المؤلفون: Zohreh Hosseinzadeh, Stefanie Schuster, Yogesh Singh, Nefeli Zacharopoulou, Philip Höflinger, Ludger Schöls, Christos Stournaras, Florian Lang, Lisann Pelzl, Yamini Sharma, Stefan Hauser, Eberhart Zrenner, Daniel Rathbun

المصدر: Scientific Reports, Vol 10, Iss 1, Pp 1-10 (2020)
Scientific reports 10(1), 8391 (2020). doi:10.1038/s41598-020-64845-0

مصطلحات موضوعية: medicine.medical_specialty, Programmed cell death, Patch-Clamp Techniques, Lithium (medication), genetics [Sodium-Potassium-Exchanging ATPase], lcsh:Medicine, metabolism [Cell Membrane], Ouabain, Cell membrane, pharmacology [Bridged Bicyclo Compounds, Heterocyclic], genetics [Vesicular Transport Proteins], metabolism [Neuroacanthocytosis], Internal medicine, metabolism [Vesicular Transport Proteins], medicine, Humans, drug effects [Neurons], pathology [Neurons], metabolism [Sodium-Potassium-Exchanging ATPase], Patch clamp, Na+/K+-ATPase, lcsh:Science, Cells, Cultured, antagonists & inhibitors [Protein Serine-Threonine Kinases], Membrane potential, Multidisciplinary, pharmacology [Lithium], Chemistry, lcsh:R, drug effects [Membrane Potentials], Cell Differentiation, cytology [Induced Pluripotent Stem Cells], pathology [Cell Membrane], medicine.anatomical_structure, Endocrinology, antagonists & inhibitors [Immediate-Early Proteins], metabolism [Neurons], Case-Control Studies, cytology [Neurons], SGK1, drug effects [Cell Membrane], lcsh:Q, ddc:600, pharmacology [Benzoates], pathology [Neuroacanthocytosis], medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b78376c4b2009a2cf3944bfb257b95e7
http://link.springer.com/article/10.1038/s41598-020-64845-0

المؤلفون: Jae-Sook Park, Yiying Hu, Nancy M. Hollingsworth, Gabriel Miltenberger-Miltenyi, Aaron M. Neiman

المصدر: Journal of cell science 135(17), jcs260227 (2022). doi:10.1242/jcs.260227

مصطلحات موضوعية: complications [Neuroacanthocytosis], VPS13A protein, human, PH domain, Vesicular Transport Proteins, genetics [Mutation], Cell Biology, VPS13A, Lipid transport, Neuro-acanthocytosis syndromes, genetics [Vesicular Transport Proteins], metabolism [Neuroacanthocytosis], ddc:570, Mitochondrial Membranes, Mutation, metabolism [Mitochondrial Membranes], metabolism [Vesicular Transport Proteins], Humans, genetics [Neuroacanthocytosis], XK, Neurodegeneration, Neuroacanthocytosis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50c510b05cd09585b1fc997f78dd16c1
https://pub.dzne.de/record/165146

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85a11f11ba2dcce286d1c8736f08a8e7
https://doi.org/10.1016/j.mcn.2018.08.002

المؤلفون: Itishri Sahu, Lisann Pelzl, Mohamed Jemaà, Philip Höflinger, Rosi Bissinger, Ludger Schöls, Christos Stournaras, Florian Lang, Bhaeldin Elsir, Yogesh Singh, Basma Sukkar, Stefan Hauser

المصدر: Scientific Reports, Vol 7, Iss 1, Pp 1-10 (2017)
Scientific reports 7(1), 6457 (2017). doi:10.1038/s41598-017-06451-1

