Suchergebnisse - "Neurodegenerative Diseases/genetics"

Type A monoamine oxidase; its unique role in mood, behavior and neurodegeneration

Autoren: Makoto Naoi Wakako Maruyama Masayo Shamoto-Nagai et al.

Quelle: Journal of Neural Transmission. 132:387-406

Schlagwörter: Brain, Neurodegenerative Diseases, Environment, Gene, Monoamine Oxidase/metabolism, Type A monoamine oxidase, Affect, Affect/physiology, Neurodegenerative Diseases/genetics, Brain/metabolism, Humans, Animals, Epigenetics, Neuropsychiatric diseases, Transcription, Monoamine Oxidase

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/39621110

Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals

Autoren: Dana E. Layo-Carris Emily E. Lubin Annabel K. Sangree et al.

Weitere Verfasser: Dana E. Layo-Carris Emily E. Lubin Annabel K. Sangree et al.

Quelle: Eur J Hum Genet
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
European journal of human genetics
Layo-Carris, Dana E; Lubin, Emily E; Sangree, Annabel K; Clark, Kelly J; Durham, Emily L; Gonzalez, Elizabeth M; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Solà, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; Steel, Dora; ... (2024). Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European journal of human genetics, 32(8), pp. 928-937. Springer Nature 10.1038/s41431-024-01610-1 <http://dx.doi.org/10.1038/s41431-024-01610-1>

Schlagwörter: Male, 0301 basic medicine, PSIQUIATRÍA Y PSICOLOGÍA::trastornos mentales::trastornos del desarrollo neurológico, Intellectual disability, Gene, Histones, Genetic heterogeneity, FENÓMENOS Y PROCESOS::fenómenos genéticos::fenotipo, PHENOMENA AND PROCESSES::Genetic Phenomena::Phenotype, Genetics(clinical), Missense mutation, Child, 0303 health sciences, Life Sciences, Neurodegenerative Diseases, 16. Peace & justice, Genomic Rearrangements and Copy Number Variations, 3. Good health, Fenotip, Chemistry, Phenotype, Child, Preschool, Molecular Basis of Rett Syndrome and Related Disorders, Female, Epigenetics, Trastorns del desenvolupament - Aspectes genètics, Adult, Adolescent, 610 Medicine & health, Hypotonia, Adolescent [MeSH], Female [MeSH], Adult [MeSH], Histones/genetics [MeSH], Humans [MeSH], Neurodevelopmental Disorders/pathology [MeSH], Intellectual Disability/genetics [MeSH], 631/208/1516, Neurodegenerative Diseases/pathology [MeSH], Neurodevelopmental Disorders/genetics [MeSH], Neurodegenerative Diseases/genetics [MeSH], Intellectual Disability/pathology [MeSH], 631/208/366, Article, Male [MeSH], Phenotype [MeSH], Child [MeSH], article, Child, Preschool [MeSH], 03 medical and health sciences, Neurodevelopmental disorder, Intellectual Disability, Biochemistry, Genetics and Molecular Biology, Journal Article, Genetics, DISEASES::Pathological Conditions, Signs and Symptoms::Signs and Symptoms::Neurologic Manifestations::Neurobehavioral Manifestations::Intellectual Disability, ENFERMEDADES::afecciones patológicas, signos y síntomas::signos y síntomas::manifestaciones neurológicas::manifestaciones neuroconductuales::discapacidad intelectual, Humans, Discapacitat intel·lectual, Biology, Brain Development, Standards and Guidelines for Genetic Variant Interpretation, Neurodevelopmental Disorders, FOS: Biological sciences, Human medicine, PSYCHIATRY AND PSYCHOLOGY::Mental Disorders::Neurodevelopmental Disorders

Dateibeschreibung: application/pdf

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/38678163
https://hdl.handle.net/11351/11842
https://dspace.library.uu.nl/handle/1874/454819
https://hdl.handle.net/1887/4210177
https://hdl.handle.net/10067/2058020151162165141
https://repository.uantwerpen.be/docstore/d:irua:23508
https://boris.unibe.ch/196319/
https://repository.publisso.de/resource/frl:6492310
https://discovery-pp.ucl.ac.uk/id/eprint/10191954/

Formation of memory assemblies through the DNA-sensing TLR9 pathway

Autoren: Vladimir Jovasevic Elizabeth M. Wood Ana Cicvaric et al.

