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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/s00401-021-02266-7مصطلحات 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]
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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 Journalمصطلحات 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
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfda54713078b2d84fa25ecc480bef0a
https://doi.org/10.1042/bcj20190513 -
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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]