مصطلحات موضوعية: 0301 basic medicine, ORAI1 Protein, Lithium (medication), Stimulation, STIM1 protein, human, Benzoates, 0302 clinical medicine, metabolism [Neuroacanthocytosis], pathology [Neurons], metabolism [Calcium], genetics [ORAI1 Protein], ORAI1 protein, human, Multidisciplinary, Cell Death, ORAI1, Kinase, Cell Differentiation, metabolism [Stromal Interaction Molecule 1], STIM1, Healthy Volunteers, Neoplasm Proteins, Blot, metabolism [Neurons], metabolism [ORAI1 Protein], metabolism [Neoplasm Proteins], 030220 oncology & carcinogenesis, GSK 650394, Medicine, pathology [Fibroblasts], metabolism [Fibroblasts], Glucocorticoid, pharmacology [Benzoates], medicine.drug, medicine.medical_specialty, Science, drug effects [Apoptosis], Lithium, Biology, 03 medical and health sciences, pharmacology [Bridged Bicyclo Compounds, Heterocyclic], genetics [Stromal Interaction Molecule 1], Internal medicine, medicine, Humans, drug effects [Neurons], Stromal Interaction Molecule 1, drug effects [Fibroblasts], genetics [Neoplasm Proteins], pharmacology [Lithium], Bridged Bicyclo Compounds, Heterocyclic, 030104 developmental biology, Endocrinology, Apoptosis, Calcium, ddc:600, pathology [Neuroacanthocytosis]

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36db6ff1d3e13eb71323692fdd992960
https://doaj.org/article/34fec634c07e43438b1686562183e2b0

المؤلفون: Tilman E. Schäffer, Andreas Hermann, Florian Lang, Michael Föller, Christos Stournaras, Ludger Schöls, Lisann Pelzl

المصدر: Neurosignals 25(1), 117-126 (2017). doi:10.1159/000485457
Neurosignals, Vol 25, Iss 1, Pp 117-126 (2017)

مصطلحات موضوعية: Orai1, Erythrocytes, metabolism [Cytoskeleton], physiology [Autophagy], Vesicular Transport Proteins, Apoptosis, RAC1, Lithium, Exocytosis, lcsh:RC346-429, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, PAK1, Developmental Neuroscience, metabolism [Neuroacanthocytosis], medicine, metabolism [Erythrocytes], metabolism [Vesicular Transport Proteins], Autophagy, Animals, Humans, ddc:610, SGK1, lcsh:Neurology. Diseases of the nervous system, PI3K/AKT/mTOR pathway, Cytoskeleton, Chorea acanthocytosis, Neurons, VPS13A protein, human, Kinase, business.industry, Parkinsonism, lcsh:QP351-495, Store operated Ca2+ entry, medicine.disease, lcsh:Neurophysiology and neuropsychology, Neurology, metabolism [Neurons], 030220 oncology & carcinogenesis, Cancer research, Chorea-acanthocytosis, business, Tyrosine kinase, 030217 neurology & neurosurgery, Neuroacanthocytosis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3eb10fc3bb37f91e0b0fe1e595ba243
https://pubmed.ncbi.nlm.nih.gov/29179176

المؤلفون: Sabina Honisch, Ludger Schoels, Christos Stournaras, Florian Lang, Basma Sukkar, Itishri Sahu, Andreas Hermann, Lisann Pelzl, Alexander Storch, Yogesh Singh, Bhaeldin Elsir, Elisabeth Lang, Mohamed Jemaà, Rosi Bissinger

المصدر: Cellular Physiology and Biochemistry, Vol 42, Iss 5, Pp 2066-2077 (2017)
Cellular physiology and biochemistry 42(5), 2066-2077 (2017). doi:10.1159/000479901

مصطلحات موضوعية: 0301 basic medicine, Orai1, Physiology, Apoptosis, lcsh:Physiology, chemistry.chemical_compound, 0302 clinical medicine, metabolism [Neuroacanthocytosis], cytology [Fibroblasts], metabolism [Calcium], lcsh:QD415-436, Cells, Cultured, pharmacology [Heterocyclic Compounds, 3-Ring], biology, lcsh:QP1-981, ORAI1, Calcium Release Activated Calcium Channels, metabolism [Calcium Release Activated Calcium Channels], Cell biology, antagonists & inhibitors [Calcium Release Activated Calcium Channels], 030220 oncology & carcinogenesis, Fura-2, Heterocyclic Compounds, 3-Ring, metabolism [Fibroblasts], Neuroacanthocytosis, pharmacology [Boron Compounds], SOCE, Boron Compounds, SERCA, Thapsigargin, Cell Survival, drug effects [Cell Survival], Down-Regulation, Calcium-Transporting ATPases, drug effects [Apoptosis], Lithium, thapsitranstagin, lcsh:Biochemistry, 2-aminoethoxydiphenyl borate, 03 medical and health sciences, Downregulation and upregulation, Cell membrane scrambling, ddc:570, Humans, Propidium iodide, Neurodegeneration, PI3K/AKT/mTOR pathway, metabolism [Calcium-Transporting ATPases], drug effects [Fibroblasts], Phosphoinositide 3-kinase, pharmacology [Lithium], Fibroblasts, chemistry [Fura-2], 030104 developmental biology, chemistry, Microscopy, Fluorescence, drug effects [Down-Regulation], Case-Control Studies, biology.protein, Calcium, pathology [Neuroacanthocytosis]

