المؤلفون: Gandhari Maity-Kumar, Lisa Ständer, Meri DeAngelis, Sooyeon Lee, Anna Molenaar, Lore Becker, Lillian Garrett, Oana V. Amerie, Sabine M. Hoelter, Wolfgang Wurst, Helmut Fuchs, Annette Feuchtinger, Valerie Gailus-Durner, Cristina Garcia-Caceres, Ahmed E. Othman, Caroline Brockmann, Vanessa I. Schöffling, Katja Beiser, Heiko Krude, Piotr A. Mroz, Susanna Hofmann, Jan Tuckermann, Richard D. DiMarchi, Martin Hrabe de Angelis, Matthias H. Tschöp, Paul T. Pfluger, Timo D. Müller

المصدر: Molecular metabolism 66, 101616-(2022). doi:10.1016/j.molmet.2022.101616
Mol. Metab. 66:101616 (2022)

مصطلحات موضوعية: Thyroid Hormones, genetics [Mental Retardation, X-Linked], Cell Biology, Energy metabolism, genetics [Symporters], Allan-herndon Dudley Syndrome, Energy Metabolism, Mct8, Motor Coordination, Myelination, Oatp1c1, Thyroid Hormone, Thyroid hormone, Mice, genetics [Monocarboxylic Acid Transporters], Animals, Motor coordination, ddc:610, Molecular Biology, Allan-Herndon Dudley Syndrome

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07522a0a50e1e9cff00feafd0e6f867bTest

المؤلفون: Jan Christoph Uter, Ulrike M. Krämer, Ludger Schöls, Antoni Rodriguez-Fornells, Anna Göbel, Marcus Heldmann, Peter Lichtner, Georg Brabant, Thomas F. Münte

المصدر: Experimental and clinical endocrinology & diabetes 128(09), 573-581 (2020). doi:10.1055/a-1065-1786

مصطلحات موضوعية: Adult, Male, Monocarboxylic Acid Transporters, 0301 basic medicine, Adolescent, Genotype, Psychometrics, Endocrinology, Diabetes and Metabolism, Pilot Projects, Neuropsychological Tests, Iodide Peroxidase, Polymorphism, Single Nucleotide, genetics [Biological Variation, Population], Executive Function, Young Adult, 03 medical and health sciences, genetics [Monocarboxylic Acid Transporters], 0302 clinical medicine, Endocrinology, Surveys and Questionnaires, Internal Medicine, Humans, ddc:610, Genetic Association Studies, Symporters, genetics [Amino Acid Transport Systems, Neutral], genetics [Iodide Peroxidase], General Medicine, genetics [Symporters], physiology [Executive Function], Amino Acid Transport Systems, Neutral, 030104 developmental biology, Biological Variation, Population, genetics [Personality], Female, 030217 neurology & neurosurgery, Personality

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38d3739e973f6da07bc48fac92ef53deTest
https://doi.org/10.1055/a-1065-1786Test

المؤلفون: Cendrine Repond, Luc Pellerin, Sanja Ramljak, Inga Zerr, Matthias Schmitz

المساهمون: Centre de résonance magnétique des systèmes biologiques (CRMSB), Centre National de la Recherche Scientifique (CNRS)-Université de Bordeaux (UB)

المصدر: International Journal of Molecular Sciences
International Journal of Molecular Sciences, MDPI, 2021, 22 (4), pp.1566. ⟨10.3390/ijms22041566⟩
International Journal of Molecular Sciences, Vol 22, Iss 1566, p 1566 (2021)
International journal of molecular sciences, vol. 22, no. 4, pp. 1566
International journal of molecular sciences 22(4), 1566-(2021). doi:10.3390/ijms22041566

