Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches
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...
Wedi'i Gadw mewn:
| Fformat: | Online |
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| Iaith: | Saesneg |
| Cyhoeddwyd: |
MDPI - Multidisciplinary Digital Publishing Institute
2022
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| Pynciau: | |
| Mynediad Ar-lein: | ONIX_20220111_9783036519678_618 |
| Tagiau: |
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!
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| _version_ | 1869520501772124160 |
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| collection | Directory of Open Access Books |
| description | 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 | Online |
| id | doab-20.500.12854ir-76883 |
| institution | Directory of Open Access Books |
| language | eng |
| publishDate | 2022 |
| publishDateRange | 2022 |
| publishDateSort | 2022 |
| publisher | MDPI - Multidisciplinary Digital Publishing Institute |
| publisherStr | MDPI - Multidisciplinary Digital Publishing Institute |
| record_format | ojs |
| spelling | doab-20.500.12854ir-768832024-03-30T23:22:40Z Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches Moro, Enrico 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 thema EDItEUR::M Medicine and Nursing 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. 2022-01-11T13:45:08Z 2022-01-11T13:45:08Z 2021 book ONIX_20220111_9783036519678_618 9783036519678 9783036519661 https://directory.doabooks.org/handle/20.500.12854/76883 eng image/jpeg Attribution 4.0 International https://mdpi.com/books/pdfview/book/4353 https://mdpi.com/books/pdfview/book/4353 MDPI - Multidisciplinary Digital Publishing Institute 10.3390/books978-3-0365-1966-1 10.3390/books978-3-0365-1966-1 46cabcaa-dd94-4bfe-87b4-55023c1b36d0 9783036519678 9783036519661 301 Basel, Switzerland open access |
| spellingShingle | 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 thema EDItEUR::M Medicine and Nursing Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches |
| title | Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches |
| title_full | Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches |
| title_fullStr | Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches |
| title_full_unstemmed | Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches |
| title_short | Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches |
| title_sort | lysosomal storage disorders molecular basis and therapeutic approaches |
| topic | 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 thema EDItEUR::M Medicine and Nursing |
| topic_facet | 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 thema EDItEUR::M Medicine and Nursing |
| url | ONIX_20220111_9783036519678_618 |