04512nam 2201261z- 450 991055754550332120231214133615.0(CKB)5400000000044152(oapen)https://directory.doabooks.org/handle/20.500.12854/76883(EXLCZ)99540000000004415220202201d2021 |y 0engurmn|---annantxtrdacontentcrdamediacrrdacarrierLysosomal Storage Disorders: Molecular Basis and Therapeutic ApproachesBasel, SwitzerlandMDPI - Multidisciplinary Digital Publishing Institute20211 electronic resource (301 p.)3-0365-1967-X 3-0365-1966-1 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.Lysosomal Storage DisordersMedicinebicsscmucopolysaccharidosis IIIBquantitative proteomicsNAGLUlysosomesGaucher diseasebone involvementenzyme replacement therapysubstrate reduction therapyOsteoimmunologyRANK/RANKLOsteopontinMIP-1βmucolipidosis IIsortilinTGF-betacathepsin DFabry diseasealpha-galactosidase AendocytosislysosomeIGF2R/M6Pclathrinchloroquinelysosomal diseasesprecision medicinepharmacological chaperonesgene therapy.Pompe diseaselysosomal targetingautophagygene therapymusclesatellite cellsrhGAAglycogenlysosomal α-glucosidaseGAA biomarkerGaucher DiseaseWnt/β-cateninDkk1Wnt3aiPSCneuronopathyKrabbe diseaseTwitcher mousepsychosinevisual systemvisual cortexastrogliosismucopolysaccharidosis type IHurler syndromehematopoietic stem cell transplantationsanimal modelsexperimental therapiesaxon guidancelysosomal storage disordersneuronal circuitα-galactosidase AA4GALTglobotriaosylceramide (Gb3)globotriaosyl-sphingosine (lysoGb3)pharmacological chaperone therapyexosomesendocytic pathwaysneurodegenerative diseaseParkinson diseaselysosomal storage disorderviral vectorsnewborn screeningvariant interpretationsecond tier testtandem mass spectrometrylyso-Gb3dried blood spotGLA geneglobotriaosylsphingosinebiomarkersMedicineMoro Enricoedt1312709Moro EnricoothBOOK9910557545503321Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches3030941UNINA