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Pulmonary fibrosis caused by inhaled inorganic particles is a pathology with reserved outcomes that affects numerous people around the world. Fibrosis is the result of uncontrolled wound repairing with anarchic fibroblast proliferation and collagen deposition. In the laboratory, we developed a model of pulmonary fibrosis induced by trans-oral instillation of silica that reproduces the development of silicotic granulomas. This model 15 used to investigate the mechanisms in which immunosuppressive responses could trigger fibrosis development. In this study, we were interested in the Myeloid-Derived Suppressor Cells (MDSC), a population of immunosuppressive cells (marked CD11bGR1 in mice) derived from the bone marrow and widely described in cancer literature, To date, no studies have been made on their involvement in both immunosuppressive and fibrotic responses in mice treated with silica. Our results indicate a lung accumulation of MDSC during the development of silicosis in mice. We discovered that MDSC purified from silicotic mice highly express osteopontin, a cytokine involved in granuloma formation and fibrosis extension. Moreover, MDSC purified from mice during silicotic responses increase fibroblast proliferation and granuloma formation in transferred naïve mice. However, purified cells marked CD11bGR1 also induce proliferation of fibroblasts in vitro and formation of granulomas after their transfer in naïve mice as well as CD1IbGR1. These in vivo effects are narrowly associated with high content of osteopontin. Altogether, these results suggest that the CD11bGR1, CD11bGR1 and osteopontin have important roles in silicosis by inducing fibroblasts proliferation, collagen accumulation and granuloma formation La fibrose pulmonaire causée par l’inhalation de particules inorganiques est une pathologie au pronostic réservé qui touche, encore de nos jours, de nombreuses personnes à travers le monde. La fibrose d’un point de vue général est le résultat d’une réparation tissulaire exagérée caractérisée par une accumulation anarchique de fibroblastes et de protéines de la matrice extracellulaire. Au laboratoire, nous utilisons un modèle de fibrose pulmonaire induite par l’instillation intra-trachéale de silice cristalline qui reproduit la formation de granulomes silicotiques caractéristiques (silicose). Grâce à ce modèle nous recherchons les mécanismes par lesquels les réponses immunosuppressives pourraient déclencher l’apparition de fibrose. C’est pourquoi nous nous sommes intéressés aux «Myeloid-Derived Suppressor Cells» (MDSC), une population immunosuppressive (marquée CD11bGR1 chez la souris) provenant de la moelle osseuse et largement décrite en cancérologie. Aucune étude n’a encore été réalisée sur leur implication dans les réponses immunosuppressives et fibrotiques co-existantes chez la souris traitée à la silice. Nos résultats montrent une accumulation pulmonaire importante des MDSC au cours du développement de la silicose chez la souris. Nous avons découvert que les MDSC purifiés des souris silicotiques expriment en particulier de l’ostéopontine, une cytokine connue dans la littérature comme pro-fibrotique et suffisante à la formation de granulomes. Les MDSC purifiés à partir des poumons de souris développant de la silicose (jour 60) ont, de plus, la capacité d’induire la prolifération de fibroblastes pulmonaires in vitro et la formation de granulomes fibrotiques après leur transfert pulmonaire chez des souris saines. Cependant, les cellules purifiées marquées CD11bGR1 semblent aussi induire la formation de granulomes et la prolifération des fibroblastes in vitro. Toutefois, l’effet in vivo est étroitement associé à des teneurs importantes en ostéopontine. Ces résultats suggèrent que les cD11bGR1 (MDSC), les CD11bGR1 et l’ostéopontine ont un rôle important dans la silicose en induisant la prolifération des fibroblastes, l’accumulation de collagène et la formation de granulomes.
