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المؤلفون: James E. Goldman, Alice Tang, Michelle L. Olsen, Natasha L. Pacheco, Jiangtao Li, Daniel Flint, Brett S. Phinney, Anthony W. Herren, Fatima Khan, Michael R. Heaven
المصدر: Molecular & cellular proteomics : MCP, vol 21, iss 1
Molecular & Cellular Proteomics : MCPمصطلحات موضوعية: Proteomics, Cnp, 2′,3′-cyclic-nucleotide 3′-phosphodiesterase, Nadk2, NAD kinase 2, mitochondrial, Pck2, phosphoenolpyruvate carboxykinase [GTP], mitochondrial, Slc16a1, monocarboxylate transporter 1, PPAR, peroxisome proliferator-activated receptor, Mog, myelin-oligodendrocyte glycoprotein, Nfe2l2, nuclear factor erythroid 2-related factor 2, Mlc1, membrane protein MLC1, Biochemistry, C1qc, complement C1q subcomponent subunit C, Transgenic, Analytical Chemistry, Acadl, Long-chain specific acyl-CoA dehydrogenase, mitochondrial, Myelin, Mice, Gsr, glutathione reductase, mitochondrial, Cryl1, lambda-crystallin homolog, Sqstm1, sequestosome-1, BCA, bicinchoninic acid assay, LC3, microtubule-associated protein 1A/1B-light chain 3, Gliosis, SRM, selected reaction monitoring, Aetiology, Gclm, glutamate--cysteine ligase regulatory subunit, μDIA, micro-data-independent acquisition, Acsl3, long-chain-fatty-acid--CoA ligase 3, Cat, catalase, Acot2, Acyl-coenzyme A thioesterase 2, Glial fibrillary acidic protein, Rps27a, ubiquitin-40S ribosomal protein S27a, Acsl6, long-chain-fatty-acid--CoA ligase 6, Aldh1l1, Cytosolic 10-formyltetrahydrofolate dehydrogenase, Slc25a18, mitochondrial glutamate carrier 2, Bsn, protein bassoon, Fabp7, fatty acid binding protein, brain, Plp1, myelin proteolipid protein, Gsta3, glutathione S-transferase A3, Prdx6, peroxiredoxin-6, Alexander Disease, Slc6a11, sodium- and chloride-dependent GABA transporter 3, Ccnd2, G1/S-specific cyclin-D2, Stxbp5l, syntaxin-binding protein 5-like, GAPDH, glyceraldehyde 3 phosphate dehydrogenase, Slc6a17, sodium-dependent neutral amino acid transporter SLC6A17, Biochemistry & Molecular Biology, Ilk, integrin-linked protein kinase, Kcnj10, ATP-sensitive inward rectifier potassium channel 10, Ugt8, Gan, gigaxonin, Ttyh1, protein tweety homolog 1, Hsp27, heat shock protein beta-1, TBI, traumatic brain injury, reactive gliosis, Hmgcs2, hydroxymethylglutaryl-CoA synthase, mitochondrial, Idh2, isocitrate dehydrogenase [NADP], mitochondrial, KEGG, Kyoto encyclopedia of genes and genomes, Genetics, Humans, Gpr37l1, prosaposin receptor GPR37L1, Molecular Biology, Txnrd1, thioredoxin reductase 1, cytoplasmic, Slc38a3, sodium-coupled neutral amino acid transporter 3, Animal, DAVID, database for annotation, visualization and integrated discovery, GFAP, glial fibrillary acidic protein, astrocytes, Rack1, receptor of activated protein C kinase 1, Ugt8, 2-hydroxyacylsphingosine 1-beta-galactosyltransferase, Apoa1, apolipoprotein A-I, medicine.disease, Oligodendrocyte, GABA, gamma aminobutyric acid, Slc27a1, long-chain fatty acid transport protein 1, nervous system, Fabp7, Mutation, Mag, myelin-associated glycoprotein, Gclc, glutamate--cysteine ligase catalytic subunit, Gsto1, glutathione S-transferase omega-1, Ephx1, epoxide hydrolase 1, Gpx1, glutathione peroxidase 1, C1qa, complement C1q subcomponent subunit A, MDD, major depressive disorder, Cd44, Cd44 antigen, Slc4a4, electrogenic sodium bicarbonate cotransporter 1, Neurodegenerative, Dlg4, disks large homolog 4, TIC, total ion current, Gstm1, glutathione S-transferase Mu 1, Alexander disease, 2.1 Biological and endogenous factors, Functional ability, Ndrg2, protein NDRG2, Sfxn5, sideroflexin-5, Ca2, carbonic anhydrase 2, S1pr1, sphingosine 1-phosphate receptor 1, Gpx3, glutathione peroxidase 3, Snap25, synaptosomal-associated protein 25, Sparcl1, SPARC-like protein 1, medicine.diagnostic_test, Prdx1, peroxiredoxin-1, medicine.anatomical_structure, Neurological, Pgd, 