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Protein import into the endoplasmic reticulum (ER) is the first step in the biogenesis of approximately 10,000 different soluble and membrane proteins of human cells, which amounts to about 30% of the proteome. Most of these proteins fulfill their functions either in the membrane or lumen of the ER plus the nuclear envelope, in one of the organelles of the pathways for endo- and exocytosis (ERGIC, Golgi apparatus, endosome, lysosome, and trafficking vesicles), or at the cell surface as plasma membrane or secreted proteins. An increasing number of membrane proteins destined to lipid droplets, peroxisomes or mitochondria are first targeted to and inserted into the ER membrane prior to their integration into budding lipid droplets or peroxisomes or prior to their delivery to mitochondria via the ER-SURF pathway. ER protein import involves two stages, ER targeting, which guarantees membrane specificity, and the insertion of nascent membrane proteins into or translocation of soluble precursor polypeptides across the ER membrane. In most cases, both processes depend on amino-terminal signal peptides or transmembrane helices, which serve as signal peptide equivalents. However, the targeting reaction can also involve the ER targeting of specific mRNAs or ribosome–nascent chain complexes. Both processes may occur co- or post-translationally and are facilitated by various sophisticated machineries, which reside in the cytosol and the ER membrane, respectively. Except for resident ER and mitochondrial membrane proteins, the mature proteins are delivered to their functional locations by vesicular transport.

chaperones --- contact sites --- endoplasmic reticulum --- ER-SURF --- membrane extraction --- mitochondria --- protein targeting --- bimolecular luminescence complementation --- competition --- split luciferase --- membrane proteins --- protein–protein interactions --- Sec61 complex --- Sec63 --- synthetic peptide complementation --- TRAP complex --- ER protein translocase --- signal peptide --- protein translocation --- nascent peptide chain --- membrane insertion --- molecular modelling --- molecular dynamics simulations --- molecular docking --- signal peptidase --- ER translocon --- signal recognition particle dependent protein targeting --- Sec61 dependent translocation --- co-translational translocation --- inhibitor --- high throughput screening --- Sec61 --- Sec62 --- folding --- insertion --- membrane protein --- translocon --- ribosome --- transmembrane segment --- lipid droplets --- peroxisomes --- PEX3 --- membrane protein insertion --- label-free quantitative mass spectrometry --- differential protein abundance analysis --- Zellweger syndrome --- GET --- protein transport --- SND --- SRP --- EMC --- positive-inside rule --- hydrophobicity --- transmembrane helix --- signal recognition particle --- nascent polypeptide-associated complex --- fidelity --- cyclotriazadisulfonamide --- ER quality control --- DNAJC3 --- preprotein --- Sec61 translocon --- ribosome stalling --- signal sequence --- Sec61 translocase --- NAC --- n/a --- protein-protein interactions

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Significant scientific and therapeutic advances have been made in recent decades, particularly in hereditary but also in acquired neuromuscular diseases. As a result of our increasing etiological understanding, the classification of these diseases has changed from a clinical–descriptive and formal–genetic to a molecular–genetic and pathophysiological one. This has led to an intensification of research into the diagnosis and treatment of these diseases, resulting in the first effective gene-modifying treatments for DMD and SMA in recent years and, more recently, gene replacement therapy for the most severe form of SMA. In addition, great strides have been made in symptomatic and rehabilitative treatment, making it possible to improve the functioning and quality of life of those affected and their families. This Special Issue of Children contains a collection of 12 studies and reviews dealing with genetic and acquired peripheral nerve and muscle disorders.