Weitere Verfasser: Vladimir Jovasevic Elizabeth M. Wood Ana Cicvaric et al.

Quelle: Nature
Nature 628(8006), 145-153 (2024). doi:10.1038/s41586-024-07220-7
Jovasevic, V, Wood, E M, Cicvaric, A, Zhang, H, Petrovic, Z, Carboncino, A, Parker, K K, Bassett, T E, Moltesen, M, Yamawaki, N, Login, H, Kalucka, J, Sananbenesi, F, Zhang, X, Fischer, A & Radulovic, J 2024, 'Formation of memory assemblies through the DNA-sensing TLR9 pathway', Nature, vol. 628, no. 8006, pp. 145-153. https://doi.org/10.1038/s41586-024-07220-7

Schlagwörter: Male, Aging, metabolism [Histones], DNA Repair, Conditioning, Classical, Histones/metabolism, Neurons/metabolism, Cognitive Dysfunction/genetics, genetics [Mental Disorders], Memory/physiology, Histones, Nuclear Envelope/pathology, Mice, pathology [Aging], immunology [Inflammation], metabolism [Centrosome], Inflammation/genetics, Aging/genetics, CA1 Region, Hippocampal/physiology, Neurodegenerative Diseases/genetics, pathology [Neurons], DNA Breaks, Double-Stranded, immunology [Toll-Like Receptor 9], metabolism [Inflammation], Mental Disorders, deficiency [Toll-Like Receptor 9], Neurodegenerative Diseases, Fear, metabolism [Toll-Like Receptor 9], Extracellular Matrix, 3. Good health, metabolism [Neurons], genetics [Aging], Female, ddc:500, genetics [Toll-Like Receptor 9], metabolism [Extracellular Matrix], Article, Genomic Instability, Tlr9 protein, mouse, genetics [Inflammation], Memory, Animals, Cognitive Dysfunction, genetics [Genomic Instability], physiology [Memory], CA1 Region, Hippocampal, Toll-Like Receptor 9/deficiency, pathology [Inflammation], Mental Disorders/genetics, Centrosome, Inflammation, physiology [CA1 Region, Hippocampal], genetics [Neuroinflammatory Diseases], genetics [Cognitive Dysfunction], Neuroinflammatory Diseases/genetics, Extracellular Matrix/metabolism, pathology [Nuclear Envelope], Centrosome/metabolism, genetics [Neurodegenerative Diseases], Toll-Like Receptor 9, Neuroinflammatory Diseases, Genomic Instability/genetics

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/38538785
https://pub.dzne.de/record/268840
https://resolver.sub.uni-goettingen.de/purl?gro-2/142539

Elevated genetic risk for multiple sclerosis emerged in steppe pastoralist populations

Autoren: Barrie, W Yang, Y Irving-Pease, EK et al.

Weitere Verfasser: Barrie, W Yang, Y Irving-Pease, EK et al.

