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This compilation focuses on recent advances in the molecular and cellular understandingof neuromuscular biology, and the treatment of neuromuscular disease.These advances are at the forefront of modern molecular methodologies, oftenintegrating across wet-lab cell and tissue models, dry-lab computational approaches,and clinical studies. The continuing development and application ofmultiomics methods offer particular challenges and opportunities in the field,not least in the potential for personalized medicine.
Research & information: general --- LMNA --- Emery–Dreifuss muscular dystrophy --- Omics --- ALS --- MND --- ALS variants --- genotype–phenotype --- ALS genes --- FSHD --- DUX4 --- transcription --- muscle --- regulation --- spinal muscular atrophy --- adult patients --- disease heterogeneity --- Nusinersen --- disease modifiers --- functional outcomes --- biomarkers --- epigenetic changes --- -omics approaches --- oxidative stress --- mitochondria dysfunction --- axonal transport --- autophagy --- endocytosis --- secretion --- excitotoxicity --- RNA metabolism --- Duchenne muscular dystrophy (DMD) --- exon-skipping therapies --- next-generation sequencing (NGS) --- Sanger sequencing --- multiplex ligation probe amplification (MLPA) --- multiplex polymerase chain reaction (PCR) --- comparative genomic hybridization array (CGH) --- viltolarsen --- eteplirsen --- golodirsen --- rheumatoid arthritis --- SNP --- DMARD --- methotrexate --- pharmacogenomics --- Duchenne muscular dystrophy --- pharmacodynamic biomarkers --- prednisone --- deflazacort --- glucocorticoids --- corticosteroids --- safety --- neuromuscular diseases --- translational research --- disease models --- precision medicine --- miRNA --- proteomics --- calprotectin --- dystrophy --- Becker muscular dystrophy --- dystrophinopathy --- genotype-phenotype correlations --- Canadian Neuromuscular Disease Registry --- reading frame rule --- dystrophin --- multiple logistic regression analysis --- exon skipping therapy --- Amyotrophic Lateral Sclerosis --- machine learning --- genome-wide association studies --- GWAS --- genomics --- ALS pathology --- gene prioritization --- AAV --- genetic neuromuscular disorders --- gene therapy --- clinical trials --- toxicity --- SMA --- DMD --- XLMTM --- facioscapulohumeral dystrophy --- TALEN --- CRISPR-Cas9 --- gene editing --- polyadenylation --- D4Z4 --- duchenne muscular dystrophy (DMD) --- becker muscular dystrophy (BMD) --- exon skipping --- skip-equivalent deletions --- n/a --- Emery-Dreifuss muscular dystrophy --- genotype-phenotype
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This compilation focuses on recent advances in the molecular and cellular understandingof neuromuscular biology, and the treatment of neuromuscular disease.These advances are at the forefront of modern molecular methodologies, oftenintegrating across wet-lab cell and tissue models, dry-lab computational approaches,and clinical studies. The continuing development and application ofmultiomics methods offer particular challenges and opportunities in the field,not least in the potential for personalized medicine.
LMNA --- Emery–Dreifuss muscular dystrophy --- Omics --- ALS --- MND --- ALS variants --- genotype–phenotype --- ALS genes --- FSHD --- DUX4 --- transcription --- muscle --- regulation --- spinal muscular atrophy --- adult patients --- disease heterogeneity --- Nusinersen --- disease modifiers --- functional outcomes --- biomarkers --- epigenetic changes --- -omics approaches --- oxidative stress --- mitochondria dysfunction --- axonal transport --- autophagy --- endocytosis --- secretion --- excitotoxicity --- RNA metabolism --- Duchenne muscular dystrophy (DMD) --- exon-skipping therapies --- next-generation sequencing (NGS) --- Sanger sequencing --- multiplex ligation probe amplification (MLPA) --- multiplex polymerase chain reaction (PCR) --- comparative genomic hybridization array (CGH) --- viltolarsen --- eteplirsen --- golodirsen --- rheumatoid arthritis --- SNP --- DMARD --- methotrexate --- pharmacogenomics --- Duchenne muscular dystrophy --- pharmacodynamic biomarkers --- prednisone --- deflazacort --- glucocorticoids --- corticosteroids --- safety --- neuromuscular diseases --- translational research --- disease models --- precision medicine --- miRNA --- proteomics --- calprotectin --- dystrophy --- Becker muscular dystrophy --- dystrophinopathy --- genotype-phenotype correlations --- Canadian Neuromuscular Disease Registry --- reading frame rule --- dystrophin --- multiple logistic regression analysis --- exon skipping therapy --- Amyotrophic Lateral Sclerosis --- machine learning --- genome-wide association studies --- GWAS --- genomics --- ALS pathology --- gene prioritization --- AAV --- genetic neuromuscular disorders --- gene therapy --- clinical trials --- toxicity --- SMA --- DMD --- XLMTM --- facioscapulohumeral dystrophy --- TALEN --- CRISPR-Cas9 --- gene editing --- polyadenylation --- D4Z4 --- duchenne muscular dystrophy (DMD) --- becker muscular dystrophy (BMD) --- exon skipping --- skip-equivalent deletions --- n/a --- Emery-Dreifuss muscular dystrophy --- genotype-phenotype
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This compilation focuses on recent advances in the molecular and cellular understandingof neuromuscular biology, and the treatment of neuromuscular disease.These advances are at the forefront of modern molecular methodologies, oftenintegrating across wet-lab cell and tissue models, dry-lab computational approaches,and clinical studies. The continuing development and application ofmultiomics methods offer particular challenges and opportunities in the field,not least in the potential for personalized medicine.
