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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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المساهمون: University of Zurich, Murgia, Marta
المصدر: International Journal of Molecular Sciences, Vol 22, Iss 11080, p 11080 (2021)
International Journal of Molecular Sciences
International journal of molecular sciences 22(20), 11080 (2021). doi:10.3390/ijms222011080 special issue: "Novel Molecular Approaches to Skeletal Muscle Disease and Disuse"
Int. J. Mol. Sci. 22:11080 (2021)
Volume 22
Issue 20مصطلحات موضوعية: Male, Ophthalmoplegia, Chronic Progressive External, skeletal muscle, mtDNA deletions, transcriptomics, proteomics, myopathy, disease models, Muscle Fibers, Skeletal, Respiratory chain, 1607 Spectroscopy, Proteomics, Transcriptome, genetics [Ophthalmoplegia, Chronic Progressive External], Gene Regulatory Networks, Biology (General), Spectroscopy, Laser capture microdissection, General Medicine, genetics [DNA, Mitochondrial], Computer Science Applications, Cell biology, ddc, Succinate Dehydrogenase, Chemistry, Proteome, ddc:540, Female, 1606 Physical and Theoretical Chemistry, Mitochondrial DNA, genetics [Mitochondria, Muscle], 1503 Catalysis, QH301-705.5, pathology [Mitochondria, Muscle], 610 Medicine & health, Laser Capture Microdissection, Biology, genetics [NADPH Dehydrogenase], DNA, Mitochondrial, Catalysis, Article, Inorganic Chemistry, Electron Transport Complex IV, metabolism [Succinate Dehydrogenase], medicine, 1312 Molecular Biology, 1706 Computer Science Applications, Humans, Physical and Theoretical Chemistry, Molecular Biology, QD1-999, metabolism [NADPH Dehydrogenase], 1604 Inorganic Chemistry, metabolism [Electron Transport Complex IV], Gene Expression Profiling, Organic Chemistry, NADPH Dehydrogenase, pathology [Ophthalmoplegia, Chronic Progressive External], medicine.disease, Mitochondria, Muscle, Disease Models, Mtdna Deletions, Myopathy, Skeletal Muscle, Transcriptomics, 10054 Clinic for Psychiatry, Psychotherapy, and Psychosomatics, Translational elongation, pathology [Muscle Fibers, Skeletal], methods [Proteomics], Chronic progressive external ophthalmoplegia, 1605 Organic Chemistry
وصف الملف: application/pdf; application/zip; ijms_22_11080_v2.pdf - application/pdf
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المؤلفون: Arun Pal, Florian Wegner, Jared Sterneckert, Peter Reinhardt, Hannes Glaß, Andreas Hermann, Alexander Storch
المصدر: Molecular and cellular neuroscience 92, 137-148 (2018). doi:10.1016/j.mcn.2018.08.002
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Induced Pluripotent Stem Cells, Vesicular Transport Proteins, Mitochondrion, Biology, Medium spiny neuron, pathology [Mitochondria], metabolism [Lysosomes], 03 medical and health sciences, Cellular and Molecular Neuroscience, genetics [Vesicular Transport Proteins], Downregulation and upregulation, metabolism [Neuroacanthocytosis], metabolism [src-Family Kinases], LYN, medicine, Humans, ddc:610, Molecular Biology, Cells, Cultured, Chorea acanthocytosis, Membrane Potential, Mitochondrial, VPS13A protein, human, Neurodegeneration, Cell Biology, Middle Aged, lyn protein-tyrosine kinase, pathology [Induced Pluripotent Stem Cells], metabolism [Mitochondria], medicine.disease, Actin cytoskeleton, Mitochondria, Cell biology, metabolism [Induced Pluripotent Stem Cells], src-Family Kinases, 030104 developmental biology, genetics [Neuroacanthocytosis], Female, Lysosomes, Neuroacanthocytosis, pathology [Lysosomes], pathology [Neuroacanthocytosis], Signal Transduction, Proto-oncogene tyrosine-protein kinase Src
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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]
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المؤلفون: Arun Pal, Peter Reinhardt, Jared Sterneckert, Alexander Storch, Patrick Neumann, Andreas Hermann, Hannes Glaß