6-phosphogluconate dehydrogenase, decarboxylating, Mbp, myelin basic protein, LPA, lysophosphatidic acid, Astrocyte, Gss, glutathione synthetase, Stat3, signal transducer and activator of transcription 3, Biotechnology, Sorbs1, Sorbin and SH3 domain-containing protein 1, RFs, Rosenthal fibers, Pygb, glycogen phosphorylase, brain form, Ctsd, cathepsin D, Ddx3x, ATP-dependent RNA helicase DDX3X, Fasn, fatty acid synthase, Slc1a2, excitatory amino acid transporter 2, PPP, pentose phosphate pathway, Mice, Transgenic, Plpp3, phospholipid phosphatase 3, Biology, C1qb, complement C1q subcomponent subunit B, CNS, central nervous system, Gja1, gap junction alpha-1 protein, PRM-MS, parallel reaction monitoring-mass spectrometry, TFA, trifluoro acetic acid, Vim, vimentin, Rare Diseases, Western blot, Downregulation and upregulation, Acox1, peroxisomal acyl-coenzyme A oxidase 1, Mobp, myelin-associated oligodendrocyte basic protein, medicine, Atp1b2, sodium/potassium-transporting ATPase subunit beta-2, Animals, Cryab, alpha-crystallin B chain, MS2, MS/MS or tandem mass spectrometry, Research, Neurosciences, Molecular biology, Ntrk2, BDNF/NT-3 growth factors receptor, Brain Disorders, AxD, Alexander disease, Disease Models, Animal, Acox3, Peroxisomal acyl-coenzyme A oxidase 3, Disease Models, biology.protein, Ugp2, UTP--glucose-1-phosphate uridylyl transferase, Acot1, Acyl-coenzyme A thioesterase 1
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27db73f1a1ae5cb5705d0a860adbda89
https://hdl.handle.net/10919/111277 -
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المصدر: Neurochem Res
مصطلحات موضوعية: 0301 basic medicine, Proteomics, Proteome, Glutamic Acid, Biochemistry, Exocytosis, Article, Rats, Sprague-Dawley, 03 medical and health sciences, Cellular and Molecular Neuroscience, chemistry.chemical_compound, 0302 clinical medicine, medicine, Animals, Lactic Acid, Glycogen, Glutamate receptor, General Medicine, Pyruvate carboxylase, Cell biology, Citric acid cycle, 030104 developmental biology, medicine.anatomical_structure, Glucose, chemistry, Astrocytes, Calcium, Energy source, 030217 neurology & neurosurgery, Intracellular, Astrocyte
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المؤلفون: David C. Muddiman, Stephen Barnes, Daniel Flint, Michael Brenner, Shan M. Randall, Landon Wilson, Michael R. Heaven, Alexander A. Sosunov, James E. Goldman
المصدر: Journal of Proteome Research. 15:2265-2282
مصطلحات موضوعية: 0301 basic medicine, Proteome, Receptors, Cell Surface, Protein aggregation, Biology, Receptors for Activated C Kinase, Protein Aggregation, Pathological, Biochemistry, Article, DEAD-box RNA Helicases, Mice, Protein Aggregates, 03 medical and health sciences, GTP-binding protein regulators, Cyclin D2, GTP-Binding Proteins, medicine, Animals, Humans, Neuropeptides, Rosenthal fiber, General Chemistry, medicine.disease, Immunohistochemistry, Molecular biology, Alexander disease, Neoplasm Proteins, 030104 developmental biology, Astrocytes, Alexander Disease, DDX3X, RNA Helicases
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المؤلفون: Scott A. Shaffer, Michelle L. Olsen, Daniel Flint, Leanne M. Holt, David K. Crossman, Michael R. Heaven, Kristin J. Boggio, Natasha L. Pacheco
المصدر: Molecular Autism, Vol 8, Iss 1, Pp 1-24 (2017)
Molecular Autismمصطلحات موضوعية: Male, Proteomics, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Genotype, Proteome, Methyl-CpG-Binding Protein 2, Rett syndrome, Computational biology, Biology, lcsh:RC346-429, MECP2, Transcriptome, Mice, 03 medical and health sciences, Developmental Neuroscience, Tandem Mass Spectrometry, Translational regulation, medicine, Transcriptional regulation, Animals, Molecular Biology, Chromatography, High Pressure Liquid, lcsh:Neurology. Diseases of the nervous system, Cerebral Cortex, Mice, Knockout, Neurons, Sequence Analysis, RNA, Research, medicine.disease, Mice, Inbred C57BL, Disease Models, Animal, Psychiatry and Mental health, Phenotype, 030104 developmental biology, Proteostasis, RNA, Female, Multi-cellular deficits, Neuroscience, Developmental Biology
