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Lysosomal storage disorders are a heterogenoeus group of rare genetic conditions affecting worldwide population and often exhibiting severe clinical manifestations. During the last two decades, the joined collaboration between scientists and clinicians has allowed to offer valuable therapeutic options to affected patients. Therefore, the tight connection between basic science and clinical medicine represents the gold standard approach to these disorders. In this context, the present book collects a piece of current scientific advances in the knowledge of disease pathogenesis and in the development of novel diagnostic and therapeutic strategies for some of these diseases. Altogether, these articles define and recapitulate which essential steps are required during the clinical management of a rare inherited disorder and describe forthcoming advances and a breakthrough in the field of lysosomal diseases.

Medicine --- mucopolysaccharidosis IIIB --- quantitative proteomics --- NAGLU --- lysosomes --- Gaucher disease --- bone involvement --- enzyme replacement therapy --- substrate reduction therapy --- Osteoimmunology --- RANK/RANKL --- Osteopontin --- MIP-1β --- mucolipidosis II --- sortilin --- TGF-beta --- cathepsin D --- Fabry disease --- alpha-galactosidase A --- endocytosis --- lysosome --- IGF2R/M6P --- clathrin --- chloroquine --- lysosomal diseases --- precision medicine --- pharmacological chaperones --- gene therapy. --- Pompe disease --- lysosomal targeting --- autophagy --- gene therapy --- muscle --- satellite cells --- rhGAA --- glycogen --- lysosomal α-glucosidase --- GAA biomarker --- Gaucher Disease --- Wnt/β-catenin --- Dkk1 --- Wnt3a --- iPSC --- neuronopathy --- Krabbe disease --- Twitcher mouse --- psychosine --- visual system --- visual cortex --- astrogliosis --- mucopolysaccharidosis type I --- Hurler syndrome --- hematopoietic stem cell transplantations --- animal models --- experimental therapies --- axon guidance --- lysosomal storage disorders --- neuronal circuit --- α-galactosidase A --- A4GALT --- globotriaosylceramide (Gb3) --- globotriaosyl-sphingosine (lysoGb3) --- pharmacological chaperone therapy --- exosomes --- endocytic pathways --- neurodegenerative disease --- Parkinson disease --- lysosomal storage disorder --- viral vectors --- newborn screening --- variant interpretation --- second tier test --- tandem mass spectrometry --- lyso-Gb3 --- dried blood spot --- GLA gene --- globotriaosylsphingosine --- biomarkers

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Lysosomal storage disorders are a heterogenoeus group of rare genetic conditions affecting worldwide population and often exhibiting severe clinical manifestations. During the last two decades, the joined collaboration between scientists and clinicians has allowed to offer valuable therapeutic options to affected patients. Therefore, the tight connection between basic science and clinical medicine represents the gold standard approach to these disorders. In this context, the present book collects a piece of current scientific advances in the knowledge of disease pathogenesis and in the development of novel diagnostic and therapeutic strategies for some of these diseases. Altogether, these articles define and recapitulate which essential steps are required during the clinical management of a rare inherited disorder and describe forthcoming advances and a breakthrough in the field of lysosomal diseases.

Medicine --- mucopolysaccharidosis IIIB --- quantitative proteomics --- NAGLU --- lysosomes --- Gaucher disease --- bone involvement --- enzyme replacement therapy --- substrate reduction therapy --- Osteoimmunology --- RANK/RANKL --- Osteopontin --- MIP-1β --- mucolipidosis II --- sortilin --- TGF-beta --- cathepsin D --- Fabry disease --- alpha-galactosidase A --- endocytosis --- lysosome --- IGF2R/M6P --- clathrin --- chloroquine --- lysosomal diseases --- precision medicine --- pharmacological chaperones --- gene therapy. --- Pompe disease --- lysosomal targeting --- autophagy --- gene therapy --- muscle --- satellite cells --- rhGAA --- glycogen --- lysosomal α-glucosidase --- GAA biomarker --- Gaucher Disease --- Wnt/β-catenin --- Dkk1 --- Wnt3a --- iPSC --- neuronopathy --- Krabbe disease --- Twitcher mouse --- psychosine --- visual system --- visual cortex --- astrogliosis --- mucopolysaccharidosis type I --- Hurler syndrome --- hematopoietic stem cell transplantations --- animal models --- experimental therapies --- axon guidance --- lysosomal storage disorders --- neuronal circuit --- α-galactosidase A --- A4GALT --- globotriaosylceramide (Gb3) --- globotriaosyl-sphingosine (lysoGb3) --- pharmacological chaperone therapy --- exosomes --- endocytic pathways --- neurodegenerative disease --- Parkinson disease --- lysosomal storage disorder --- viral vectors --- newborn screening --- variant interpretation --- second tier test --- tandem mass spectrometry --- lyso-Gb3 --- dried blood spot --- GLA gene --- globotriaosylsphingosine --- biomarkers

