2-Phenethylamines in medicinal chemistry: A review

CT Nieto, A Manchado, L Belda, D Diez, NM Garrido - Molecules, 2023 - mdpi.com
A concise review covering updated presence and role of 2-phenethylamines in medicinal
chemistry is presented. Open-chain, flexible alicyclic amine derivatives of this motif are …

The congenital myasthenic syndromes: expanding genetic and phenotypic spectrums and refining treatment strategies

AE Vanhaesebrouck, D Beeson - Current opinion in neurology, 2019 - journals.lww.com
Recent studies of the CMS illustrate the increasing complexity of the genetics and
pathophysiological mechanisms involved. With therapy tailored for the underlying disease …

The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations

PM Rodríguez Cruz, J Cossins, E de Paula Estephan… - Brain, 2019 - academic.oup.com
Next generation sequencing techniques were recently used to show mutations in COL13A1
cause synaptic basal lamina-associated congenital myasthenic syndrome type 19. Animal …

β2-Adrenergic receptor agonists ameliorate the adverse effect of long-term pyridostigmine on neuromuscular junction structure

AE Vanhaesebrouck, R Webster, S Maxwell… - Brain, 2019 - academic.oup.com
Acetylcholine receptor deficiency is the most common form of the congenital myasthenic
syndromes, a heterogeneous collection of genetic disorders of neuromuscular transmission …

Effect of salbutamol on neuromuscular junction function and structure in a mouse model of DOK7 congenital myasthenia

RG Webster, AE Vanhaesebrouck… - Human Molecular …, 2020 - academic.oup.com
Congenital myasthenic syndromes (CMS) are characterized by fatigable muscle weakness
resulting from impaired neuromuscular transmission. β2-adrenergic agonists are an effective …

β2-Adrenergic Regulation of the Neuromuscular Transmission and Its Lipid-Dependent Switch

CR Gafurova, AN Tsentsevitsky, NS Fedorov… - Molecular …, 2024 - Springer
Abstract β2-Adrenoceptors (β2-ARs) are the most abundant subtype of adrenergic receptors
in skeletal muscles. Their activation via a stabilization of postsynaptic architecture has …

Sympathomimetics regulate neuromuscular junction transmission through TRPV1, P/Q-and N-type Ca2+ channels

AZC Rodrigues, ZM Wang, ML Messi… - Molecular and Cellular …, 2019 - Elsevier
Increasing evidence indicates that, first, the sympathetic nervous system interacts
extensively with both vasculature and skeletal muscle fibers near neuromuscular junctions …

Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome

GM McMacken, S Spendiff, RG Whittaker… - Human molecular …, 2019 - academic.oup.com
The β-adrenergic agonists salbutamol and ephedrine have proven to be effective as
therapies for human disorders of the neuromuscular junction, in particular many subsets of …

Neuromuscular junction involvement in inherited motor neuropathies: genetic heterogeneity and effect of oral salbutamol treatment

G McMacken, RG Whittaker, R Wake, H Lochmuller… - Journal of …, 2023 - Springer
Objectives Inherited defects of the neuromuscular junction (NMJ) comprise an increasingly
diverse range of diseases. Several recently identified genes highlight the overlap between …

Evolution and divergence of teleost adrenergic receptors: why sometimes 'the drugs don't work'in fish

W Joyce, J Warwicker, HA Shiels… - Journal of …, 2023 - journals.biologists.com
Adrenaline and noradrenaline, released as hormones and/or neurotransmitters, exert
diverse physiological functions in vertebrates, and teleost fishes are widely used as model …