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d4e2aa1cc30bf40e3b6ae6e53bdd801
https://pubmed.ncbi.nlm.nih.gov/28803243

المؤلفون: Alexander Storch, Christos Stournaras, Ludger Schöls, Patrick Münzer, Antonella Russo, Andreas Hermann, Britta Walker, Evi Schmid, Oliver Borst, Eva-Maria Schmidt, Martin Schaller, Caterina Faggio, Shuchen Gu, Ann-Kathrin Eyrich, Meinrad Gawaz, Jennifer Müller vom Hagen, Michael Föller, Florian Lang

المصدر: The FASEB journal 27(7), 2799-2806 (2013). doi:10.1096/fj.13-229286

مصطلحات موضوعية: Male, metabolism [Blood Platelets], metabolism [Cytoskeleton], Platelet Aggregation, Vesicular Transport Proteins, ultrastructure [Blood Platelets], Biochemistry, Cell Degranulation, R-SNARE Proteins, PAK1, metabolism [Neuroacanthocytosis], metabolism [Vesicular Transport Proteins], Platelet, Phosphorylation, Cytoskeleton, Microscopy, Confocal, Kinase, Neurodegeneration, Degranulation, Middle Aged, Class Ia Phosphatidylinositol 3-Kinase, Female, RNA Interference, metabolism [p21-Activated Kinases], Neuroacanthocytosis, Biotechnology, Adult, Blood Platelets, chorea-acanthocytosis, PI3K, VAMP8,aggregation, metabolism [Actins], Blotting, Western, Biology, Filamentous actin, Young Adult, physiology [Blood Platelets], genetics [Vesicular Transport Proteins], Microscopy, Electron, Transmission, ddc:570, Cell Line, Tumor, Genetics, medicine, Humans, Molecular Biology, VPS13A protein, human, metabolism [R-SNARE Proteins], medicine.disease, Molecular biology, VAMP8 protein, human, Actins, p21-Activated Kinases, Membrane protein, genetics [Neuroacanthocytosis], blood [Neuroacanthocytosis], metabolism [Class Ia Phosphatidylinositol 3-Kinase]

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::807c913e91b6d94c72287afd483486d9
https://doi.org/10.1096/fj.13-229286

المؤلفون: Lucia De Franceschi, Norman Kalmbach, Hannes Glass, Verena Lübben, Nancy Stanslowsky, Jared Sterneckert, Francesca Lupo, Anna Venneri, Florian Wegner, Niko Hensel, Arun Pal, Peter Reinhardt, Maximilian Naujock, Alexander Storch, Andreas Hermann, Peter Claus

المصدر: The journal of neuroscience 36(47), 12027-12043 (2016). doi:10.1523/JNEUROSCI.0456-16.2016

مصطلحات موضوعية: 0301 basic medicine, metabolism [GABAergic Neurons], actin cytoskeleton, striatal medium spiny neurons, Synaptic Transmission, 0302 clinical medicine, metabolism [Neuroacanthocytosis], metabolism [src-Family Kinases], GABAergic Neurons, Induced pluripotent stem cell, Research Articles, Cells, Cultured, Neurons, Kinase, patch-clamp electrophysiology, General Neuroscience, Neurodegeneration, Cell Differentiation, Src kinase, chorea-acanthocytosis, human induced pluripotent stem cells, pathology [Induced Pluripotent Stem Cells], Cell biology, metabolism [Induced Pluripotent Stem Cells], antagonists & inhibitors [src-Family Kinases], src-Family Kinases, Female, Neuroacanthocytosis, Proto-oncogene tyrosine-protein kinase Src, Adult, pathology [Corpus Striatum], Neurite, metabolism [Actins], Induced Pluripotent Stem Cells, Biology, Medium spiny neuron, 03 medical and health sciences, LYN, medicine, Humans, ddc:610, metabolism [Corpus Striatum], medicine.disease, Actin cytoskeleton, Corpus Striatum, Actins, 030104 developmental biology, pathology [GABAergic Neurons], Neuroscience, 030217 neurology & neurosurgery, pathology [Neuroacanthocytosis]