Quelle: Nature
Barrie, W, Yang, Y, Irving-Pease, E K, Attfield, K E, Scorrano, G, Jensen, L T, Armen, A P, Dimopoulos, E A, Stern, A, Refoyo-Martinez, A, Pearson, A, Ramsøe, A, Gaunitz, C, Demeter, F, Jørkov, M L S, Møller, S B, Springborg, B, Klassen, L, Hyldgård, I M, Wickmann, N, Vinner, L, Korneliussen, T S, Allentoft, M E, Sikora, M, Kristiansen, K, Rodriguez, S, Nielsen, R, Iversen, A K N, Lawson, D J, Fugger, L & Willerslev, E 2024, ' Elevated genetic risk for multiple sclerosis emerged in steppe pastoralist populations ', Nature, vol. 625, no. 7994, pp. 321-328 . https://doi.org/10.1038/s41586-023-06618-z
Nature, vol 625, iss 7994
Barrie, W, Yang, Y, Irving-Pease, E K, Attfield, K E, Scorrano, G, Jensen, L T, Armen, A P, Dimopoulos, E A, Stern, A, Refoyo-Martinez, A, Pearson, A, Ramsøe, A, Gaunitz, C, Demeter, F, Jørkov, M L S, Møller, S B, Springborg, B, Klassen, L, Hyldgård, I M, Wickmann, N, Vinner, L, Korneliussen, T S, Allentoft, M E, Sikora, M, Kristiansen, K, Rodriguez, S, Nielsen, R, Iversen, A K N, Lawson, D J, Fugger, L & Willerslev, E 2024, 'Elevated genetic risk for multiple sclerosis emerged in steppe pastoralist populations', Nature, vol. 625, pp. 321-328. https://doi.org/10.1038/s41586-023-06618-z

Schlagwörter: History, Genetic Predisposition to Disease/history, Datasets as Topic, Neurodegenerative, Neurodegenerative Diseases/genetics, Historical Studies, 2.1 Biological and endogenous factors, Cluster Analysis, History, Ancient, History, 15th Century, Life Style/ethnology, Genome, Settore BIOS-03/B - Antropologia, Neurodegenerative Diseases, Biological Sciences, Grassland, 3. Good health, Europe, Archaeology, Child, Preschool, Neurological, Medieval, Human, Multiple Sclerosis, General Science & Technology, Genetics, Medical, Human Migration, Settore BIO/08, Autoimmune Disease, Europe/ethnology, Article, Ancient, Medical, Genetics, Humans, Genetic Predisposition to Disease, Genetic Testing, Heritage and Archaeology, Diet/ethnology, Life Style, Population Density, Genome, Human, Prevention, Inflammatory and immune system, Human Genome, Neurosciences, Human Migration/history, History, Medieval, Brain Disorders, Diet, 15th Century, Multiple Sclerosis/genetics

Dateibeschreibung: application/pdf; application/zip; text/xml

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/38200296
https://curis.ku.dk/ws/files/380204734/s41586_023_06618_z.pdf
https://www.repository.cam.ac.uk/handle/1810/364300
https://doi.org/10.1038/s41586-023-06618-z
https://escholarship.org/uc/item/5jh0d97q
https://escholarship.org/content/qt5jh0d97q/qt5jh0d97q.pdf

Evaluating metabolome-wide causal effects on risk for psychiatric and neurodegenerative disorders

Autoren: Gilchrist, Lachlan Mutz, Julian Hysi, Pirro et al.

Quelle: Gilchrist, L, Mutz, J, Hysi, P, Legido-Quigley, C, Kõks, S, Lewis, C M & Proitsi, P 2025, 'Evaluating metabolome-wide causal effects on risk for psychiatric and neurodegenerative disorders', BMC Medicine, vol. 23, no. 1, 326. https://doi.org/10.1186/s12916-025-04129-4

Schlagwörter: Humans, Neurodegenerative Diseases/genetics, Mendelian Randomization Analysis, Metabolome, Mental Disorders/genetics, Bayes Theorem, Risk Factors

Dateibeschreibung: application/pdf

Verfügbarkeit: https://kclpure.kcl.ac.uk/portal/en/publications/2ba5c988-2ef6-435d-8f50-b48e85c3be86
https://doi.org/10.1186/s12916-025-04129-4
https://kclpure.kcl.ac.uk/ws/files/340500024/s12916-025-04129-4.pdf
http://www.scopus.com/inward/record.url?scp=105006996661&partnerID=8YFLogxK

Evaluating metabolome-wide causal effects on risk for psychiatric and neurodegenerative disorders

Autoren: Lachlan Gilchrist Julian Mutz Pirro Hysi et al.