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Viruses of the Parvoviridae family constitute a most diverse and intriguing field of research. Parvoviruses can differ widely in their structure, genome organization and expression, virus–cell interactions, and impact on hosts. The translational implication of research on parvoviruses is relevant, since many viruses are important human and veterinary pathogens, while other viruses can be engineered as tools for oncolytic therapy or as sophisticated gene delivery vectors. Exploring the diversity and inherent complexity in the biology of these apparently simple viruses is a still challenging topic for the scientific community. The Special Issue of Viruses is a collection of recent contributions in the field of parvovirus research, encompassing many aspects of basic and translational research on viruses of the family Parvoviridae, including on their structure, replication, and gene expression in addition to virus–host interactions and the development of vaccines and viral vectors.

feline parvovirus --- virus-like particles --- VP2 protein --- antibodies --- AAV --- neuro-degenerative disease --- gene therapy --- antigenicity --- sequencing --- virus --- canine parvovirus --- peri-urban --- wild dogs --- disease transmission --- Australia --- parvovirus B19 --- G-quadruplex --- bioinformatics --- antivirals --- BRACO-19 --- pyridostatin --- oncolytic viruses --- rodent protoparvovirus H-1PV --- virus entry --- clathrin-mediated endocytosis --- parvovirus --- minute virus of mice --- RNA processing --- gene expression --- canine --- COVID-19 --- veterinary epidemiology --- B19V --- VP1u --- receptor --- PLA2 --- erythroid cells --- biomarker --- drug delivery --- nanocarrier --- B19 parvovirus --- detection --- cell cycle --- permissivity --- serotype --- capsid --- cryo-EM --- genome packaging --- gene delivery --- bocavirus --- Caribbean region --- new CPV-2a --- outbreak --- endemic --- nearly complete genomes --- virus evolution --- parvoviruses --- nucleus --- imaging of viral interactions and dynamics --- analysis of protein–protein interactions --- analysis of virus–chromatin interactions --- AMDV --- Aleutian disease --- mink parvovirus --- Aleutian mink disease virus --- vaccine

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The aim of this Special Issue is to collect reports regarding all the recent strategies, directed at the improvement of antineoplastic activity of drugs in cancer progression, engaging all the expertise needed for the development of new anticancer drugs: medicinal chemistry, pharmacology, molecular biology, and computational and drug delivery studies.

Research & information: general --- Biology, life sciences --- EGR-1 --- flavonoid --- (E)-5-((4-oxo-4H-chromen-3-yl)methyleneamino)-1-phenyl-1H-pyrazole-4-carbonitrile --- MDA-MB-231 --- MMP9 --- TNFα --- pancreatic ductal adenocarcinoma --- cyclodextrin inclusion complex --- phase solubility studies --- preformulation studies --- biphenylnicotinamide derivatives --- dual inhibitor --- EGFR --- VEGFR2 --- ligand-based pharmacophore --- molecular docking --- molecular dynamics --- leukemias --- doxorubicin --- inflammation --- drug delivery --- tumor targeting --- elastin-like polypeptide --- cell penetrating peptide --- matrix metalloproteinase --- doxorubicin resistance --- photosensitizer delivery system --- PAMAM dendrimer --- photodynamic therapy --- cytotoxicity --- phototoxicity --- colorectal adenocarcinoma --- dicarboximides --- chemical synthesis --- apoptosis --- kinases --- anticancer --- gene profiling --- SAR --- biomarkers --- colorectal cancer --- early detection examination --- liquid biopsy --- personalized medicine --- tumor treatment --- exosomes --- ctDNA --- CTC --- cytotoxic activity --- pyrazole derivatives --- MTT assay --- ADMET analysis --- single-crystal diffraction --- FTIR spectroscopy --- NMR spectroscopy thermogravimetric analysis --- acute myelogenous leukemia --- platelets --- microparticles --- γδ T cells --- immunotherapy --- tumor resistance --- combination therapy --- tumor microenvironment --- immune checkpoint inhibitor --- neuroblastoma --- molecular iodine --- cyclophosphamide --- xenografts --- metronomic therapy --- tamoxifen --- CYP2D6 --- MCF-7 --- Ishikawa cells --- SERM --- TNBC --- uterotrophic --- α-mangostin --- poly(amidoamine) dendrimer --- targeted drug delivery --- biotin targeting --- glioblastoma multiforme --- squamous cell carcinoma --- antiparasitic therapy --- diclofenac --- indomethacin --- oleanolic acid derivative conjugates --- NF-κB --- Nrf2 --- MAPKs --- PSN-1 cells --- reactive oxygen species --- glioblastoma --- brain tumor --- extracellular vesicles --- pancreatic cancer --- paclitaxel --- clathrin --- endocytosis --- sulforaphane --- nicotine --- metalloproteinase-9 --- gastric cancer --- cell invasion --- Arylquin 1 --- colon cancer --- tumor progression --- azelastine --- oxidative stress --- autophagy --- mitotic catastrophe --- chronic myeloid leukemia --- imatinib --- tyrosine kinase --- ketoconazole --- P-glycoprotein --- drug efflux transporter --- non-small-cell lung cancer --- cisplatin resistance --- aldehyde dehydrogenase --- isothiocyanates --- disulfiram --- epithelial to mesenchymal transition --- aminopeptidase N --- acetamidophenones --- Schiff bases --- semicarbazones --- thiosemicarbazones --- inhibition of proliferation