Pulmonary Fibrosis --- Immunosuppresive Agents --- Osteopontin --- fibroblast proliferation inhibitor
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Osteopontin --- #ABIB:aeco --- 576.52 --- 577.112.85 --- 576.52 Phenomena at cell surfaces. Cell adhesion. Cell contacts --- Phenomena at cell surfaces. Cell adhesion. Cell contacts --- 577.112.85 Compound and conjugated proteins. Proteids. Phosphoproteins. Glycoproteins. Chromoproteins (metalloproteins) etc. --- Compound and conjugated proteins. Proteids. Phosphoproteins. Glycoproteins. Chromoproteins (metalloproteins) etc. --- Cell adhesion molecules --- Phosphoproteins --- Second messengers (Biochemistry) --- Congresses --- Congresses. --- Sialoglycoproteins
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This e-book summarises the latest advances in the rheumatic diseases with a focus on the recent efforts of vascular and pulmonary manifestations and anticipate the new and future directions of these research topic. Rheumatic diseases represent a heterogeneous group of severe autoimmune disorders. The present Special Issue aims to provide an overview of the complexity of vascular and pulmonary manifestations of rheumatologic diseases and helps in knowledge to manage them. The eleven published articles here collected underline the complexity of rheumatic diseases and the difficult to treated them. The manuscripts provide an overview of the pathophysiology and current treatment regimes of these disorders, highlighting tools which assist with diagnosis, risk stratification and therapy. Finally, we underline the importance of a multidisciplinary team working using the skills of clinicians, radiologists, and pathologists.
Medicine --- Pharmacology --- systemic sclerosis --- scleroderma --- interstitial lung disease --- pulmonary function tests --- high-resolution computed tomography --- rheumatic --- pulmonary arterial hypertension --- targeted therapy --- systemic lupus erythematosus --- airway disease --- shrinking lung syndrome --- diffuse alveolar hemorrhage --- pleurisy --- infection --- cardiopulmonary exercise testing --- osteopontin --- connective tissue diseases --- pulmonary involvement --- microvascular involvement --- nailfold capillaroscopy --- rheumatoid arthritis --- interstitial lung diseases --- CX3CL1/fractalkine --- CX3CR1 --- M1 macrophage --- M2 macrophage --- SKG mice --- heart failure --- 3D-echocardiography --- ventricular function --- outcome --- ventricular-arterial coupling --- antifibrotic agents --- COVID-19 --- IPF --- progressive fibrosing ILD --- UIP --- pharmacological interactions --- fibromyalgia --- gastrointestinal symptoms --- probiotic --- VSL#3® --- efficacy --- tolerability --- polymyalgia rheumatica --- vagus nerve stimulation --- inflammatory response --- PMR --- t-vns
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Major technological advances in genomics have made it possible to identify critical genetic alterations in cancer, rendering oncology well along the path to “personalised cancer medicine”. Thanks to developments in genetics, several mutations and gene rearrangements have been identified in patients with endocrine cancers (e.g., thyroid and adrenocortical carcinoma). In particular, each patient can be considered as a unique, individual one, with unique genetic information. The aim of this Special Issue is to offer an overview of exciting new research in the area of endocrine tumours may set the stage for an innovative personalised management and precision medicine modalities for individualised care.New affordable individual genomic analyses, as well as the opportunity to test new compounds in primary cells may allow a personalised management of patients with endocrine malignancies. This approach may improve the prediction of clinical outcome and therapeutic effectiveness, as well as help to avoid the use of ineffective drugs. However, further efforts are needed to obtain an adjustment of clinical management in patients with endocrine cancers that would rely solely or in great part on genetic information. This Special Issue includes basic, translational, and clinical papers on personalised medicine in endocrine malignancies (i.e., thyroid and adrenal), especially focusing on diagnostic and prognostic biomarkers, as well as novel drug targets or targeted treatments, including eventual clinical trials.
