Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches

• Weitere Verfasser: Moro, Enrico (Herausgegeben von)
• Format: Elektronisch Buchkapitel
• Sprache: Englisch
• Veröffentlicht: Basel, Switzerland MDPI - Multidisciplinary Digital Publishing Institute 2021
• Schlagworte: 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
• Online-Zugang: DOAB: download the publication; DOAB: description of the publication

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 optio...