المؤلفون: Mona Essawi, Ekram Fateen, Hanan Abd Elmawgoud Atia, Noura R. Eissa, Eman H. Aboul-Ezz, Mona Ibrahim, Heba Hassan, Samia A. Temtamy

مصطلحات موضوعية: Lysosomal Storage Disorders in Human Health and Disease, Physiology, FOS Biological sciences, Medicine, Health Sciences, Lysosomal Calcium Signaling in Physiology and Pathology, Biochemistry, Genetics and Molecular Biology, Life Sciences, Mechanisms of Intracellular Membrane Trafficking, Cell Biology, Lysosomal Storage Disorders, Lysosomal Storage Diseases, Mucolipidosis Type IV, Mucolipidosis, Exon, Mutation, Genetics, Compound heterozygosity, Lysosomal storage disease, Gene mutation, Frameshift mutation, Molecular biology, Biology, Gene, Point mutation, Enzyme, Biochemistry

العلاقة: https://dx.doi.org/10.60692/3jjxr-vmy91Test

الإتاحة: https://doi.org/10.60692/w1ndw-27q9810.60692/3jjxr-vmy91Test

المؤلفون: Atanassoff, Alexander P.¹, Wolfmeier, Heidi¹, Schoenauer, Roman¹, Hostettler, Andrea¹, Ring, Avi², Draeger, Annette¹ edik@ana.unibe.ch, Babiychuk, Eduard B.¹

المصدر: PLoS ONE. Feb2014, Vol. 9 Issue 2, p1-11. 11p.

مصطلحات موضوعية: *VESICLES (Cytology), *LYSOSOMAL storage diseases, *STREPTOLYSIN, *CELL membranes, *CELL physiology, *TOXICOLOGY

المؤلفون: Malte Lenders, Eva Brand

المصدر: Drugs

مصطلحات موضوعية: Oncology, Male, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Cardiomyopathy, Globotriaosylceramide, Review Article, chemistry.chemical_compound, Pharmacotherapy, Risk Factors, Internal medicine, medicine, Humans, Pharmacology (medical), Clinical significance, Enzyme Replacement Therapy, chemistry.chemical_classification, biology, business.industry, Trihexosylceramides, Cardiac arrhythmia, nutritional and metabolic diseases, medicine.disease, Fabry disease, Antibodies, Neutralizing, Recombinant Proteins, Injection Site Reaction, Isoenzymes, Lysosomal Storage Diseases, Enzyme, chemistry, alpha-Galactosidase, Antibody Formation, biology.protein, Fabry Disease, Antibody, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c352c03593c70b37556dbc3d2076c00Test
http://europepmc.org/articles/PMC8602155Test

المؤلفون: Daniel Erskine, David J. Koss, Johannes Attems, Viktor I. Korolchuk, Ian G. McKeith, Tiago F. Outeiro

المصدر: Acta Neuropathologica
Acta neuropathologica 141(4), 511-526 (2021). doi:10.1007/s00401-021-02266-7

مصطلحات موضوعية: Mitochondrial Diseases, Context (language use), Disease, Review, Biology, Mitochondrion, pathology [Mitochondria], Pathology and Forensic Medicine, metabolism [Lysosomes], Alpha-synuclein, Cellular and Molecular Neuroscience, chemistry.chemical_compound, medicine, Autophagy, Dementia, Humans, ddc:610, metabolism [alpha-Synuclein], pathology [Lysosomal Storage Diseases], Synucleinopathies, pathology [Lewy Bodies], Lewy body, Catabolism, pathology [Hemochromatosis], metabolism [Lewy Bodies], metabolism [Mitochondria], medicine.disease, Lipid Metabolism, Cell biology, Mitochondria, Lysosomal Storage Diseases, metabolism [Lysosomal Storage Diseases], pathology [Mitochondrial Diseases], Lipid metabolism, chemistry, metabolism [Mitochondrial Diseases], Lewy Bodies, Neurology (clinical), Hemochromatosis, physiology [Lipid Metabolism], Lysosomes, metabolism [Hemochromatosis], pathology [Lysosomes]

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43306bec4e1cde40566d68af6e3b9796Test
http://europepmc.org/articles/PMC7952289Test

المؤلفون: Anja U. Bräuer, Maria Vittoria Cubellis, Georg Fuellen, Jan Lukas, Anne-Katrin Giese, Arndt Rolfs, Mathias Ernst, Giuseppina Andreotti, Stephan Struckmann, Andreas Hermann, Linda Rebecca Haake, Anne-Marie Knospe, Claudia Cozma, Valentina Citro, Susanne Seemann, Chiara Cimmaruta, Dirk Koczan

المساهمون: Seemann, S., Ernst, M., Cimmaruta, C., Struckmann, S., Cozma, C., Koczan, D., Knospe, A. -M., Haake, L. R., Citro, V., Brauer, A. U., Andreotti, G., Cubellis, M. V., Fuellen, G., Hermann, A., Giese, A. -K., Rolfs, A., Lukas, J.

