المؤلفون: Martin Hrabé de Angelis, Christoph S. Clemen, Valerie Gailus-Durner, Ilka Wittig, Rolf Schröder, Lilli Winter, Lore Becker, Britta Eggers, Stephan von Hörsten, Marcus Krüger, Andreas J. Schmidt, Helmut Fuchs, Ludwig Eichinger, Carolin Berwanger, Katrin Marcus, Andreas Hofmann, Roland Coras, Fabio Canneva

المساهمون: The German Mouse Clinic Consortium

المصدر: Neuropathol. Appl. Neurobiol. 48:e12750 (2022)

مصطلحات موضوعية: Proteomics, medicine.medical_specialty, Histology, Hereditary spastic paraplegia, WASH Complex Subunit Strumpellin, SPG8, Pathology and Forensic Medicine, Mice, N471D strumpellin knock-in mice, Downregulation and upregulation, Physiology (medical), White blood cell, Internal medicine, Gene knockin, medicine, Animals, HSP (hereditary spastic paraplegia), ddc:610, Mice, Knockout, Bptf, Hsp (hereditary Spastic Paraplegia), Klhl11, N471d Strumpellin Knock-in Mice, Nurf, Spg8, Strumpellin, Wash Complex Subunit 5, Hematology, WASH complex subunit 5, Spastic Paraplegia, Hereditary, Neurodegeneration, Intracellular Signaling Peptides and Proteins, Brain, medicine.disease, KLHL11, Phenotype, ddc, NURF, Endocrinology, medicine.anatomical_structure, Neurology, Mutation, BPTF, Neurology (clinical), strumpellin

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::830c5348adb774d88e0f8eff0d35f9e8
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=62624

المؤلفون: Kelly, Carolyn M., Zeiger, Peter J., Narayanan, Vinodh, Ramsey, Keri, Sondermann, Holger

المصدر: The Journal of Biological Chemistry
The journal of biological chemistry 298(1), 101438 (2022). doi:10.1016/j.jbc.2021.101438

مصطلحات موضوعية: Protein Conformation, membrane tethering, MLV, multilamellar vesicle, DRP, dynamin-related protein, FRET, Förster resonance energy transfer, HSN, hereditary sensory neuropathy, EEG, electroencephalogram, GTP Phosphohydrolases, ER, endoplasmic reticulum, GTP-Binding Proteins, Humans, ddc:610, CP, cerebral palsy, GED, GTPase effector domain, GTPase, HSP, hereditary spastic paraplegia, Spastic Paraplegia, Hereditary, BSE, bundle signaling element, Membrane Proteins, ATL1, atlastin-1, WT, wild-type, Mutagenesis, Insertional, TKO, triple-knockout, Mutation, ACTH, adrenocorticotropic hormone, neuropathy, MRI, magnetic resonance imaging, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19ae4587531d6d7ae408deb09c6a347e
http://europepmc.org/articles/PMC8688574

المؤلفون: Cory J. White, Michael J. Wolfgang, Jessica M. Ellis

المصدر: The Journal of Biological Chemistry

مصطلحات موضوعية: 0301 basic medicine, Central Nervous System, DHA, docosahexaenoic acid, AA, arachidonic acid, Biochemistry, PEtN, phosphoethanolamine, Substrate Specificity, chemistry.chemical_compound, PC, phosphatidylcholine, Mice, PFC, prefrontal cortex, Homeostasis, ANOVA, analysis of variance, Phospholipids, Chemistry, Fatty Acids, qRT-PCR, quantitative real-time polymerase chain reaction, Gene Expression Regulation, Developmental, HBSS, Hank’s buffered salt solution, Fasting, Lipidome, Cell biology, medicine.anatomical_structure, Docosahexaenoic acid, TRAP, translating ribosomal affinity purification, Ethanolamines, Phosphorus-Oxygen Lyases, Oxidation-Reduction, Astrocyte, Research Article, brain, Dietary lipid, Phospholipid, EtN, ethanolamine, liver, CNS, central nervous system, PE, phosphatidylethanolamine, 03 medical and health sciences, Membrane Lipids, astrocyte, Oxygen Consumption, Receptors, Glucocorticoid, lipid, eas, easily shocked, PUFA, polyunsaturated fatty acid, medicine, Animals, Molecular Biology, Glucocorticoids, Phosphatidylethanolamine, HSP, hereditary spastic paraplegia, KO, knockout, 030102 biochemistry & molecular biology, Brain morphometry, Cell Biology, Lipid Metabolism, Diet, 030104 developmental biology, phosphatidylethanolamine, Astrocytes, glucocorticoid, Etnppl, ethanolamine phosphate phospholyase, Ribosomes, FAO, fatty acid oxidation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9fa0c06c5b69b758ea263a612f71d70
http://europepmc.org/articles/PMC8233209