المصدر: International Journal of Molecular Sciences, Vol 21, Iss 5, p 1797 (2020)
International Journal of Molecular Sciences
Volume 21
Issue 5
International journal of molecular sciences 21(5), 1797-(2020). doi:10.3390/ijms21051797مصطلحات موضوعية: Vesicular Transport Proteins, metabolism [Axons], etiology [Motor Neuron Disease], pathology [Mitochondria], metabolism [Lysosomes], lcsh:Chemistry, metabolism [Vesicular Transport Proteins], pathology [Neurons], lcsh:QH301-705.5, Spectroscopy, Cells, Cultured, Chorea acanthocytosis, Neurons, pathology [Axons], Parkinsonism, pathology [Dendrites], human induced pluripotent stem cells (ipsc), General Medicine, Middle Aged, pathology [Induced Pluripotent Stem Cells], Computer Science Applications, Dendritic microtubule, metabolism [Motor Neuron Disease], metabolism [Induced Pluripotent Stem Cells], mitochondria, chorea acanthocytosis (chac), physiopathology [Neuroacanthocytosis], metabolism [Neurons], ddc:540, Female, medicine.symptom, Neuroacanthocytosis, Adult, Cell type, microfluidic chambers (mfcs), pathology [Motor Neuron Disease], organelle trafficking, Induced Pluripotent Stem Cells, motoneurons (mn), Models, Biological, Article, Catalysis, Inorganic Chemistry, lysosomes, genetics [Vesicular Transport Proteins], medicine, Humans, metabolism [Dendrites], Motor Neuron Disease, Physical and Theoretical Chemistry, Molecular Biology, business.industry, Organic Chemistry, Chorea, Dendrites, medicine.disease, metabolism [Mitochondria], Axons, Peripheral neuropathy, Dyskinesia, lcsh:Biology (General), lcsh:QD1-999, Mutation, Axoplasmic transport, business, Neuroscience
وصف الملف: application/pdf
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المؤلفون: Andreas Schober, Ela Karshovska, Isabelle Baatsch, Rokia Mohibullah, Yuanyuan Wei, Nicole Exner, Claudia Geißler, Pallavi Subramanian, Aamoun Popal, Judit Corbalán Campos
المصدر: Arteriosclerosis, thrombosis, and vascular biology 40(3), 583-596 (2020). doi:10.1161/ATVBAHA.119.313290
مصطلحات موضوعية: 0301 basic medicine, Male, Necrosis, Mice, Knockout, ApoE, pathology [Atherosclerosis], genetics [Glycoside Hydrolases], pathology [Mitochondria], 0302 clinical medicine, Adenosine Triphosphate, metabolism [MicroRNAs], Macrophage, metabolism [Atherosclerosis], metabolism [Reactive Oxygen Species], genetics [MicroRNAs], Aorta, Cells, Cultured, chemistry.chemical_classification, metabolism [Inflammation], Cell biology, Mitochondria, Hypoxia-inducible factors, 030220 oncology & carcinogenesis, Necroptosis, medicine.symptom, Cardiology and Cardiovascular Medicine, Signal Transduction, Programmed cell death, Oxidoreductases Acting on CH-CH Group Donors, Glycoside Hydrolases, pathology [Aorta], Inflammation, genetics [Atherosclerosis], Oxidative phosphorylation, genetics [Oxidoreductases Acting on CH-CH Group Donors], genetics [Inflammation], 03 medical and health sciences, genetics [Hypoxia-Inducible Factor 1, alpha Subunit], medicine, Animals, ddc:610, pathology [Inflammation], Reactive oxygen species, metabolism [Oxidoreductases Acting on CH-CH Group Donors], metabolism [Glycoside Hydrolases], Macrophages, metabolism [Hypoxia-Inducible Factor 1, alpha Subunit], deficiency [Hypoxia-Inducible Factor 1, alpha Subunit], metabolism [Mitochondria], Atherosclerosis, Hypoxia-Inducible Factor 1, alpha Subunit, metabolism [Aorta], Mice, Inbred C57BL, Disease Models, Animal, MicroRNAs, 030104 developmental biology, chemistry, Gene Expression Regulation, metabolism [Adenosine Triphosphate], metabolism [Macrophages], Energy Metabolism, Reactive Oxygen Species, pathology [Macrophages]
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4fb446a9070d1fc760c894872cac817e
https://pubmed.ncbi.nlm.nih.gov/31996026 -