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2f8577f2b85958466c1ea72bfe83f55
http://hdl.handle.net/11562/962218

المؤلفون: Abdullah A. Al Kahtane, Saad Alkahtani, Andreas Hermann, Sabina Honisch, Ludger Schoels, Jennifer Mueller vom Hagen, Christos Stournaras, Alexander Starch, Shuchen Gu, Anna Tsapara, Florian Lang

المصدر: Cellular Physiology and Biochemistry, Vol 37, Iss 1, Pp 399-408 (2015)
Cellular physiology and biochemistry 37(1), 399-408 (2015). doi:10.1159/000430363

مصطلحات موضوعية: metabolism [Blood Platelets], Erythrocytes, metabolism [Cytoskeleton], Transcription, Genetic, Physiology, Vesicular Transport Proteins, Microfilament, metabolism [Cytoskeletal Proteins], lcsh:Physiology, Desmin, metabolism [Neuroacanthocytosis], Tubulin, metabolism [Erythrocytes], metabolism [Vesicular Transport Proteins], lcsh:QD415-436, Cytoskeleton, Intermediate filament, lcsh:QP1-981, Cell biology, genetics [Transcription, Genetic], genetics [Actins], metabolism [Fibroblasts], Neuroacanthocytosis, Blood Platelets, metabolism [Actins], Down-Regulation, macromolecular substances, Biology, lcsh:Biochemistry, Cytokeratin, Microtubule, ddc:570, genetics [Desmin], metabolism [Desmin], Humans, Actin, genetics [Cytoskeletal Proteins], VPS13A protein, human, Chorein, Fibroblasts, Actin cytoskeleton, Molecular biology, Actins, Cytoskeletal Proteins, genetics [Neuroacanthocytosis], Cytokeratins, genetics [Down-Regulation]

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe7cebd6e59e71bf92934f8a08e56586
https://pubmed.ncbi.nlm.nih.gov/26316086

المؤلفون: Siegl, C., Hamminger, P., Jank, H., Ahting, U., Bader, B., Danek, A., Gregory, A., Hartig, M., Hayflick, S., Hermann, A., Prokisch, H., Sammler, E.M., Yapici, Z., Prohaska, R., Salzer, U.

المصدر: PLoS ONE; Vol 8
PLOS ONE 8(10), e76715 (2013). doi:10.1371/journal.pone.0076715
PLoS ONE
PLoS ONE, Vol 8, Iss 10, p e76715 (2013)
PLoS ONE 8:e76715 (2013)

مصطلحات موضوعية: Adult, Male, Imipramine, Adolescent, Cations, Divalent, Chlorpromazine, pathology [Erythrocyte Membrane], pharmacology [Lysophospholipids], lcsh:Medicine, drug effects [Erythrocyte Membrane], chemistry [Phosphatidylserines], Acanthocytes, Phosphatidylserines, Primaquine, drug effects [Acanthocytes], pharmacology [Primaquine], Basal Ganglia, metabolism [Acanthocytes], pathology [Pantothenate Kinase-Associated Neurodegeneration], pathology [Basal Ganglia], metabolism [Neuroacanthocytosis], metabolism [Pantothenate Kinase-Associated Neurodegeneration], Humans, metabolism [Calcium], ddc:610, lcsh:Science, Child, Pantothenate Kinase-Associated Neurodegeneration, Ion Transport, pharmacology [Chlorpromazine], metabolism [Erythrocyte Membrane], lcsh:R, Erythrocyte Membrane, metabolism [Basal Ganglia], Middle Aged, Endocytosis, pathology [Acanthocytes], Case-Control Studies, lcsh:Q, Female, Calcium, Lysophospholipids, metabolism [Phosphatidylserines], Neuroacanthocytosis, pharmacology [Imipramine], lysophosphatidic acid, Research Article, pathology [Neuroacanthocytosis]

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::baedce7af308523c67016bcc0b0eee29