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المؤلفون: Kishin Koh, Hiroyuki Ishiura, Shoji Tsuji, Masahito Yamada, Yoshihisa Takiyama, Keiko Nakamura-Shindo, Kenjiro Ono

المصدر: eNeurologicalSci, Vol 19, Iss, Pp-(2020)
eNeurologicalSci

مصطلحات موضوعية: HSP, Hereditary spastic paraplegia, Pathology, medicine.medical_specialty, Ataxia, Hereditary spastic paraplegia, Corpus callosum, GBA2, Case Report, Neurological examination, Cataract, lcsh:RC346-429, 03 medical and health sciences, 0302 clinical medicine, Atrophy, GBA2, glucosylceramidase β2, medicine, SPG, spastic paraplegia gene, Missense mutation, 030212 general & internal medicine, Spasticity, lcsh:Neurology. Diseases of the nervous system, Spastic paraplegia gene 46, medicine.diagnostic_test, business.industry, Spastic paraplegia, medicine.disease, Bilateral Cataracts, Neurology, medicine.symptom, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23cabb6a7d03a7a5a5e8bd6478660b36
http://www.sciencedirect.com/science/article/pii/S2405650220300174

المؤلفون: Frédéric Darios, Giovanni Stevanin

المساهمون: Gestionnaire, Hal Sorbonne Université, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)

المصدر: Journal of Molecular Biology
Journal of Molecular Biology, 2020, 432 (8), pp.2714-2734. ⟨10.1016/j.jmb.2020.02.033⟩
Journal of Molecular Biology, Elsevier, 2020, 432 (8), pp.2714-2734. ⟨10.1016/j.jmb.2020.02.033⟩

مصطلحات موضوعية: autophagy, Endosome, [SDV]Life Sciences [q-bio], CLN, neuronal ceroid lipofuscinose, Lysosomal storage disorders, LSD, lysosomal storage disorder, mTOR, mammalian target of rapamycin, SCA7, spinocerebellar ataxia type 7, Article, 03 medical and health sciences, 0302 clinical medicine, FTLD, frontotemporal lobar degeneration, Structural Biology, trafficking, Lysosome, medicine, Animals, Humans, lysosomal storage diseases, Molecular Biology, 030304 developmental biology, 0303 health sciences, HSP, hereditary spastic paraplegia, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Cell Death, business.industry, Neurodegeneration, Autophagy, NPC, Niemann–Pick type C, Autophagosomes, Neurodegenerative Diseases, ALS, amyotrophic lateral sclerosis, medicine.disease, neuronal death, 3. Good health, [SDV] Life Sciences [q-bio], medicine.anatomical_structure, Lysosomes, business, signaling, Neuroscience, Metabolic Networks and Pathways, 030217 neurology & neurosurgery, Function (biology), [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd0dc781e108f6a4267705cba2ae315f
https://hal.sorbonne-universite.fr/hal-02617474/document

المؤلفون: Guglielmi, Alessio

المساهمون: Feiguin, Fabian

مصطلحات موضوعية: AD Alzheimer Disease APP Amyloid precursor protein CNS Central Nervous System DM Drosophila melanogaster HSP Hereditary Spastic Paraplegia LN Lewy’s neurite MT Microtubule MAP Microtubule associated protein MT Microtubule/s MTBD Microtubule binding domain NFT Neurofibrillary tangle NP Neuritic plaques PHF Paired helical filament PS1 Presenilin 1 PS2 Presenilin 2 SPG Spastic Paraplegia ThS Thioflavin S

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3507::4f68ffb0bb89701a2fef48e67e94173f
http://repozitorij.ung.si/IzpisGradiva.php?id=4778