مصطلحات موضوعية: Na+/K+ ATPase, ATPase, [SDV]Life Sciences [q-bio], animal diseases, I, M, lcsh:Chemistry, Mice, 0302 clinical medicine, Cerebellum, MCT1, MCT4, Western blot, cellular prion protein, cortex, prionprotein knockout, qRT-PCR, lcsh:QH301-705.5, Spectroscopy, ComputingMilieux_MISCELLANEOUS, Monocarboxylate transporter, physiology [Prion Proteins], Cerebral Cortex, Mice, Knockout, 0303 health sciences, Pellerin, biology, Symporters, Chemistry, metabolism [Lactic Acid], Brief Report, Prnp protein, mouse, Zerr, General Medicine, metabolism [Monocarboxylic Acid Transporters], metabolism [Cerebellum], Computer Science Applications, medicine.anatomical_structure, Cerebral cortex, ddc:540, Energy source, Glycolysis, Monocarboxylic Acid Transporters, S, metabolism [Symporters], metabolism [RNA, Messenger], Catalysis, Prion Proteins, Inorganic Chemistry, 03 medical and health sciences, genetics [RNA, Messenger], C, genetics [Monocarboxylic Acid Transporters], Downregulation and upregulation, medicine, Animals, Repond, Lactic Acid, RNA, Messenger, Physical and Theoretical Chemistry, Na+/K+-ATPase, Molecular Biology, 030304 developmental biology, Messenger RNA, Schmitz, Na + /K + ATPase, Intercellular transport, metabolism [Cerebral Cortex], Organic Chemistry, monocarboxylate transport protein 1, Biological Transport, Molecular biology, genetics [Symporters], nervous system diseases, Mice, Inbred C57BL, lcsh:Biology (General), lcsh:QD1-999, Ramljak, L cellular prion protein, biology.protein, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bea6bf00be718465b30f60f04fe500d7Test
https://pubmed.ncbi.nlm.nih.gov/33557247Test

المؤلفون: Robak, Laurie A., Jansen, Iris E., Rooij, Jeroen van, Uitterlinden, André G., Kraaij, Robert, Jankovic, Joseph, Heutink, Peter, Shulman, Joshua M., Nalls, Mike A., Plagnol, Vincent, Hernandez, Dena G., Sharma, Manu, Sheerin, Una Marie, Saad, Mohamad, Simón-Sánchez, Javier, Schulte, Claudia, Lesage, Suzanne, Sveinbjörnsdóttir, Sigurlaug, Arepalli, Sampath, Barker, Roger, Ben, Yoav, Berendse, Henk W., Berg, Daniela, Bhatia, Kailash, de Bie, Rob M.A., Biffi, Alessandro, Bloem, Bas, Bochdanovits, Zoltan, Bonin, Michael, Bras, Jose M., Brockmann, Kathrin, Brooks, Janet, Burn, David J., Majounie, Elisa, Charlesworth, Gavin, Lungu, Codrin, Chen, Honglei, Chinnery, Patrick F., Chong, Sean, Clarke, Carl E., Cookson, Mark R., Cooper, J. Mark, Corvol, Jean Christophe, Counsell, Carl, Damier, Philippe, Dartigues, Jean François, Deloukas, Panos, Deuschl, Günther, Dexter, David T., van Dijk, Karin D., Dillman, Allissa, Durif, Frank, Dürr, Alexandra, Edkins, Sarah, Evans, Jonathan R., Foltynie, Thomas, Dong, Jing, Gardner, Michelle, Gibbs, J. Raphael, Goate, Alison, Gray, Emma, Guerreiro, Rita, Harris, Clare, van Hilten, Jacobus J., Hofman, Albert, Hollenbeck, Albert, Holton, Janice, Hu, Michele, Huang, Xuemei, Wurster, Isabel, Mätzler, Walter, Hudson, Gavin, Hunt, Sarah E., Huttenlocher, Johanna, Illig, Thomas, Jónsson, Pálmi V., Lambert, Jean Charles, Langford, Cordelia, Lees, Andrew, Lichtner, Peter, Limousin, Patricia, Lopez, Grisel, Lorenz, Delia, McNeill, Alisdair, Moorby, Catriona, Moore, Matthew, Morris, Huw R., Morrison, Karen E., Escott-Price, Valentina, Mudanohwo, Ese, O’sullivan, Sean S., Pearson, Justin, Perlmutter, Joel S., Pétursson, Hjörvar, Pollak, Pierre, Post, Bart, Potter, Simon, Ravina, Bernard, Revesz, Tamas, Riess, Olaf, Rivadeneira, Fernando, Rizzu, Patrizia, Ryten, Mina, Sawcer, Stephen, Schapira, Anthony, Scheffer, Hans, Shaw, Karen, Shoulson, Ira, Shulman, Joshua, Sidransky, Ellen, Smith, Colin, Spencer, Chris C.A., Stefánsson, Hreinn, Bettella, Francesco, Stockton, Joanna D., Strange, Amy, Talbot, Kevin, Tanner, Carlie M., Tashakkori-Ghanbaria, Avazeh, Tison, François, Trabzuni, Daniah, Traynor, Bryan J., Velseboer, Daan, Vidailhet, Marie, Walker, Robert, Warrenburg, Bart van de, Wickremaratchi, Mirdhu, Williams, Nigel, Williams-Gray, Caroline H., Winder-Rhodes, Sophie, Stefánsson, Kári, Martinez, Maria, Wood, Nicholas W., Hardy, John, Brice, Alexis, Gasser, Thomas, Singleton, Andrew B.