المصدر: Biochemical journal (Online) (2020). doi:10.1042/BCJ20190513
info:cnr-pdr/source/autori:Susanne Seemann ; Mathias Ernst ; Chiara Cimmaruta ; Stephan Struckmann ; Claudia Cozma ; Dirk Koczan ; Anne-Marie Knospe ; Linda R Haake ; Valentina Citro ; Anja U Bräuer ; Giuseppina Andreotti ; Maria V Cubellis ; Georg Fuellen ; Andreas Hermann ; Anne-Katrin Giese ; Arndt Rolfs ; Jan Lukas/titolo:Proteostasis regulators modulate proteasomal activity and gene expression to attenuate multiple phenotypesin Fabry disease/doi:10.1042%2FBCJ20190513/rivista:Biochemical journal (Online)/anno:2020/pagina_da:/pagina_a:/intervallo_pagine:/volume
The biochemical journal / Reviews 477(2), 359-380 (2020). doi:10.1042/BCJ20190513
Biochemical Journal

مصطلحات موضوعية: lysosomal enzyme, genetics [Proteasome Endopeptidase Complex], Endoplasmic Reticulum, Biochemistry, genetics [Lysosomes], Molecular Bases of Health & Disease, metabolism [Lysosomes], transcriptomics, Lysosomal Storage Disease, genetics [alpha-Galactosidase], 0302 clinical medicine, metabolism [Endoplasmic Reticulum], Sphingosine, Gene expression, protein misfolding, Proteostasi, Research Articles, 0303 health sciences, therapeutic use [1-Deoxynojirimycin], biology, Pharmacology & Toxicology, genetics [Lysosomal Storage Diseases], Lysosome, Cell biology, genetics [Proteostasis], Protein Transport, drug effects [Protein Transport], 030220 oncology & carcinogenesis, ddc:540, Fibroblast, Translational Science, metabolism [Sphingosine], metabolism [Fibroblasts], Human, metabolism [Biomarkers], medicine.drug, drug therapy [Fabry Disease], Proteasome Endopeptidase Complex, 1-Deoxynojirimycin, enzymology [Fabry Disease], drug therapy [Lysosomal Storage Diseases], genetics [Mutation, Missense], Mutation, Missense, analogs & derivatives [Sphingosine], migalastat, enzymology [Lysosomes], Context (language use), Gene Expression Regulation, Enzymologic, 03 medical and health sciences, medicine, Humans, globotriaosylsphingosine, metabolism [Proteasome Endopeptidase Complex], pathology [Lysosomal Storage Diseases], Molecular Biology, drug effects [Gene Expression Regulation, Enzymologic], 030304 developmental biology, drug effects [Fibroblasts], genetics [Fabry Disease], Alpha-galactosidase, enzymology [Lysosomal Storage Diseases], proteasome inhibitor, Endoplasmic reticulum, transcriptomic, Biomarker, analogs & derivatives [1-Deoxynojirimycin], Cell Biology, Fibroblasts, medicine.disease, Therapeutics & Molecular Medicine, Fabry disease, Lysosomal Storage Diseases, Metabolism, Proteostasis, Proteasome, alpha-Galactosidase, Proteasome inhibitor, biology.protein, Fabry Disease, Lysosomes, genetics [Endoplasmic Reticulum], pathology [Fabry Disease], Biomarkers

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfda54713078b2d84fa25ecc480bef0aTest
https://doi.org/10.1042/bcj20190513Test

المؤلفون: Markus Damme, Torben Lübke

المصدر: Biochemical Journal. 477:3963-3983

مصطلحات موضوعية: Glycine, Endoplasmic Reticulum, Biochemistry, 03 medical and health sciences, 0302 clinical medicine, Sulfation, Catalytic Domain, Lysosomal storage disease, medicine, Animals, Humans, Molecular Biology, Phylogeny, 030304 developmental biology, chemistry.chemical_classification, 0303 health sciences, biology, Chemistry, Endoplasmic reticulum, Sulfatase, Cell Biology, Arylsulfatases, medicine.disease, Lysosomal Storage Diseases, Metachromatic leukodystrophy, Disease Models, Animal, Enzyme, biology.protein, Sulfatases, Lysosomes, Protein Processing, Post-Translational, Arylsulfatase, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6319b31f451676c9293290f32f815481Test
https://doi.org/10.1042/bcj20200586Test

المؤلفون: Shifra Ben-Dor, Anthony H. Futerman, Soo Min Cho, Ulrich Kalinke, Ayelet Vardi, Julia Spanier

المساهمون: TWINCORE, Zentrum für experimentelle und klinische Infektionsforschung GmbH,Feodor-Lynen Str. 7, 30625 Hannover, Germany.