المؤلفون: Atsushi Yamashita, Yoko Nemoto-Sasaki, Seisuke Arai, Saori Oka, Ikuo Wada, Naoki Matsumoto

المصدر: The Journal of Biological Chemistry

مصطلحات موضوعية: IB, immunoblot, 0301 basic medicine, environment and public health, Biochemistry, IMAC, immobilized metal affinity chromatography, PA, phosphatidic acid, Phosphorylation, LPI, lysophosphatidylinositol, CDK, cyclin-dependent kinase, biology, Kinase, Chemistry, IP, immunoprecipitation, cyclin-dependent kinase (CDK), GSK-3, glycogen synthase kinase-3, Cell biology, Phos-tag, Casein kinase 1, Casein kinase 2, λPP, lambda protein phosphatase, LPA, lysophosphatidic acid, Research Article, inorganic chemicals, Hyperphosphorylation, Glycerophospholipids, 03 medical and health sciences, Cyclin-dependent kinase, CDC2 Protein Kinase, Humans, Molecular Biology, MALDI-TOF MS, matrix-assisted laser desorption ionization time-of-flight mass spectrometry, Cyclin-dependent kinase 1, HSP, hereditary spastic paraplegia, 030102 biochemistry & molecular biology, Spastic Paraplegia, Hereditary, Cyclin-dependent kinase 5, Cell Membrane, DDHD domain containing 1 (DDHD1), Cell Biology, Phospholipases A1, CK2, casein kinase 2, enzymes and coenzymes (carbohydrates), HEK293 Cells, 030104 developmental biology, Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization, phospholipase A1 (PLA1), biology.protein, bacteria, Cyclin A2, hereditary spastic paraplegia (HSP)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21d175e58d603e4f9d77fc9de85bb3a0
https://doi.org/10.1016/j.jbc.2021.100851

المصدر: Encyclopedic Reference of Genomics and Proteomics in Molecular Medicine. :820-820

المؤلفون: Orlando Graziani Povoas Barsottini, Ingrid Faber, Wilson Marques, Marcondes C. França, Melina Pazian Martins, Thiago Junqueira Ribeiro de Rezende, Carlos Roberto Martins, Charles Marques Lourenço, Antonio Orlacchio, Iscia Lopes-Cendes, Alberto R. M. Martinez, José Luiz Pedroso, Celeste Montecchiani

المصدر: NeuroImage: Clinical, Vol 19, Iss, Pp 848-857 (2018)
NeuroImage : Clinical

مصطلحات موضوعية: 0301 basic medicine, Nervous system, Pathology, CA, cord area, LH, left hemisphere, ROI, region of interest, SPRS, Spastic Paraplegia Rating Scale, lcsh:RC346-429, CE, cord eccentricity, 0302 clinical medicine, Basal ganglia, FA, fractional anisotropy, CST, corticospinal tract, Spinal cord, CMAP, compound muscle action potential, White matter, PNP, sensory-motor polyneuropathy, Regular Article, ALS, amyotrophic lateral sclerosis, NPI, neuropsychiatric inventory, medicine.anatomical_structure, Neurology, RH, right hemisphere, lcsh:R858-859.7, STS, cortex adjacent to the superior temporal sulcus, WES, whole exome sequencing, medicine.medical_specialty, Grey matter, Thinning of the corpus callosum, Hereditary spastic paraplegia, Cognitive Neuroscience, SC, spinal cord, lcsh:Computer applications to medicine. Medical informatics, MOCA, Montreal cognitive assessment, 03 medical and health sciences, Neuroimaging, medicine, Complicated hereditary spastic paraplegia, Motor neuron disorder, SPG11, Radiology, Nuclear Medicine and imaging, ACE-R, Addenbrooke's Cognitive Examination Revised, WM, white matter, lcsh:Neurology. Diseases of the nervous system, MD, mean diffusivity, HSP, hereditary spastic paraplegia, business.industry, GM, grey matter, medicine.disease, SNAP, sensory nerve action potential, 030104 developmental biology, Corticospinal tract, PNS, peripheral nervous system, DTI, diffusion tensor imaging, Neurology (clinical), business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6945de9359ab3ed19750ff5bf40b428a
http://hdl.handle.net/11391/1432275