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المؤلفون: Dana Dayan, Dajana Grossmann, Jill Bohler, Simone Schimpf-Linzenbold, Sylvie Delcambre, Bernd Wissinger, Rejko Krüger, François Massart, Anne Grünewald, Amit Kessel, Katarina Stingl, Jenny Ghelfi, Ludger Schöls, Reut Ben-Menachem, Abdussalam Azem, Tim M. Strom, Ophry Pines, Marie Anne-Catherine Neumann
المصدر: Scientific reports 10(1), 16736 (2020). doi:10.1038/s41598-020-73557-4
Scientific Reports, Vol 10, Iss 1, Pp 1-15 (2020)
Sci. Rep. 10:16736 (2020)
Scientific Reports
info:eu-repo/grantAgreement/EC/H2020/692320مصطلحات موضوعية: 0301 basic medicine, Male, pathology [Optic Atrophy], lcsh:Medicine, Haploinsufficiency, Biochemistry, biophysics & molecular biology [F05] [Life sciences], medicine.disease_cause, pathology [Mitochondria], genetics [Optic Atrophy], 0302 clinical medicine, metabolism [Aconitate Hydratase], Exome, Biochimie, biophysique & biologie moléculaire [F05] [Sciences du vivant], lcsh:Science, Sequence Deletion, Aconitate Hydratase, Multidisciplinary, ACO2, Hypotonia, Mitochondria, Neurology, Cerebellar atrophy, Female, medicine.symptom, pathology [Fibroblasts], metabolism [Fibroblasts], Mitochondrial DNA, Programmed cell death, genetics [Aconitate Hydratase], Biology, DNA, Mitochondrial, Article, 03 medical and health sciences, Atrophy, Genetics, medicine, Humans, lcsh:R, Optic Nerve, Fibroblasts, medicine.disease, metabolism [Mitochondria], Molecular biology, Optic Atrophy, 030104 developmental biology, metabolism [Optic Atrophy], lcsh:Q, genetics [Mitochondria], pathology [Optic Nerve], ddc:600, 030217 neurology & neurosurgery, Oxidative stress, Neuroscience, metabolism [Optic Nerve]
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ac65a56ebb9891b00c0f4e96fae0214
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المؤلفون: Sigrun Nestel, Silvia De Cicco, Vasiliki Panagiotakopoulou, Cong Yu, David C. Schöndorf, Michela Deleidi, Lukas Kristoffer Schwarz, Ivana Giunta, Oliver Bandmann, Thomas Gasser, Bernd Heimrich, Pascale Baden, Jan Pruszak, Gabriele Di Napoli, Marcus Keatinge, Alexander J. Whitworth, Alvaro Sanchez-Martinez, Dina Ivanyuk
المساهمون: Whitworth, Alex [0000-0002-1154-6629], Apollo - University of Cambridge Repository
المصدر: Cell reports 23(10), 2976-2988 (2018). doi:10.1016/j.celrep.2018.05.009
مصطلحات موضوعية: 0301 basic medicine, Parkinson's disease, pathology [Dopaminergic Neurons], Nicotinamide phosphoribosyltransferase, Pyridinium Compounds, Mitochondrion, nicotinamide-beta-riboside, Mitochondrial Dynamics, pathology [Mitochondria], chemistry.chemical_compound, ultrastructure [Mitochondria], pathology [Neurons], Neurons, metabolism [Dopaminergic Neurons], analogs & derivatives [Niacinamide], Neurodegeneration, neurodegeneration, Parkinson Disease, pathology [Induced Pluripotent Stem Cells], Endoplasmic Reticulum Stress, Mitochondria, 3. Good health, Cell biology, Drosophila melanogaster, metabolism [Neurons], metabolism [NAD], Glucosylceramidase, GBA, physiopathology [Parkinson Disease], metabolism [Niacinamide], Niacinamide, Induced Pluripotent Stem Cells, Motor Activity, Neuroprotection, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, NAD+, Autophagy, medicine, Animals, Humans, ddc:610, metabolism [Glucosylceramidase], lysosomal storage diseases, Dopaminergic Neurons, metabolism [Mitochondria], NAD, medicine.disease, physiology [Drosophila melanogaster], pathology [Parkinson Disease], Disease Models, Animal, 030104 developmental biology, chemistry, Mitochondrial biogenesis, Nicotinamide riboside, Parkinson’s disease, Unfolded Protein Response, NAD+ kinase
وصف الملف: application/pdf
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المؤلفون: Faller, Kiterie M E, Atzler, Dorothee, McAndrew, Debra J, Zervou, Sevasti, Whittington, Hannah J, Simon, Jillian N, Aksentijevic, Dunja, Hove, Michiel Ten, Choe, Chi-Un, Isbrandt, Dirk, Casadei, Barbara, Schneider, Jurgen E, Neubauer, Stefan, Lygate, Craig A
المصدر: Cardiovascular Research