Medicine --- Neurology & clinical neurophysiology --- Pompe disease --- GAA gene --- general population database --- carrier frequency --- genetic prevalence --- spinal muscular atrophy --- quality of life --- child neurology --- patient-reported outcomes --- neuromuscular --- carpal tunnel syndrome --- median nerve neuropathy --- electrodiagnostic studies --- neuromuscular ultrasound --- mucopolysaccharidosis --- neuropathy --- children --- adolescents --- Charcot-Marie-Tooth disease --- traumatic neuropathy --- inflammatory neuropathy --- metabolic neuropathy --- posterior spinal fusion --- kyphosis --- sagittal plane deformity --- signal recognition particle --- 3-hydroxy-3-methylglutaryl --- coenzyme A reductase --- juvenile myositis --- therapy --- clinical course --- chaperone-assisted autophagy --- clinical trials --- Duchenne muscular dystrophy --- public health surveillance --- distal arthrogryposis --- AMC --- ECEL1 --- contractures --- muscle MRI --- spinal muscular atrophy (SMA) --- nusinersen --- fine manual dexterity --- ultrasonographic elastography --- neuromuscular disease --- muscle --- brachial plexus neuritis --- hereditary sensory and motor neuropathy --- paralysis --- vaccination --- pediatrics --- Pompe disease --- GAA gene --- general population database --- carrier frequency --- genetic prevalence --- spinal muscular atrophy --- quality of life --- child neurology --- patient-reported outcomes --- neuromuscular --- carpal tunnel syndrome --- median nerve neuropathy --- electrodiagnostic studies --- neuromuscular ultrasound --- mucopolysaccharidosis --- neuropathy --- children --- adolescents --- Charcot-Marie-Tooth disease --- traumatic neuropathy --- inflammatory neuropathy --- metabolic neuropathy --- posterior spinal fusion --- kyphosis --- sagittal plane deformity --- signal recognition particle --- 3-hydroxy-3-methylglutaryl --- coenzyme A reductase --- juvenile myositis --- therapy --- clinical course --- chaperone-assisted autophagy --- clinical trials --- Duchenne muscular dystrophy --- public health surveillance --- distal arthrogryposis --- AMC --- ECEL1 --- contractures --- muscle MRI --- spinal muscular atrophy (SMA) --- nusinersen --- fine manual dexterity --- ultrasonographic elastography --- neuromuscular disease --- muscle --- brachial plexus neuritis --- hereditary sensory and motor neuropathy --- paralysis --- vaccination --- pediatrics

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• Reference Manager
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Significant scientific and therapeutic advances have been made in recent decades, particularly in hereditary but also in acquired neuromuscular diseases. As a result of our increasing etiological understanding, the classification of these diseases has changed from a clinical–descriptive and formal–genetic to a molecular–genetic and pathophysiological one. This has led to an intensification of research into the diagnosis and treatment of these diseases, resulting in the first effective gene-modifying treatments for DMD and SMA in recent years and, more recently, gene replacement therapy for the most severe form of SMA. In addition, great strides have been made in symptomatic and rehabilitative treatment, making it possible to improve the functioning and quality of life of those affected and their families. This Special Issue of Children contains a collection of 12 studies and reviews dealing with genetic and acquired peripheral nerve and muscle disorders.

Pompe disease --- GAA gene --- general population database --- carrier frequency --- genetic prevalence --- spinal muscular atrophy --- quality of life --- child neurology --- patient-reported outcomes --- neuromuscular --- carpal tunnel syndrome --- median nerve neuropathy --- electrodiagnostic studies --- neuromuscular ultrasound --- mucopolysaccharidosis --- neuropathy --- children --- adolescents --- Charcot–Marie–Tooth disease --- traumatic neuropathy --- inflammatory neuropathy --- metabolic neuropathy --- posterior spinal fusion --- kyphosis --- sagittal plane deformity --- signal recognition particle --- 3-hydroxy-3-methylglutaryl --- coenzyme A reductase --- juvenile myositis --- therapy --- clinical course --- chaperone-assisted autophagy --- clinical trials --- Duchenne muscular dystrophy --- public health surveillance --- distal arthrogryposis --- AMC --- ECEL1 --- contractures --- muscle MRI --- spinal muscular atrophy (SMA) --- nusinersen --- fine manual dexterity --- ultrasonographic elastography --- neuromuscular disease --- muscle --- brachial plexus neuritis --- hereditary sensory and motor neuropathy --- paralysis --- vaccination --- pediatrics --- n/a --- Charcot-Marie-Tooth disease