المصدر: Journal of Neuroinflammation, Vol 17, Iss 1, Pp 1-13 (2020)
Journal of Neuroinflammation
Journal of neuroinflammation
England

مصطلحات موضوعية: 0301 basic medicine, Chemokine, Pathogen recognition receptors, Immunology, Gaucher disease, Type 1 interferon, lcsh:RC346-429, Mice, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Interferon, hemic and lymphatic diseases, Lysosomal storage diseases, medicine, Animals, Receptor, Neuroinflammation, lcsh:Neurology. Diseases of the nervous system, Mice, Knockout, Neurons, Innate immune system, biology, Microglia, Research, General Neuroscience, Neurodegenerative diseases, Sphingolipid, Disease Models, Animal, 030104 developmental biology, medicine.anatomical_structure, Lipid metabolism, Neurology, Interferon Type I, Cancer research, biology.protein, Glucosylceramidase, Tumor necrosis factor alpha, 030217 neurology & neurosurgery, Signal Transduction, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38ba497013484225939efc07c4580b25Test
http://link.springer.com/article/10.1186/s12974-020-01934-xTest

المؤلفون: Nico Mitro, Matteo Audano, Anja Schneider

المصدر: Journal of neurochemistry 147(3), 291-309 (2018). doi:10.1111/jnc.14471

مصطلحات موضوعية: 0301 basic medicine, Mitochondrial Diseases, Cell, Context (language use), Mitochondrion, Biology, Biochemistry, pathology [Mitochondria], 03 medical and health sciences, Cellular and Molecular Neuroscience, Lysosome, Organelle, medicine, Animals, Humans, ddc:610, pathology [Lysosomal Storage Diseases], Neurodegeneration, Autophagy, pathology [Neurodegenerative Diseases], Neurodegenerative Diseases, medicine.disease, Mitochondria, Cell biology, Lysosomal Storage Diseases, pathology [Mitochondrial Diseases], 030104 developmental biology, medicine.anatomical_structure, Lysosomes, Homeostasis, pathology [Lysosomes]

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09eaaf5adbfe555b3f5cc63df6f95bc7Test
https://doi.org/10.1111/jnc.14471Test

المؤلفون: Qiaoyun Song, Haidong Xu, Zixu Mao, Bo Meng

المصدر: Translational Neurodegeneration, Vol 9, Iss 1, Pp 1-14 (2020)
Translational Neurodegeneration

مصطلحات موضوعية: 0301 basic medicine, Vacuolar Proton-Translocating ATPases, Cognitive Neuroscience, ATPase, Endocytic cycle, Review, mTORC1, lcsh:RC346-429, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Proton transport, Lysosome, medicine, Autophagy, Humans, Vacuolar-type ATPase, Neurodegeneration, lcsh:Neurology. Diseases of the nervous system, biology, Chemistry, Lysosomal acidification, Neurodegenerative Diseases, Hydrogen-Ion Concentration, medicine.disease, Cell biology, Lysosomal Storage Diseases, 030104 developmental biology, medicine.anatomical_structure, Lysosomal lumen, Vacuoles, biology.protein, Neurology (clinical), Lysosomes, 030217 neurology & neurosurgery, Intracellular

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::659eefa887d67e5c11ffc2b49a3a56b8Test
http://link.springer.com/article/10.1186/s40035-020-00196-0Test

المؤلفون: Ilpo Vattulainen, Lauri Vanharanta, Johan Peränen, Elina Ikonen, Simon G. Pfisterer, Giray Enkavi

المساهمون: Medicum, Department of Anatomy, Faculty of Medicine, STEMM - Stem Cells and Metabolism Research Program, Research Programs Unit, Institute of Biotechnology, Biosciences, University of Helsinki, Materials Physics, Department of Physics, Lipid Trafficking Lab, Tampere University, Physics, Research group: Biological Physics and Soft Matter

المصدر: Traffic. 21:386-397

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, lipid droplets, late endosomes, Locus (genetics), Molecular Dynamics Simulation, Biology, 114 Physical sciences, gene variants, Biochemistry, 03 medical and health sciences, 0302 clinical medicine, Niemann-Pick C1 Protein, Structural Biology, cholesterol transport, hemic and lymphatic diseases, Lipid droplet, Complementary DNA, Genetics, Niemann-Pick C1, Humans, CRISPR, lysosomal storage diseases, Molecular Biology, Gene, 030304 developmental biology, chemistry.chemical_classification, 0303 health sciences, Intracellular Signaling Peptides and Proteins, Proteins, nutritional and metabolic diseases, Biological Transport, 217 Medical engineering, Cell Biology, Amino acid, Cell biology, Cholesterol, chemistry, GenBank, 1182 Biochemistry, cell and molecular biology, lipids (amino acids, peptides, and proteins), 3111 Biomedicine, NPC1, Lysosomes, 030217 neurology & neurosurgery

وصف الملف: fulltext

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2c675b177418f83eb4098471021c532Test
https://doi.org/10.1111/tra.12727Test