Quelle: BMC Med
BMC Medicine, Vol 23, Iss 1, Pp 1-19 (2025)
Gilchrist, L, Mutz, J, Hysi, P, Legido-Quigley, C, Kõks, S, Lewis, C M & Proitsi, P 2025, 'Evaluating metabolome-wide causal effects on risk for psychiatric and neurodegenerative disorders', BMC Medicine, vol. 23, no. 1, 326. https://doi.org/10.1186/s12916-025-04129-4

Schlagwörter: Mental Disorders/genetics, Psychiatry, Colocalisation, Research, Bayes Theorem, Mendelian Randomization Analysis, Neurodegenerative disease, Risk Factors, Metabolome, Genetics, Humans, Neurodegenerative Diseases/genetics, Metabolomics, Medicine, Mendelian randomisation

Dateibeschreibung: application/pdf

Zugangs-URL: https://doaj.org/article/8cb1593d354f485985d32c00c14eb7d4
https://kclpure.kcl.ac.uk/portal/en/publications/2ba5c988-2ef6-435d-8f50-b48e85c3be86

Single-Cell Sequencing in Neurodegenerative Disorders

Autoren: Jelena Pozojevic Malte Spielmann

Quelle: Mol Diagn Ther

Schlagwörter: Huntington Disease, Multiple Sclerosis, Medical and Health Sciences, Brain/metabolism [MeSH], Multiple Sclerosis [MeSH], Humans [MeSH], Neurodegenerative Diseases/diagnosis [MeSH], Huntington Disease [MeSH], Biological Sciences, Leading Article, Neurodegenerative Diseases/genetics [MeSH], Humans, Brain, Neurodegenerative Diseases, 3. Good health

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/37552451
https://repository.publisso.de/resource/frl:6486687

The NR4A2/VGF pathway fuels inflammation-induced neurodegeneration via promoting neuronal glycolysis

Autoren: Woo, Marcel S Bal, Lukas C Winschel, Ingo et al.

Quelle: J Clin Invest

Schlagwörter: Male, Multiple Sclerosis, Nuclear Receptor Subfamily 4, Group A, Member 2 / genetics, Neurodegenerative Diseases / metabolism, Inflammation / metabolism, Multiple Sclerosis / pathology, 616.07, Inflammation / genetics, Inflammation / pathology, Multiple sclerosis, Neurodegenerative Diseases / genetics, Mice, Neurons / pathology, Neurodegenerative Diseases / pathology, Nuclear Receptor Subfamily 4, Group A, Member 2, Animals, Humans, Neurodegeneration, Neurons, Inflammation, Mice, Knockout, Neurons / metabolism, Neurodegenerative Diseases, Multiple Sclerosis / metabolism, Multiple Sclerosis / genetics, Glycolysis, Neuroscience, Nuclear Receptor Subfamily 4, Group A, Member 2 / metabolism, Research Article, Signal Transduction

Dateibeschreibung: application/pdf

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/39145444
https://hdl.handle.net/11584/412263
https://doi.org/10.1172/JCI177692

De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus

Autoren: Galosi, S. Edani, B.H. Martinelli, S. et al.

Weitere Verfasser: Galosi, S. Edani, B.H. Martinelli, S. et al.

Quelle: Brain, 145, 1, pp. 208-223
Brain, vol. 145, no. 1, pp. 208-223

Schlagwörter: Myoclonus, Clinical Neurology, congenital disorders of glycosylation, dolichol, movement disorder, myoclonus epilepsy, neurodegenerative disorder, DHDDS, Settore MED/04 - PATOLOGIA GENERALE, Dolichols, Journal Article, Alkyl and Aryl Transferases, Child, Dolichols/metabolism, Humans, Neurodegenerative Diseases/genetics, Retinitis Pigmentosa/genetics, PROTEIN GLYCOSYLATION, MUTATION, NOGO-B RECEPTOR, CIS-PRENYLTRANSFERASE, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience, Neurology - Radboud University Medical Center, Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience, LOCALIZATION, Neurodegenerative Diseases, Settore MEDS-02/A - Patologia generale, OLIGOSACCHARIDES, INSIGHTS, Laboratory Medicine - Radboud University Medical Center, DOLICHOL, Human Genetics - Radboud University Medical Center, LIQUID-CHROMATOGRAPHY, Retinitis Pigmentosa, GENETIC-DEFECTS