Medicine --- papillary thyroid cancer --- SUV PET/CT --- BRAF V600E --- immune checkpoint inhibitors (ICIs) --- ipilimumab --- nivolumab --- prolactinoma --- Cushing’s disease --- aggressive pituitary tumor --- aggressive PitNET --- aggressive pituitary adenoma --- pituitary carcinoma --- adrenocortical cancer --- adrenal adenomas --- adrenal tumors --- p53 --- p27 --- ki-67 --- reticulin --- mitotane --- adjuvant treatment --- recurrence --- recurrence free survival --- timing --- intratumoral heterogeneity --- thyroid tumor --- BRAF --- RET/PTC rearrangements --- RAS mutation --- adrenal cortex --- carcinoma --- angiogenesis --- gene expression --- osteopontin --- hyaluronan synthase 1 --- multikinase inhibitors --- sorafenib --- lenvatinib --- differentiated thyroid cancer --- radioiodine resistance --- predictive marker --- predictors --- response to treatment --- survival --- information needs and preferences --- focus group interview --- personalized medicine --- neuroendocrine tumours --- phaeochromocytoma --- paraganglioma --- molecular clusters --- n/a --- Cushing's disease
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This e-book summarises the latest advances in the rheumatic diseases with a focus on the recent efforts of vascular and pulmonary manifestations and anticipate the new and future directions of these research topic. Rheumatic diseases represent a heterogeneous group of severe autoimmune disorders. The present Special Issue aims to provide an overview of the complexity of vascular and pulmonary manifestations of rheumatologic diseases and helps in knowledge to manage them. The eleven published articles here collected underline the complexity of rheumatic diseases and the difficult to treated them. The manuscripts provide an overview of the pathophysiology and current treatment regimes of these disorders, highlighting tools which assist with diagnosis, risk stratification and therapy. Finally, we underline the importance of a multidisciplinary team working using the skills of clinicians, radiologists, and pathologists.
systemic sclerosis --- scleroderma --- interstitial lung disease --- pulmonary function tests --- high-resolution computed tomography --- rheumatic --- pulmonary arterial hypertension --- targeted therapy --- systemic lupus erythematosus --- airway disease --- shrinking lung syndrome --- diffuse alveolar hemorrhage --- pleurisy --- infection --- cardiopulmonary exercise testing --- osteopontin --- connective tissue diseases --- pulmonary involvement --- microvascular involvement --- nailfold capillaroscopy --- rheumatoid arthritis --- interstitial lung diseases --- CX3CL1/fractalkine --- CX3CR1 --- M1 macrophage --- M2 macrophage --- SKG mice --- heart failure --- 3D-echocardiography --- ventricular function --- outcome --- ventricular-arterial coupling --- antifibrotic agents --- COVID-19 --- IPF --- progressive fibrosing ILD --- UIP --- pharmacological interactions --- fibromyalgia --- gastrointestinal symptoms --- probiotic --- VSL#3® --- efficacy --- tolerability --- polymyalgia rheumatica --- vagus nerve stimulation --- inflammatory response --- PMR --- t-vns
Choose an application
Major technological advances in genomics have made it possible to identify critical genetic alterations in cancer, rendering oncology well along the path to “personalised cancer medicine”. Thanks to developments in genetics, several mutations and gene rearrangements have been identified in patients with endocrine cancers (e.g., thyroid and adrenocortical carcinoma). In particular, each patient can be considered as a unique, individual one, with unique genetic information. The aim of this Special Issue is to offer an overview of exciting new research in the area of endocrine tumours may set the stage for an innovative personalised management and precision medicine modalities for individualised care.New affordable individual genomic analyses, as well as the opportunity to test new compounds in primary cells may allow a personalised management of patients with endocrine malignancies. This approach may improve the prediction of clinical outcome and therapeutic effectiveness, as well as help to avoid the use of ineffective drugs. However, further efforts are needed to obtain an adjustment of clinical management in patients with endocrine cancers that would rely solely or in great part on genetic information. This Special Issue includes basic, translational, and clinical papers on personalised medicine in endocrine malignancies (i.e., thyroid and adrenal), especially focusing on diagnostic and prognostic biomarkers, as well as novel drug targets or targeted treatments, including eventual clinical trials.