Research & information: general --- LMNA --- Emery-Dreifuss muscular dystrophy --- Omics --- ALS --- MND --- ALS variants --- genotype-phenotype --- ALS genes --- FSHD --- DUX4 --- transcription --- muscle --- regulation --- spinal muscular atrophy --- adult patients --- disease heterogeneity --- Nusinersen --- disease modifiers --- functional outcomes --- biomarkers --- epigenetic changes --- -omics approaches --- oxidative stress --- mitochondria dysfunction --- axonal transport --- autophagy --- endocytosis --- secretion --- excitotoxicity --- RNA metabolism --- Duchenne muscular dystrophy (DMD) --- exon-skipping therapies --- next-generation sequencing (NGS) --- Sanger sequencing --- multiplex ligation probe amplification (MLPA) --- multiplex polymerase chain reaction (PCR) --- comparative genomic hybridization array (CGH) --- viltolarsen --- eteplirsen --- golodirsen --- rheumatoid arthritis --- SNP --- DMARD --- methotrexate --- pharmacogenomics --- Duchenne muscular dystrophy --- pharmacodynamic biomarkers --- prednisone --- deflazacort --- glucocorticoids --- corticosteroids --- safety --- neuromuscular diseases --- translational research --- disease models --- precision medicine --- miRNA --- proteomics --- calprotectin --- dystrophy --- Becker muscular dystrophy --- dystrophinopathy --- genotype-phenotype correlations --- Canadian Neuromuscular Disease Registry --- reading frame rule --- dystrophin --- multiple logistic regression analysis --- exon skipping therapy --- Amyotrophic Lateral Sclerosis --- machine learning --- genome-wide association studies --- GWAS --- genomics --- ALS pathology --- gene prioritization --- AAV --- genetic neuromuscular disorders --- gene therapy --- clinical trials --- toxicity --- SMA --- DMD --- XLMTM --- facioscapulohumeral dystrophy --- TALEN --- CRISPR-Cas9 --- gene editing --- polyadenylation --- D4Z4 --- duchenne muscular dystrophy (DMD) --- becker muscular dystrophy (BMD) --- exon skipping --- skip-equivalent deletions --- LMNA --- Emery-Dreifuss muscular dystrophy --- Omics --- ALS --- MND --- ALS variants --- genotype-phenotype --- ALS genes --- FSHD --- DUX4 --- transcription --- muscle --- regulation --- spinal muscular atrophy --- adult patients --- disease heterogeneity --- Nusinersen --- disease modifiers --- functional outcomes --- biomarkers --- epigenetic changes --- -omics approaches --- oxidative stress --- mitochondria dysfunction --- axonal transport --- autophagy --- endocytosis --- secretion --- excitotoxicity --- RNA metabolism --- Duchenne muscular dystrophy (DMD) --- exon-skipping therapies --- next-generation sequencing (NGS) --- Sanger sequencing --- multiplex ligation probe amplification (MLPA) --- multiplex polymerase chain reaction (PCR) --- comparative genomic hybridization array (CGH) --- viltolarsen --- eteplirsen --- golodirsen --- rheumatoid arthritis --- SNP --- DMARD --- methotrexate --- pharmacogenomics --- Duchenne muscular dystrophy --- pharmacodynamic biomarkers --- prednisone --- deflazacort --- glucocorticoids --- corticosteroids --- safety --- neuromuscular diseases --- translational research --- disease models --- precision medicine --- miRNA --- proteomics --- calprotectin --- dystrophy --- Becker muscular dystrophy --- dystrophinopathy --- genotype-phenotype correlations --- Canadian Neuromuscular Disease Registry --- reading frame rule --- dystrophin --- multiple logistic regression analysis --- exon skipping therapy --- Amyotrophic Lateral Sclerosis --- machine learning --- genome-wide association studies --- GWAS --- genomics --- ALS pathology --- gene prioritization --- AAV --- genetic neuromuscular disorders --- gene therapy --- clinical trials --- toxicity --- SMA --- DMD --- XLMTM --- facioscapulohumeral dystrophy --- TALEN --- CRISPR-Cas9 --- gene editing --- polyadenylation --- D4Z4 --- duchenne muscular dystrophy (DMD) --- becker muscular dystrophy (BMD) --- exon skipping --- skip-equivalent deletions
