Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches

• Format: eBook
• Language: English
• Published: Basel, Switzerland MDPI - Multidisciplinary Digital Publishing Institute 2021
• Subjects: Medicine; A4GALT; alpha-galactosidase A; animal models; astrogliosis; autophagy; axon guidance; biomarkers; bone involvement; cathepsin D; chloroquine; clathrin; Dkk1; dried blood spot; endocytic pathways; endocytosis; enzyme replacement therapy; exosomes; experimental therapies; Fabry disease; GAA biomarker; Gaucher disease; Gaucher Disease; gene therapy; gene therapy.; GLA gene; globotriaosyl-sphingosine (lysoGb3); globotriaosylceramide (Gb3); globotriaosylsphingosine; glycogen; hematopoietic stem cell transplantations; Hurler syndrome; IGF2R/M6P; iPSC; Krabbe disease; lyso-Gb3; lysosomal diseases; lysosomal storage disorder; lysosomal storage disorders; lysosomal targeting; lysosomal α-glucosidase; lysosome; lysosomes; MIP-1β; mucolipidosis II; mucopolysaccharidosis IIIB; mucopolysaccharidosis type I; muscle; NAGLU; neurodegenerative disease; neuronal circuit; neuronopathy; newborn screening; Osteoimmunology; Osteopontin; Parkinson disease; pharmacological chaperone therapy; pharmacological chaperones; Pompe disease; precision medicine; psychosine; quantitative proteomics; RANK/RANKL; rhGAA; satellite cells; second tier test; sortilin; substrate reduction therapy; tandem mass spectrometry; TGF-beta; Twitcher mouse; variant interpretation; viral vectors; visual cortex; visual system; Wnt/β-catenin; Wnt3a; α-galactosidase A
• Online Access: Open Access: DOAB: description of the publication; Open Access: DOAB, download 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 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.