papillary thyroid cancer --- SUV PET/CT --- BRAF V600E --- immune checkpoint inhibitors (ICIs) --- ipilimumab --- nivolumab --- prolactinoma --- Cushing’s disease --- aggressive pituitary tumor --- aggressive PitNET --- aggressive pituitary adenoma --- pituitary carcinoma --- adrenocortical cancer --- adrenal adenomas --- adrenal tumors --- p53 --- p27 --- ki-67 --- reticulin --- mitotane --- adjuvant treatment --- recurrence --- recurrence free survival --- timing --- intratumoral heterogeneity --- thyroid tumor --- BRAF --- RET/PTC rearrangements --- RAS mutation --- adrenal cortex --- carcinoma --- angiogenesis --- gene expression --- osteopontin --- hyaluronan synthase 1 --- multikinase inhibitors --- sorafenib --- lenvatinib --- differentiated thyroid cancer --- radioiodine resistance --- predictive marker --- predictors --- response to treatment --- survival --- information needs and preferences --- focus group interview --- personalized medicine --- neuroendocrine tumours --- phaeochromocytoma --- paraganglioma --- molecular clusters --- n/a --- Cushing's disease
Choose an application
Major technological advances in genomics have made it possible to identify critical genetic alterations in cancer, rendering oncology well along the path to “personalised cancer medicine”. Thanks to developments in genetics, several mutations and gene rearrangements have been identified in patients with endocrine cancers (e.g., thyroid and adrenocortical carcinoma). In particular, each patient can be considered as a unique, individual one, with unique genetic information. The aim of this Special Issue is to offer an overview of exciting new research in the area of endocrine tumours may set the stage for an innovative personalised management and precision medicine modalities for individualised care.New affordable individual genomic analyses, as well as the opportunity to test new compounds in primary cells may allow a personalised management of patients with endocrine malignancies. This approach may improve the prediction of clinical outcome and therapeutic effectiveness, as well as help to avoid the use of ineffective drugs. However, further efforts are needed to obtain an adjustment of clinical management in patients with endocrine cancers that would rely solely or in great part on genetic information. This Special Issue includes basic, translational, and clinical papers on personalised medicine in endocrine malignancies (i.e., thyroid and adrenal), especially focusing on diagnostic and prognostic biomarkers, as well as novel drug targets or targeted treatments, including eventual clinical trials.
Medicine --- papillary thyroid cancer --- SUV PET/CT --- BRAF V600E --- immune checkpoint inhibitors (ICIs) --- ipilimumab --- nivolumab --- prolactinoma --- Cushing's disease --- aggressive pituitary tumor --- aggressive PitNET --- aggressive pituitary adenoma --- pituitary carcinoma --- adrenocortical cancer --- adrenal adenomas --- adrenal tumors --- p53 --- p27 --- ki-67 --- reticulin --- mitotane --- adjuvant treatment --- recurrence --- recurrence free survival --- timing --- intratumoral heterogeneity --- thyroid tumor --- BRAF --- RET/PTC rearrangements --- RAS mutation --- adrenal cortex --- carcinoma --- angiogenesis --- gene expression --- osteopontin --- hyaluronan synthase 1 --- multikinase inhibitors --- sorafenib --- lenvatinib --- differentiated thyroid cancer --- radioiodine resistance --- predictive marker --- predictors --- response to treatment --- survival --- information needs and preferences --- focus group interview --- personalized medicine --- neuroendocrine tumours --- phaeochromocytoma --- paraganglioma --- molecular clusters --- papillary thyroid cancer --- SUV PET/CT --- BRAF V600E --- immune checkpoint inhibitors (ICIs) --- ipilimumab --- nivolumab --- prolactinoma --- Cushing's disease --- aggressive pituitary tumor --- aggressive PitNET --- aggressive pituitary adenoma --- pituitary carcinoma --- adrenocortical cancer --- adrenal adenomas --- adrenal tumors --- p53 --- p27 --- ki-67 --- reticulin --- mitotane --- adjuvant treatment --- recurrence --- recurrence free survival --- timing --- intratumoral heterogeneity --- thyroid tumor --- BRAF --- RET/PTC rearrangements --- RAS mutation --- adrenal cortex --- carcinoma --- angiogenesis --- gene expression --- osteopontin --- hyaluronan synthase 1 --- multikinase inhibitors --- sorafenib --- lenvatinib --- differentiated thyroid cancer --- radioiodine resistance --- predictive marker --- predictors --- response to treatment --- survival --- information needs and preferences --- focus group interview --- personalized medicine --- neuroendocrine tumours --- phaeochromocytoma --- paraganglioma --- molecular clusters
