Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches
Moro, Enrico
Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches - Basel, Switzerland MDPI - Multidisciplinary Digital Publishing Institute 2021 - 1 electronic resource (301 p.)
Open Access
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.
Creative Commons
English
books978-3-0365-1966-1 9783036519678 9783036519661
10.3390/books978-3-0365-1966-1 doi
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
Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches - Basel, Switzerland MDPI - Multidisciplinary Digital Publishing Institute 2021 - 1 electronic resource (301 p.)
Open Access
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.
Creative Commons
English
books978-3-0365-1966-1 9783036519678 9783036519661
10.3390/books978-3-0365-1966-1 doi
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