Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches
Moro, Enrico (editor)
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.
Keywordsmucopolysaccharidosis 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
Webshop linkhttps://mdpi.com/books/pdfview ...
Publication date and placeBasel, Switzerland, 2021