Choose an application
This e-book summarises the latest advances in the rheumatic diseases with a focus on the recent efforts of vascular and pulmonary manifestations and anticipate the new and future directions of these research topic. Rheumatic diseases represent a heterogeneous group of severe autoimmune disorders. The present Special Issue aims to provide an overview of the complexity of vascular and pulmonary manifestations of rheumatologic diseases and helps in knowledge to manage them. The eleven published articles here collected underline the complexity of rheumatic diseases and the difficult to treated them. The manuscripts provide an overview of the pathophysiology and current treatment regimes of these disorders, highlighting tools which assist with diagnosis, risk stratification and therapy. Finally, we underline the importance of a multidisciplinary team working using the skills of clinicians, radiologists, and pathologists.
Medicine --- Pharmacology --- systemic sclerosis --- scleroderma --- interstitial lung disease --- pulmonary function tests --- high-resolution computed tomography --- rheumatic --- pulmonary arterial hypertension --- targeted therapy --- systemic lupus erythematosus --- airway disease --- shrinking lung syndrome --- diffuse alveolar hemorrhage --- pleurisy --- infection --- cardiopulmonary exercise testing --- osteopontin --- connective tissue diseases --- pulmonary involvement --- microvascular involvement --- nailfold capillaroscopy --- rheumatoid arthritis --- interstitial lung diseases --- CX3CL1/fractalkine --- CX3CR1 --- M1 macrophage --- M2 macrophage --- SKG mice --- heart failure --- 3D-echocardiography --- ventricular function --- outcome --- ventricular-arterial coupling --- antifibrotic agents --- COVID-19 --- IPF --- progressive fibrosing ILD --- UIP --- pharmacological interactions --- fibromyalgia --- gastrointestinal symptoms --- probiotic --- VSL#3® --- efficacy --- tolerability --- polymyalgia rheumatica --- vagus nerve stimulation --- inflammatory response --- PMR --- t-vns --- systemic sclerosis --- scleroderma --- interstitial lung disease --- pulmonary function tests --- high-resolution computed tomography --- rheumatic --- pulmonary arterial hypertension --- targeted therapy --- systemic lupus erythematosus --- airway disease --- shrinking lung syndrome --- diffuse alveolar hemorrhage --- pleurisy --- infection --- cardiopulmonary exercise testing --- osteopontin --- connective tissue diseases --- pulmonary involvement --- microvascular involvement --- nailfold capillaroscopy --- rheumatoid arthritis --- interstitial lung diseases --- CX3CL1/fractalkine --- CX3CR1 --- M1 macrophage --- M2 macrophage --- SKG mice --- heart failure --- 3D-echocardiography --- ventricular function --- outcome --- ventricular-arterial coupling --- antifibrotic agents --- COVID-19 --- IPF --- progressive fibrosing ILD --- UIP --- pharmacological interactions --- fibromyalgia --- gastrointestinal symptoms --- probiotic --- VSL#3® --- efficacy --- tolerability --- polymyalgia rheumatica --- vagus nerve stimulation --- inflammatory response --- PMR --- t-vns
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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.
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
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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.
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 --- 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
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