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Following the implementation of next-generation sequencing technologies (e.g., exome and genome sequencing) in molecular diagnostics, the majority of genetic defects underlying inherited retinal disease (IRD) can readily be identified. In parallel, opportunities to counteract the molecular consequences of these defects are rapidly emerging, providing hope for personalized medicine. ‘Classical’ gene augmentation therapy has been under study for several genetic subtypes of IRD and can be considered a safe and sometimes effective therapeutic strategy. The recent market approval of the first retinal gene augmentation therapy product (LuxturnaTM, for individuals with bi-allelic RPE65 mutations) by the FDA has not only demonstrated the potential of this specific approach, but also opened avenues for the development of other strategies. However, every gene—or even every mutation—may need a tailor-made therapeutic approach, in order to obtain the most efficacious strategy with minimal risks associated. In addition to gene augmentation therapy, other subtypes of molecular therapy are currently being designed and/or implemented, including splice modulation, DNA or RNA editing, optogenetics and pharmacological modulation. In addition, the development of proper delivery vectors has gained strong attention, and should not be overlooked when designing and testing a novel therapeutic approach. In this Special Issue, we aim to describe the current state of the art of molecular therapeutics for IRD, and discuss existing and novel therapeutic strategies, from idea to implementation, and from bench to bedside.

Research & information: general --- Biology, life sciences --- induced pluripotent stem cell (iPSC) --- clustered regularly interspaced short palindromic repeats (CRISPR) --- homology-directed repair (HDR) --- Enhanced S-Cone Syndrome (ESCS) --- NR2E3 --- AAV --- retina --- gene therapy --- dual AAV --- gold nanoparticles --- DNA-wrapped gold nanoparticles --- ARPE-19 cells --- retinal pigment epithelium --- clathrin-coated vesicles --- endosomal trafficking --- retinitis pigmentosa --- autosomal dominant --- G56R --- putative dominant negative effect --- gapmer antisense oligonucleotides --- allele-specific knockdown --- Leber congenital amaurosis and allied retinal ciliopathies --- CEP290 --- Flanders founder c.4723A &gt --- T nonsense mutation --- Cilia elongation --- spontaneous nonsense correction --- AON-mediated exon skipping --- microRNA --- photoreceptors --- rods --- cones --- bipolar cells --- Müller glia --- retinal inherited disorders --- retinal degeneration --- antisense oligonucleotides --- Stargardt disease --- inherited retinal diseases --- splicing modulation --- RNA therapy --- ABCA4 --- iPSC-derived photoreceptor precursor cells --- cyclic GMP --- apoptosis --- necrosis --- drug delivery systems --- translational medicine --- Usher syndrome --- Leber congenital amaurosis --- RPE65 --- nonprofit --- patient registry --- translational --- protein trafficking --- protein folding --- protein degradation --- chaperones --- chaperonins --- heat shock response --- unfolded protein response --- autophagy --- therapy --- IRD --- DNA therapies --- RNA therapies --- compound therapies --- clinical trials --- Retinitis Pigmentosa GTPase Regulator --- adeno-associated viral --- Retinitis Pigmentosa (RP) --- choroideremia --- REP1 --- inherited retinal disease --- treatment --- apical polarity --- crumbs complex --- fetal retina --- PAR complex --- retinal organoids --- retinogenesis --- gene augmentation --- adeno-associated virus (AAV) --- n/a --- Müller glia