04529nam 2201273z- 450 991055754550332120220111(CKB)5400000000044152(oapen)https://directory.doabooks.org/handle/20.500.12854/76883(oapen)doab76883(EXLCZ)99540000000004415220202201d2021 |y 0engurmn|---annantxtrdacontentcrdamediacrrdacarrierLysosomal Storage Disorders: Molecular Basis and Therapeutic ApproachesBasel, SwitzerlandMDPI - Multidisciplinary Digital Publishing Institute20211 online 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 DisordersMedicinebicsscA4GALTalpha-galactosidase Aanimal modelsastrogliosisautophagyaxon guidancebiomarkersbone involvementcathepsin DchloroquineclathrinDkk1dried blood spotendocytic pathwaysendocytosisenzyme replacement therapyexosomesexperimental therapiesFabry diseaseGAA biomarkerGaucher diseaseGaucher Diseasegene therapygene therapy.GLA geneglobotriaosyl-sphingosine (lysoGb3)globotriaosylceramide (Gb3)globotriaosylsphingosineglycogenhematopoietic stem cell transplantationsHurler syndromeIGF2R/M6PiPSCKrabbe diseaselyso-Gb3lysosomal diseaseslysosomal storage disorderlysosomal storage disorderslysosomal targetinglysosomal α-glucosidaselysosomelysosomesMIP-1βmucolipidosis IImucopolysaccharidosis IIIBmucopolysaccharidosis type ImuscleNAGLUneurodegenerative diseaseneuronal circuitneuronopathynewborn screeningOsteoimmunologyOsteopontinParkinson diseasepharmacological chaperone therapypharmacological chaperonesPompe diseaseprecision medicinepsychosinequantitative proteomicsRANK/RANKLrhGAAsatellite cellssecond tier testsortilinsubstrate reduction therapytandem mass spectrometryTGF-betaTwitcher mousevariant interpretationviral vectorsvisual cortexvisual systemWnt/β-cateninWnt3aα-galactosidase AMedicineMoro Enricoedt1312709Moro EnricoothBOOK9910557545503321Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches3030941UNINA