المساهمون: Erasmus University Medical Center [Rotterdam] (Erasmus MC), Ctr Life Sci Technol, Div Gen Technol, Tsurumi Ku, RIKEN - Institute of Physical and Chemical Research [Japon] (RIKEN), Neurology, ANS - Neurodegeneration, ANS - Amsterdam Neuroscience, Intensive Care Medicine, ANS - Neuroinfection & -inflammation, Graduate School, ACS - Amsterdam Cardiovascular Sciences, APH - Aging & Later Life, Amsterdam Neuroscience - Neurodegeneration, Human genetics, Internal Medicine, Erasmus MC other

المصدر: Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2017, 140 (12), pp.3191-3203. ⟨10.1093/brain/awx285⟩
Brain, 140, 3191-3203
Brain, 140(12), 3191-3203. Oxford University Press
Brain, 140, 12, pp. 3191-3203
Brain : a journal of neurology, 140(12), 3191-3203
Brain, 140, 3191-3203. Oxford University Press
Brain 140(12), 3191-3203 (2017). doi:10.1093/brain/awx285
Robak, L A, Jansen, I E, van Rooij, J, Uitterlinden, A G, Kraaij, R, Jankovic, J, Heutink, P, Shulman, J M, International Parkinson’s Disease Genomics Consortium (IPDGC), IPDGC Consortium members & International Parkinson’s Disease Genomics Consortium (IPDGC) 2017, ' Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease ', Brain : a journal of neurology, vol. 140, no. 12, pp. 3191-3203 . https://doi.org/10.1093/brain/awx285Test

مصطلحات موضوعية: Male, 0301 basic medicine, Parkinson's disease, Acid Ceramidase, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Organic Anion Transporters, ASAH1 protein, human, Disease, CTSD protein, human, Cathepsin D, genetics [Glucosylceramidase], whole exome sequencing, Cohort Studies, 0302 clinical medicine, genetics [Parkinson Disease], Exome, genetics, Exome sequencing, ComputingMilieux_MISCELLANEOUS, Aged, 80 and over, Genetics, Symporters, [SDV.NEU.PC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Psychology and behavior, [SDV.NEU.SC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Cognitive Sciences, genetics [Organic Anion Transporters], Middle Aged, genetics [Lysosomal Storage Diseases], Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Control subjects, sphingomyelin phosphodiesterase 1, human, 3. Good health, sialic acid transport proteins, Sphingomyelin Phosphodiesterase, ASAH1, Glucosylceramidase, Female, Adult, Genotype, Biology, lysosomal storage disorders, 03 medical and health sciences, medicine, Humans, Genetic Predisposition to Disease, ddc:610, Genotyping, Gene, Aged, [SCCO.NEUR]Cognitive science/Neuroscience, Original Articles, medicine.disease, genetics [Symporters], genetics [Acid Ceramidase], nervous system diseases, genetics [Cathepsin D], 030104 developmental biology, Case-Control Studies, Mutation, genetics [Sphingomyelin Phosphodiesterase], Neurology (clinical), Glucocerebrosidase, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f8219d50fc45fa0bbaee79b406a39e3Test
http://www.scopus.com/inward/record.url?scp=85038218327&partnerID=8YFLogxKTest

المؤلفون: Claudia Schulte, Erwin Schleicher, Daniela Berg, Stefanie Lerche, Ann-Kathrin Hauser, Isabel Wurster, Walter Maetzler, Arthur Melms, Anne Kathrin Stapf

