Reprint

Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches

Edited by
September 2021
320 pages
  • ISBN978-3-0365-1967-8 (Hardback)
  • ISBN978-3-0365-1966-1 (PDF)

This book is a reprint of the Special Issue Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches that was published in

Biology & Life Sciences
Medicine & Pharmacology
Summary

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.

Format
  • Hardback
License
© by the authors
Keywords
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; lysosomes; cathepsin D; Fabry disease; enzyme replacement therapy; alpha-galactosidase A; endocytosis; lysosome; IGF2R/M6P; clathrin; chloroquine; lysosomal diseases; precision medicine; enzyme replacement therapy; pharmacological chaperones; gene therapy.; Pompe disease; lysosome; lysosomal targeting; autophagy; enzyme replacement therapy; gene therapy; muscle; satellite cells; rhGAA; Pompe disease; glycogen; lysosomal α-glucosidase; GAA biomarker; Gaucher Disease; Wnt/β-catenin; Dkk1; Wnt3a; lysosomes; iPSC; neuronopathy; Krabbe disease; Twitcher mouse; psychosine; visual system; visual cortex; astrogliosis; mucopolysaccharidosis type I; Hurler syndrome; enzyme replacement therapy; hematopoietic stem cell transplantations; animal models; experimental therapies; axon guidance; lysosomal storage disorders; neuronal circuit; lysosomal storage disorders; Fabry disease; α-galactosidase A; A4GALT; globotriaosylceramide (Gb3); globotriaosyl-sphingosine (lysoGb3); enzyme replacement therapy; pharmacological chaperone therapy; substrate reduction therapy; exosomes; endocytic pathways; neurodegenerative disease; Gaucher disease; Parkinson disease; lysosomes; lysosomal storage disorder; lysosomal diseases; gene therapy; viral vectors; Fabry disease; newborn screening; variant interpretation; second tier test; tandem mass spectrometry; lyso-Gb3; dried blood spot; α-galactosidase A; GLA gene; globotriaosylsphingosine; lysosomal storage disorders; biomarkers; gene therapy