Dateibeschreibung: application/pdf

Zugangs-URL: https://iris.unito.it/bitstream/2318/1808625/1/DHDDS%20post%20print.pdf
https://pubmed.ncbi.nlm.nih.gov/34382076
https://research.rug.nl/en/publications/50de5bd9-24f7-4573-b0f2-fed69db9588d
https://hdl.handle.net/11370/50de5bd9-24f7-4573-b0f2-fed69db9588d
https://doi.org/10.1093/brain/awab299
https://iris.unito.it/handle/2318/1808625
https://www.ncbi.nlm.nih.gov/pubmed/34382076
https://portal.research.lu.se/sv/publications/de-novo-dhdds-variants-cause-a-neurodevelopmental-and-neurodegene
https://pubmed.ncbi.nlm.nih.gov/34382076/
https://dspace.library.uu.nl/handle/1874/443417
https://repository.ubn.ru.nl//bitstream/handle/2066/248776/248776.pdf
https://hdl.handle.net/2066/248776
https://serval.unil.ch/resource/serval:BIB_49C7D80FE3EC.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_49C7D80FE3EC1
https://serval.unil.ch/notice/serval:BIB_49C7D80FE3EC
https://hdl.handle.net/11573/1621666
https://doi.org/10.1093/brain/awab299
https://hdl.handle.net/2318/1808625
https://doi.org/10.1093/brain/awab299
https://academic.oup.com/brain/advance-article-abstract/doi/10.1093/brain/awab299/6348168?redirectedFrom=fulltext

Translocator protein is a marker of activated microglia in rodent models but not human neurodegenerative diseases

Autoren: Nutma, Erik Fancy, Nurun Weinert, Maria et al.

Weitere Verfasser: Nutma, Erik Fancy, Nurun Weinert, Maria et al.

Quelle: Nat Commun
Nature Communications, Vol 14, Iss 1, Pp 1-25 (2023)
Nutma, E, Fancy, N, Weinert, M, Tsartsalis, S, Marzin, M C, Muirhead, R C J, Falk, I, Breur, M, de Bruin, J, Hollaus, D, Pieterman, R, Anink, J, Story, D, Chandran, S, Tang, J, Trolese, M C, Saito, T, Saido, T C, Wiltshire, K H, Beltran-Lobo, P, Phillips, A, Antel, J, Healy, L, Dorion, M-F, Galloway, D A, Benoit, R Y, Amossé, Q, Ceyzériat, K, Badina, A M, Kövari, E, Bendotti, C, Aronica, E, Radulescu, C I, Wong, J H, Barron, A M, Smith, A M, Barnes, S J, Hampton, D W, van der Valk, P, Jacobson, S, Howell, O W, Baker, D, Kipp, M, Kaddatz, H, Tournier, B B, Millet, P, Matthews, P M, Moore, C S, Amor, S & Owen, D R 2023, ' Translocator protein is a marker of activated microglia in rodent models but not human neurodegenerative diseases ', Nature Communications, vol. 14, no. 1, pp. 5247 . https://doi.org/10.1038/s41467-023-40937-z

Schlagwörter: Experimental Autoimmune Encephalomyelitis, Science, Macrophages, Genetic Drift, Neurodegenerative Diseases, Article, 3. Good health, Mice, 616.89, Alzheimers-disease, Neurodegenerative Diseases/genetics, Animals, Medicine [Science], Myeloid Cells, Microglia

Dateibeschreibung: application/pdf

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/37640701
https://doaj.org/article/6e4226618e024c669f4f230499a8801b
http://hdl.handle.net/10044/1/105061
https://hdl.handle.net/10356/171517
https://cronfa.swan.ac.uk/Record/cronfa64510/Download/64510__28701__5fe55ad798f743b487bef368d4ae4064.pdf
https://hdl.handle.net/20.500.11820/6ef1531b-81aa-4fdc-a109-7c6fffa02d7d
https://www.pure.ed.ac.uk/ws/files/382115589/s41467_023_40937_z.pdf

Transgenic Overexpression of the Disordered Prion Protein N1 Fragment in Mice Does Not Protect Against Neurodegenerative Diseases Due to Impaired ER Translocation

Autoren: Behnam Mohammadi Luise Linsenmeier Mohsin Shafiq et al.