المصدر: Journal of Alzheimer's disease 27(1), 119-126 (2011). doi:10.3233/JAD-2011-110587

مصطلحات موضوعية: complications [Lewy Body Disease], Male, SLC12A3 protein, human, Receptors, Drug, Glucose Transport Proteins, Facilitative, cerebrospinal fluid [Lewy Body Disease], chemistry.chemical_compound, Cerebrospinal fluid, genetics [Lewy Body Disease], Polymorphism (computer science), SLC2A9 protein, human, ATP Binding Cassette Transporter, Subfamily G, Member 2, genetics [Amyloid beta-Peptides], Solute Carrier Family 12, Member 3, ABCG2 protein, human, Cognitive decline, genetics [Glucose Transport Proteins, Facilitative], Aged, 80 and over, Symporters, General Neuroscience, General Medicine, Middle Aged, amyloid beta-protein (1-42), Neoplasm Proteins, Psychiatry and Mental health, Clinical Psychology, genetics [Receptors, Drug], Disease Progression, Female, blood [Uric Acid], cerebrospinal fluid [Uric Acid], hormones, hormone substitutes, and hormone antagonists, Lewy Body Disease, medicine.medical_specialty, Single-nucleotide polymorphism, tau Proteins, Polymorphism, Single Nucleotide, Internal medicine, medicine, Dementia, Humans, ddc:610, Aged, genetics [Neoplasm Proteins], Amyloid beta-Peptides, Lewy body, Dementia with Lewy bodies, business.industry, blood [Lewy Body Disease], etiology [Cognition Disorders], medicine.disease, genetics [Peptide Fragments], genetics [Symporters], Peptide Fragments, Uric Acid, genetics [tau Proteins], Endocrinology, chemistry, Uric acid, ATP-Binding Cassette Transporters, genetics [ATP-Binding Cassette Transporters], Geriatrics and Gerontology, business, Cognition Disorders, Mental Status Schedule

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92012ba206320490afa391aa5157efa2Test

المؤلفون: U. Benjamin Kaupp, Ilva Putzier, Stephan Frings, Hiroshi Kaneko, Thomas Gensch

المصدر: The journal of neuroscience 24, 7931-7938 (2004). doi:10.1523/JNEUROSCI.2115-04.2004

مصطلحات موضوعية: N-(6-methoxyquinolyl)acetoethyl ester, Receptors, Drug, metabolism [Sodium-Potassium-Chloride Symporters], Polymerase Chain Reaction, Slc12a3 protein, rat, physiology [Olfactory Receptor Neurons], Mice, ddc:590, ultrastructure [Dendrites], Cyclic AMP, Solute Carrier Family 12, Member 2, Homeostasis, Solute Carrier Family 12, Member 3, metabolism [Receptors, Drug], Calcium signaling, chloride cotransport, Symporters, General Neuroscience, pharmacokinetics [Fluorescent Dyes], Depolarization, Sodium Chloride Symporters, fluorescence lifetime imaging, physiology [Cyclic AMP], Biochemistry, genetics [Receptors, Drug], physiology [Cilia], physiology [Ion Transport], Quinolines, physiology [Calcium Signaling], Transduction (physiology), metabolism [Olfactory Receptor Neurons], Intracellular, Cellular/Molecular, Signal Transduction, olfaction, Slc12a3 protein, mouse, sensory transduction, chloride homeostasis, Sodium-Potassium-Chloride Symporters, metabolism [Symporters], calcium-activated chloride channels, Biology, methods [Microscopy, Fluorescence], pharmacokinetics [Quinolines], Olfactory Receptor Neurons, Chlorides, Animals, metabolism [Dendrites], Calcium Signaling, Cilia, sodium-potassium-chloride cotransporter 1 protein, thiazide receptor, Ion transporter, Ion channel, Fluorescent Dyes, Ion Transport, Dendrites, genetics [Sodium-Potassium-Chloride Symporters], Apical membrane, genetics [Symporters], Rats, potassium-chloride symporters, Microscopy, Fluorescence, Biophysics, metabolism [Chlorides], Cotransporter

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af5162278e613aee0b5f255913dceea1Test
https://hdl.handle.net/2128/20540Test