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المؤلفون: Marjo S. van der Knaap, James M. Powers, Michael Brenner, Daniel Flint, John F. Mantovani, James E. Goldman, Albee Messing, Sakkubai Naidu, Josef Ekstein, Lital S. Webster, Rong Li, Edwin H. Kolodny, Alan K. Percy
المساهمون: Other departments, Pediatric surgery, NCA - Childhood White Matter Diseases, Neuroscience Campus Amsterdam - Childhood White Matter Diseases
المصدر: Flint, D, Li, R, Webster, L S, Naidu, S, Kolodny, E, Percy, A, van der Knaap, M S, Powers, J M, Mantovani, J F, Ekstein, J, Goldman, J E, Messing, A & Brenner, M 2012, ' Splice site, frameshift, and chimeric GFAP mutations in Alexander disease ', Human Mutation, vol. 33, no. 7, pp. 1141-1148 . https://doi.org/10.1002/humu.22094
Human mutation, 33(7), 1141-1148. Wiley-Liss Inc.
Human Mutation, 33(7), 1141-1148. Wiley-Liss Inc.مصطلحات موضوعية: Adult, Male, RNA Splicing, Article, Frameshift mutation, Exon, Glial Fibrillary Acidic Protein, Genetics, medicine, Intermediate Filament Protein, Coding region, Humans, Intermediate filament, Frameshift Mutation, Gene, Genetics (clinical), Glial fibrillary acidic protein, biology, Infant, Newborn, Infant, SDG 10 - Reduced Inequalities, medicine.disease, Molecular biology, Alexander disease, Astrocytes, Mutation, biology.protein, Female, Alexander Disease
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المؤلفون: Albee, Messing, Rong, Li, Sakkubai, Naidu, J Paul, Taylor, Lital, Silverman, Daniel, Flint, Marjo S, van der Knaap, Michael, Brenner
المصدر: Archives of neurology. 69(2)
مصطلحات موضوعية: Adult, Male, Muscle Weakness, DNA Mutational Analysis, DNA, Middle Aged, Magnetic Resonance Imaging, Polymorphism, Single Nucleotide, Article, Pedigree, Young Adult, Glial Fibrillary Acidic Protein, Mutation, Humans, Family, Female, Alexander Disease, Age of Onset, Micronucleus, Germline, Gait Disorders, Neurologic, Aged
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::b5d0b2584d2dd8e96876ecf4500d74da
https://pubmed.ncbi.nlm.nih.gov/21987397 -
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المؤلفون: Paolo Galluzzi, Andrew Lee, Maria Teresa Dotti, Silvia Bianchi, J. Raphael Gorospe, Antonio Federico, Daniel Flint, Camilla D'Eramo, Michael Brenner, Sakkubai Naidu, R. Buccoliero
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Psychomotor retardation, Leukodystrophy, Biology, medicine.disease, Corpus callosum, Penetrance, Article, Alexander disease, Lateral ventricles, Atrophy, Neurology, medicine, Missense mutation, Neurology (clinical), medicine.symptom
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11b8a3b67336848eb38eb6290cd5f50d
http://hdl.handle.net/11365/19506 -
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المؤلفون: Daniel Flint, Michael Brenner, Marjo S. van der Knaap, Rong Li, Lital Silverman, J. Paul Taylor, Albee Messing, Sakkubai Naidu
المصدر: Archives of Neurology. 69:208
مصطلحات موضوعية: Genetics, Genetic counseling, Germline mosaicism, Disease, Biology, medicine.disease, Phenotype, Germline, Alexander disease, Arts and Humanities (miscellaneous), Mutation (genetic algorithm), medicine, Neurology (clinical), Age of onset
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b9db2ed4cd2f87b6b0a9c94d13496a42
https://doi.org/10.1001/archneurol.2011.1181 -
9مورد إلكتروني
المؤلفون: Blocker, Christopher Phillips
المساهمون: Flint, Daniel (Sonstige beteiligte Personen); Boutin, Philip (Sonstige beteiligte Personen)
المصدر: 2012