Cardiovascular research 114(3), 417-430 (2017). doi:10.1093/cvr/cvx242
Faller, K M E, Atzler, D, McAndrew, D J, Zervou, S, Whittington, H J, Simon, J N, Aksentijevic, D, Hove, M T, Choe, C-U, Isbrandt, D, Casadei, B, Schneider, J E, Neubauer, S & Lygate, C A 2018, ' Impaired cardiac contractile function in arginine:glycine amidinotransferase knockout mice devoid of creatine is rescued by homoarginine but not creatine ', Cardiovascular Research, vol. 114, no. 3, pp. 417–430 . https://doi.org/10.1093/cvr/cvx242مصطلحات موضوعية: metabolism [Amidinotransferases], Amidinotransferases, Genotype, drug therapy [Ventricular Dysfunction, Left], drug effects [Ventricular Function, Left], pathology [Mitochondria, Heart], Mitochondria, Heart, Ventricular Function, Left, physiopathology [Ventricular Dysfunction, Left], Ventricular Dysfunction, Left, AGAT, glycine amidinotransferase, enzymology [Ventricular Dysfunction, Left], Animals, Cardiac energetics, ddc:610, Creatine kinase, drug effects [Energy Metabolism], drug effects [Body Composition], Mice, Knockout, deficiency [Amidinotransferases], Myocardium, Isolated Heart Preparation, Original Articles, administration & dosage [Creatine], enzymology [Myocardium], Creatine, Homoarginine, Myocardial Contraction, genetics [Ventricular Dysfunction, Left], Mice, Inbred C57BL, Phenotype, drug effects [Myocardial Contraction], drug effects [Mitochondria, Heart], enzymology [Mitochondria, Heart], genetics [Amidinotransferases], Body Composition, administration & dosage [Homoarginine], Contractile function, Energy Metabolism
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::5ade5982fdc47a2fda05b07b4ea7f627
http://europepmc.org/articles/PMC5982714 -
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المؤلفون: Ashraf Al-Amoudi, Christoph Thiele, Frank Bradke, Anne Gaebler, Christian Lamberz, Andrea Tedeschi, Thorsten Hornemann, Irina Alecu, Klaus Wunderling, Mario A. Lauterbach, Alaa Othman, Paul P. Van Veldhoven, Anke Penno, Lars Kuerschner, Eicke Latz, Natascha Behler, Daniela Ernst
المساهمون: University of Zurich, Penno, Anke
المصدر: Journal of Lipid Research, Vol 58, Iss 1, Pp 42-59 (2017)
Journal of lipid research 58(1), 42-59 (2016). doi:10.1194/jlr.M068676مصطلحات موضوعية: Male, 0301 basic medicine, 1303 Biochemistry, Diabetic neuropathy, blood [Diabetes Mellitus, Type 2], pathology [Peripheral Nerves], neurons, Mitochondrion, Biochemistry, pathology [Mitochondria], metabolism [Peripheral Nerves], 1307 Cell Biology, Endocrinology, Diabetic Neuropathies, 540 Chemistry, Hereditary sensory and autonomic neuropathy, blood [Lipids], Hereditary Sensory and Autonomic Neuropathies, Research Articles, 10038 Institute of Clinical Chemistry, pharmacology [Sphingolipids], diabetes, Chemistry, lipids/chemistry, drug effects [Mitochondria], blood [Sphingolipids], pathology [Diabetic Neuropathies], Lipids, Mitochondria, 1310 Endocrinology, 3. Good health, Mitochondrial toxicity, ddc:540, Oxidoreductases, metabolism [Oxidoreductases], medicine.medical_specialty, pathology [Hereditary Sensory and Autonomic Neuropathies], pathology [Diabetes Mellitus, Type 2], 610 Medicine & health, inborn errors of metabolism, QD415-436, 03 medical and health sciences, Internal medicine, medicine, Animals, Humans, Peripheral Nerves, Sphingolipids, sphingolipids, blood [Hereditary Sensory and Autonomic Neuropathies], Neurotoxicity, Cell Biology, Metabolism, metabolism [Mitochondria], medicine.disease, Sphingolipid, chemical synthesis [Sphingolipids], 030104 developmental biology, Peripheral neuropathy, Diabetes Mellitus, Type 2, dihydroceramide desaturase, blood [Diabetic Neuropathies], chemical synthesis
وصف الملف: Print-Electronic; application/pdf; 42full.pdf - application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe1f4d8a40b8aec71587cce2db32ed84
https://doi.org/10.1194/jlr.m068676
Find this article in full text from Springer Verlag.