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The mechanistic target of rapamycin (mTOR) is a major signaling intermediary that coordinates favorable environmental conditions with cell growth. Indeed, as part of two functionally distinct protein complexes, named mTORC1 and mTORC2, mTOR regulates a variety of cellular processes, including protein, lipid, and nucleotide synthesis, as well as autophagy. Over the last two decades, major molecular advances have been made in mTOR signaling and have revealed the complexity of the events implicated in mTOR function and regulation. In parallel, the role of mTOR in diverse pathological conditions has also been identified, including in cancer, hamartoma, neurological, and metabolic diseases. Through a series of articles, this book focuses on the role played by mTOR in cellular processes, metabolism in particular, and highlights a panel of human diseases for which mTOR inhibition provides or might provide benefits. It also addresses future studies needed to further characterize the role of mTOR in selected disorders, which will help design novel therapeutic approaches. It is therefore intended for everyone who has an interest in mTOR biology and its application in human pathologies.
n/a --- primary cilia --- neurodegeneration --- nutrient sensor --- PI3K --- transcriptomics --- phosphorylation --- metabolic reprogramming --- autophagy --- Alzheimer’s disease --- rapalogs --- liver --- angiogenesis --- mTOR complex --- MBSCs --- advanced biliary tract cancers --- Medulloblastoma --- epithelial to mesenchymal transition --- AMPK --- p70S6K --- lipid metabolism --- thyroid cancer --- sodium iodide symporter (NIS)/SLC5A5 --- male fertility --- anesthesia --- illumina --- mTOR inhibitor --- miRNA --- Hutchinson-Gilford progeria syndrome (HGPS) --- eIFs --- Emery-Dreifuss muscular dystrophy (EDMD) --- glucose --- AKT --- oral cavity squamous cell carcinoma (OSCC) --- glucose and lipid metabolism --- cellular signaling --- aging --- tumor microenvironment --- rapamycin --- leukemia --- chloral hydrate --- rapalogues --- schizophrenia --- T-cell acute lymphoblastic leukemia --- senescence --- lamin A/C --- neurotoxicity --- neurodevelopment --- inhibitor --- methamphetamine --- pulmonary fibrosis --- mTOR --- mTOR inhibitors --- combination therapy --- proteolysis --- fluid shear stress --- tumour cachexia --- biomarkers --- synapse --- gluconeogenesis --- mTOR signal pathway --- Sertoli cells --- immunosenescence --- miRNome --- protein aggregation --- senolytics --- metabolism --- NGS --- mTORC2 --- mTORC1 --- metabolic diseases --- IonTorrent --- apoptosis --- dopamine receptor --- nocodazole --- microenvironment --- everolimus --- acute myeloid leukemia --- immunotherapy --- spermatogenesis --- bone remodeling --- signalling --- targeted therapy --- ageing --- therapy --- NVP-BEZ235 --- fructose --- physical activity --- laminopathies --- MC3T3-E1 cells --- cell signaling --- microRNA --- cancer --- lipolysis --- melatonin --- Parkinson’s disease --- Alzheimer's disease --- Parkinson's disease
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