Cargando…

Modulation of the Acetylcholine Receptor Clustering Pathway Improves Neuromuscular Junction Structure and Muscle Strength in a Mouse Model of Congenital Myasthenic Syndrome

Introduction: Congenital myasthenic syndromes (CMS) are a diverse group of inherited neuromuscular disorders characterized by a failure of synaptic transmission at the neuromuscular junction (NMJ). CMS often present early with fatigable weakness and can be fatal through respiratory complications. Th...

Descripción completa

Detalles Bibliográficos
Autores principales:	Spendiff, Sally, Howarth, Rachel, McMacken, Grace, Davey, Tracey, Quinlan, Kaitlyn, O'Connor, Emily, Slater, Clarke, Hettwer, Stefan, Mäder, Armin, Roos, Andreas, Horvath, Rita, Lochmüller, Hanns
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2020
Materias:	Neuroscience
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7773664/ https://www.ncbi.nlm.nih.gov/pubmed/33390901 http://dx.doi.org/10.3389/fnmol.2020.594220

Ejemplares similares

Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome
por: McMacken, Grace M, et al.
Publicado: (2019)

The beta-adrenergic agonist salbutamol modulates neuromuscular junction formation in zebrafish models of human myasthenic syndromes
por: McMacken, Grace, et al.
Publicado: (2018)

Mitochondrial Mutations Can Alter Neuromuscular Transmission in Congenital Myasthenic Syndrome and Mitochondrial Disease
por: O’Connor, Kaela, et al.
Publicado: (2023)

Neuromuscular junction involvement in inherited motor neuropathies: genetic heterogeneity and effect of oral salbutamol treatment
por: McMacken, Grace, et al.
Publicado: (2023)

Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients
por: McMacken, Grace, et al.
Publicado: (2017)

Modulation of Agrin and RhoA Pathways Ameliorates Movement Defects and Synapse Morphology in MYO9A-Depleted Zebrafish
por: O’Connor, Emily, et al.
Publicado: (2019)

Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C
por: Cipriani, Silvia, et al.
Publicado: (2018)

Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions
por: Nicole, Sophie, et al.
Publicado: (2017)

Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models
por: Pugliese, Alessia, et al.
Publicado: (2023)

Autoregulation of Acetylcholine Release and Micro-Pharmacodynamic Mechanisms at Neuromuscular Junction: Selective Acetylcholinesterase Inhibitors for Therapy of Myasthenic Syndromes
por: Petrov, Konstantin A., et al.
Publicado: (2018)

The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes
por: Rodríguez Cruz, Pedro M., et al.
Publicado: (2018)

The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome
por: Liao, Xufeng, et al.
Publicado: (2023)

MYO9A deficiency in motor neurons is associated with reduced neuromuscular agrin secretion
por: O’Connor, Emily, et al.
Publicado: (2018)

Congenital Myasthenic Syndromes with Predominant Limb Girdle Weakness
por: Evangelista, Teresinha, et al.
Publicado: (2015)

Editorial: Molecular Mechanisms Underlying Assembly and Maintenance of the Neuromuscular Junction
por: Herbst, Ruth, et al.
Publicado: (2021)

Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant
por: Balaraju, Sunitha, et al.
Publicado: (2019)

Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion
por: McMacken, Grace, et al.
Publicado: (2020)

The Metabolic Stability of the Nicotinic Acetylcholine Receptor at the Neuromuscular Junction
por: Martinez-Pena y Valenzuela, Isabel, et al.
Publicado: (2021)

Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome
por: Thompson, Rachel, et al.
Publicado: (2019)

Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes
por: Azuma, Yoshiteru, et al.
Publicado: (2017)

The Function of Cortactin in the Clustering of Acetylcholine Receptors at the Vertebrate Neuromuscular Junction
por: Madhavan, Raghavan, et al.
Publicado: (2009)

Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes—A Retrospective Single Centre Cohort Study
por: Della Marina, Adela, et al.
Publicado: (2020)

Animal Models of the Neuromuscular Junction, Vitally Informative for Understanding Function and the Molecular Mechanisms of Congenital Myasthenic Syndromes
por: Webster, Richard G.
Publicado: (2018)

Metabolic stabilization of acetylcholine receptors in vertebrate neuromuscular junction by muscle activity
Publicado: (1990)

Degradation rate of acetylcholine receptors inserted into denervated vertebrate neuromuscular junctions
Publicado: (1989)

Influence of neostigmine treatment on embryonic development of acetylcholine receptors and neuromuscular junctions
Publicado: (1982)

Correction: The Function of Cortactin in the Clustering of Acetylcholine Receptors at the Vertebrate Neuromuscular Junction
por: Madhavan, Raghavan, et al.
Publicado: (2010)

Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome
por: O’Connor, Emily, et al.
Publicado: (2016)

Distribution and turnover rate of acetylcholine receptors throughout the junction folds at a vertebrate neuromuscular junction
Publicado: (1983)

Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies
por: Belaya, Katsiaryna, et al.
Publicado: (2015)

A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era
por: Thompson, Rachel, et al.
Publicado: (2018)

Presynaptic Acetylcholine Receptors Modulate the Time Course of Action Potential-Evoked Acetylcholine Quanta Secretion at Neuromuscular Junctions
por: Bukharaeva, Ellya A., et al.
Publicado: (2022)

VAChT overexpression increases acetylcholine at the synaptic cleft and accelerates aging of neuromuscular junctions
por: Sugita, Satoshi, et al.
Publicado: (2016)

GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice
por: Issop, Yasmin, et al.
Publicado: (2018)

Caveolin-3 Promotes Nicotinic Acetylcholine Receptor Clustering and Regulates Neuromuscular Junction Activity
por: Hezel, Michael, et al.
Publicado: (2010)

Acetylcholine-Induced Inhibition of Presynaptic Calcium Signals and Transmitter Release in the Frog Neuromuscular Junction
por: Khaziev, Eduard, et al.
Publicado: (2016)

Augmented quantal release of acetylcholine at the vertebrate neuromuscular junction following tdp-43 depletion
por: Dzieciolowska, Stefania, et al.
Publicado: (2017)

Effects of a Fat-Rich Diet on the Spontaneous Release of Acetylcholine in the Neuromuscular Junction of Mice
por: Gimenez-Donoso, Carlos, et al.
Publicado: (2020)

A multi-source approach to determine SMA incidence and research ready population
por: Verhaart, Ingrid E. C., et al.
Publicado: (2017)

Degradation rates of acetylcholine receptors can be modified in the postjunctional plasma membrane of the vertebrate neuromuscular junction
Publicado: (1986)

Cannot write session to /tmp/vufind_sessions/sess_ugv0htjus9alb1da37nsmgeccc