Quelle: Mol Neurobiol

Schlagwörter: Mice, Knockout, Neurons, 0301 basic medicine, Mice, 03 medical and health sciences, Cell-penetrating peptide, Neurons/metabolism [MeSH], Prion disease, Neurodegenerative Diseases/metabolism [MeSH], Animals [MeSH], Intrinsically disordered domains, Cytosolic prions, Mice, Knockout [MeSH], PrPC Proteins/metabolism [MeSH], Neurodegenerative Diseases/genetics [MeSH], Mice, Transgenic [MeSH], Mice [MeSH], Translocation, Article, Proteasome, PrPC Proteins/genetics [MeSH], Hippocampus/metabolism [MeSH], Animals, Mice, Transgenic, Neurodegenerative Diseases, PrPC Proteins, Hippocampus

Zugangs-URL: https://link.springer.com/content/pdf/10.1007/s12035-020-01917-2.pdf
https://pubmed.ncbi.nlm.nih.gov/32367491
https://pubmed.ncbi.nlm.nih.gov/32367491/
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7253391
https://link.springer.com/article/10.1007/s12035-020-01917-2
https://link.springer.com/content/pdf/10.1007/s12035-020-01917-2.pdf
https://fis-uke.de/portal/de/publications/transgenic-overexpression-of-the-disordered-prion-protein-n1-fragment-in-mice-does-not-protect-against-neurodegenerative-diseases-due-to-impaired-er-translocation(841fb23d-e5a3-4042-ac1e-86b849034eb2).html
https://www.ncbi.nlm.nih.gov/pubmed/32367491
https://repository.publisso.de/resource/frl:6471716

Genetic insights into immune mechanisms of Alzheimer's and Parkinson's disease

Autoren: Nott, Alexi Holtman, Inge R

Quelle: Nott, A & Holtman, I R 2023, 'Genetic insights into immune mechanisms of Alzheimer's and Parkinson's disease', Frontiers in Immunology, vol. 14, 1168539. https://doi.org/10.3389/fimmu.2023.1168539

Schlagwörter: Humans, Parkinson Disease/genetics, Alzheimer Disease/genetics, Genetic Predisposition to Disease, Genome-Wide Association Study, Neurodegenerative Diseases/genetics

Dateibeschreibung: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/37359515; info:eu-repo/semantics/altIdentifier/hdl/https://hdl.handle.net/11370/0fda2b38-4e67-40be-811e-41262f4dadb0; info:eu-repo/semantics/altIdentifier/pissn/1664-3224; info:eu-repo/semantics/altIdentifier/eissn/1664-3224

Verfügbarkeit: https://hdl.handle.net/11370/0fda2b38-4e67-40be-811e-41262f4dadb0
https://research.rug.nl/en/publications/0fda2b38-4e67-40be-811e-41262f4dadb0
https://doi.org/10.3389/fimmu.2023.1168539
https://pure.rug.nl/ws/files/820178730/fimmu-14-1168539.pdf
https://www.scopus.com/pages/publications/85163169210

ALS is imprinted in the chromatin accessibility of blood cells.

Autoren: Kühlwein, Julia Ruf, Wolfgang Danzer, Karin M et al.

Quelle: Cellular and molecular life sciences 80(5), 131 (2023). doi:10.1007/s00018-023-04769-w

Schlagwörter: info:eu-repo/classification/ddc/610, Humans, Amyotrophic Lateral Sclerosis: metabolism, Epigenesis, Genetic, Chromatin, Genetic Predisposition to Disease, Neurodegenerative Diseases: genetics, Blood Cells: metabolism, Blood Cells: pathology, Chromatin remodeling, Epigenome, Integrated analysis, Motor neuron disease, Regulatory elements, Single-nuclei sequencing

Geographisches Schlagwort: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/0014-4754; info:eu-repo/semantics/altIdentifier/pmid/pmid:37095391; info:eu-repo/semantics/altIdentifier/issn/1420-9071; info:eu-repo/semantics/altIdentifier/issn/1420-682X; https://pub.dzne.de/record/257780

Verfügbarkeit: https://pub.dzne.de/record/257780
https://pub.dzne.de/search?p=id:%22DZNE-2023-00495%22

Generation of a heterozygous and a homozygous CSF1R knockout line from iPSC using CRISPR/Cas9.

