChT: A mouse model for congenital myasthenia

Candido coimbra

Neurochemistry International, 2018