Autoren: Schmitz, Anne S Korneck, Milena Raju, Janani et al.

Quelle: Stem cell research 69, 103066 (2023). doi:10.1016/j.scr.2023.103066

Schlagwörter: info:eu-repo/classification/ddc/570, Adult, Humans, Induced Pluripotent Stem Cells, Neurodegenerative Diseases: genetics, CRISPR-Cas Systems: genetics, Neuroglia, Leukoencephalopathies: genetics, Mutation

Geographisches Schlagwort: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/1873-5061; info:eu-repo/semantics/altIdentifier/pmid/pmid:36947995; info:eu-repo/semantics/altIdentifier/issn/1876-7753; https://pub.dzne.de/record/257319

Verfügbarkeit: https://pub.dzne.de/record/257319
https://pub.dzne.de/search?p=id:%22DZNE-2023-00388%22

The Fragile X Protein Family in Amyotrophic Lateral Sclerosis.

Autoren: Mueller, Sarah Decker, Lorena Menge, Sonja et al.

Quelle: Molecular neurobiology 60(7), 3898-3910 (2023). doi:10.1007/s12035-023-03330-x

Schlagwörter: info:eu-repo/classification/ddc/570, Humans, Amyotrophic Lateral Sclerosis: genetics, Amyotrophic Lateral Sclerosis: metabolism, Neurodegenerative Diseases: genetics, RNA-Binding Proteins: genetics, Motor Neurons: metabolism, DNA Damage, RNA-Binding Protein FUS: genetics, Fragile X Mental Retardation Protein: genetics, Amyotrophic lateral sclerosis ALS, FMR1 FMRP, FXR1 FXR1P, FXR2 FXR2P, Neurodegenerative disease, Protein aggregation

Geographisches Schlagwort: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/0893-7648; info:eu-repo/semantics/altIdentifier/pmid/pmid:36991279; info:eu-repo/semantics/altIdentifier/issn/1559-1182; https://pub.dzne.de/record/257569

Verfügbarkeit: https://pub.dzne.de/record/257569
https://pub.dzne.de/search?p=id:%22DZNE-2023-00449%22

DNA hypomethylation perturbs the function and survival of CNS neurons in postnatal animals.

Autoren: Fan, G. Beard, C. Chen, R.Z. et al.

Schlagwörter: Animals, Newborn, Cell Count, Cell Death, Cell Survival/physiology, Cells, Cultured, Central Nervous System/growth &, development, Central Nervous System/metabolism, Crosses, Genetic, DNA (Cytosine-5-)-Methyltransferase/deficiency, DNA (Cytosine-5-)-Methyltransferase/genetics, DNA Methylation, Electrophysiology, Gene Targeting, Mice, Transgenic, Mosaicism/genetics, Neurodegenerative Diseases/genetics, Neurodegenerative Diseases/metabolism, Neurons/cytology, Neurons/metabolism, Respiratory Insufficiency/genetics, Stem Cells/cytology, Stem Cells/metabolism

Relation: Journal of Neuroscience; 1529-2401[electronic]; https://iris.unil.ch/handle/iris/77473; serval:BIB_20777; 000166778900009

Verfügbarkeit: https://iris.unil.ch/handle/iris/77473

Mitochondrial biogenesis and dynamics in neurodegeneration: a causative relationship.

Autoren: Nikoletopoulou, V. Tavernarakis, N.

Schlagwörter: Animals, Humans, Mitochondria/genetics, Mitochondria/metabolism, Mitochondrial Proteins/genetics, Mitochondrial Proteins/metabolism, Mutation/genetics, Neurodegenerative Diseases/etiology, Neurodegenerative Diseases/genetics, Neurodegenerative Diseases/metabolism, Neurons/metabolism

Relation: Neurochemical Research; https://iris.unil.ch/handle/iris/64021; serval:BIB_13E5F7FC1B47; 000331697800012

Verfügbarkeit: https://iris.unil.ch/handle/iris/64021
https://doi.org/10.1007/s11064-013-0997-0

The novel hydroxylamine derivative NG-094 suppresses polyglutamine protein toxicity in Caenorhabditis elegans.

Autoren: Haldimann, P. Muriset, M. Vígh, L. et al.

Schlagwörter: Aging/drug effects, Aging/metabolism, Animals, Caenorhabditis elegans/metabolism, Caenorhabditis elegans Proteins/genetics, Caenorhabditis elegans Proteins/metabolism, Drug Evaluation, Preclinical, Humans, Hydroxylamines/chemistry, Hydroxylamines/pharmacology, Insulin-Like Growth Factor I/genetics, Insulin-Like Growth Factor I/metabolism, Muscle Proteins/metabolism, Neurodegenerative Diseases/drug therapy, Neurodegenerative Diseases/genetics, Peptides/genetics, Peptides/metabolism, Transcription Factors/genetics, Transcription Factors/metabolism

Relation: Journal of Biological Chemistry; https://iris.unil.ch/handle/iris/39706; serval:BIB_2B27FFFA52DD; 000290785700051

Verfügbarkeit: https://iris.unil.ch/handle/iris/39706
https://doi.org/10.1074/jbc.M111.234773

α V β 3 Integrin regulates astrocyte reactivity.

Autoren: Lagos-Cabré, R. Alvarez, A. Kong, M. et al.

Schlagwörter: Animals, Genetically Modified, Newborn, Astrocytes/drug effects, Astrocytes/physiology, Cell Movement/drug effects, Cell Movement/genetics, Cell Movement/physiology, Cells, Cultured, Connexins/genetics, Connexins/metabolism, Disease Models, Animal, Gene Expression Regulation/drug effects, Gene Expression Regulation/genetics, Humans, Integrin alphaVbeta3/genetics, Integrin alphaVbeta3/metabolism, Mice, Nerve Tissue Proteins/genetics, Nerve Tissue Proteins/metabolism, Neurodegenerative Diseases/genetics, Neurodegenerative Diseases/pathology, Rats, Receptors, Purinergic P2/genetics, Purinergic P2/metabolism, Signal Transduction/drug effects, Signal Transduction/genetics

Dateibeschreibung: application/pdf

Relation: Journal of Neuroinflammation; https://iris.unil.ch/handle/iris/176206; serval:BIB_7ECF79075A64; 000412016400002

Verfügbarkeit: https://iris.unil.ch/handle/iris/176206
https://doi.org/10.1186/s12974-017-0968-5

DNA methylation signatures of Alzheimer’s disease neuropathology in the cortex are primarily driven by variation in non-neuronal cell-types

Autoren: Gemma Shireby Emma L. Dempster Stefania Policicchio et al.

Quelle: Nat Commun
Nature Communications, Vol 13, Iss 1, Pp 1-14 (2022)

Schlagwörter: 0301 basic medicine, DNA Methylation - genetics, Science, Neurofibrillary Tangles/genetics, Neurodegenerative Diseases, Neurofibrillary Tangles, DNA Methylation, Article, Epigenesis, Genetic, 3. Good health, 03 medical and health sciences, Genetic, Alzheimer Disease, name=Cerebrovascular and Dementia Research Group, Neurofibrillary Tangles - genetics - metabolism, Neurodegenerative Diseases/genetics, Humans, Alzheimer Disease/metabolism, Alzheimer Disease - metabolism, Neurodegenerative Diseases - genetics, DNA Methylation/genetics, Epigenesis

Dateibeschreibung: application/pdf

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/36153390
https://doaj.org/article/4898751694c340419ac1ca01ad423bfa