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المصدر: Frontiers in Endocrinology, Vol 11 (2020)
Frontiers in Endocrinologyمصطلحات موضوعية: 0301 basic medicine, Polyadenylation, STARD7, RNA Splicing, Endocrinology, Diabetes and Metabolism, Gene Expression, 030209 endocrinology & metabolism, Review, Mitochondrion, lcsh:Diseases of the endocrine glands. Clinical endocrinology, 03 medical and health sciences, Endocrinology, 0302 clinical medicine, Lipid droplet, Gene expression, Animals, Humans, sm-FISH, RNA, Messenger, SIK1, Messenger RNA, lcsh:RC648-665, Chemistry, Cholesterol, HDL, Translation (biology), Phosphoproteins, Mitochondria, Molecular Imaging, Cell biology, CRTC2, Cholesterol, 030104 developmental biology, cholesterol trafficking, nascent HDL formation, Mitochondrial Membranes, RNA splicing, START proteins
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b28efb520504ad72767c46d8f993378aTest
https://www.frontiersin.org/articles/10.3389/fendo.2020.559674/fullTest -
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المؤلفون: Bockelmann, Svenja, Mina, John G M, Korneev, Sergei, Hassan, Dina G, Mueller, Dagmar, Hilderink, Angelika, Vlieg, Hedwich C, Raijmakers, Reinout, Heck, Albert J R, Haberkant, Per, Holthuis, Joost C M, Biomolecular Mass Spectrometry and Proteomics, Crystal and Structural Chemistry, Sub Crystal and Structural Chemistry, Sub Biomol.Mass Spectrometry & Proteom., Afd Biomol.Mass Spect. and Proteomics
المساهمون: Biomolecular Mass Spectrometry and Proteomics, Crystal and Structural Chemistry, Sub Crystal and Structural Chemistry, Sub Biomol.Mass Spectrometry & Proteom., Afd Biomol.Mass Spect. and Proteomics
المصدر: Journal of Lipid Research, Vol 59, Iss 3, Pp 515-530 (2018)
Journal of Lipid Research, 59(3), 515. American Society for Biochemistry and Molecular Biology Inc.مصطلحات موضوعية: 0301 basic medicine, Ceramide, STARD7, Ceramide binding, QD415-436, Ceramides, Biochemistry, 03 medical and health sciences, chemistry.chemical_compound, Endocrinology, Humans, Binding site, phosphatidylcholine, Research Articles, Ceramide Transfer Protein, steroidogenic acute regulatory protein D7, Photoaffinity labeling, Steroidogenic acute regulatory protein, Cell Biology, lipid transfer protein, Lipids, Cell biology, mitochondria, ceramide transfer protein, 030104 developmental biology, chemistry, click chemistry, Carrier Proteins, Plant lipid transfer proteins, ceramidetransfer protein, photoaffinity labeling, HeLa Cells
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7faba9600e0ba307383cb1ae6b051424Test
http://www.sciencedirect.com/science/article/pii/S0022227520331394Test -
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المؤلفون: Christiaan van Ooij, Michael J. Blackman, Ross J. Hill, Ellen Knuepfer, Alessa Ringel, Robert W. Moon
المصدر: The Journal of Biological Chemistry
مصطلحات موضوعية: 0301 basic medicine, Signal peptide, STARD7, parasitology, Protein domain, Plasmodium falciparum, Phospholipid, malaria, Protozoan Proteins, Biological Transport, Active, Mitochondrion, Biochemistry, 03 medical and health sciences, chemistry.chemical_compound, Protein Domains, Phospholipid transfer protein, parasitic diseases, Plasmodium knowlesi, Phospholipid Transfer Proteins, Molecular Biology, phospholipid, Phospholipids, lipid transport, biology, Cell Biology, biology.organism_classification, Lipids, 3. Good health, Cell biology, 030104 developmental biology, chemistry, plasmodium
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab926afef71a92166b91bac55e763f1aTest
http://europepmc.org/articles/PMC5104948Test -
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المؤلفون: Marina A. J. Tijssen, Mark A. Corbett, Zaid Afawi, Paolo Tinuper, Shoji Tsuji, Rachel Straussberg, Ilan Blatt, Samuel F. Berkovic, Francesco Brancati, Amy L Schneider, Lynette G. Sadleir, Sanjay M. Sisodiya, Renzo Guerrini, Shreyasee Chakraborty, Alfredo Berardelli, Silvana Franceschetti, Jozef Gecz, Luciano Xumerle, Pierre Labauge, Liana Veneziano, Simona Balestrini, Ingo Helbig, Martin A. Smith, Laura Canafoglia, Carlo Di Bonaventura, Hiroyuki Ishiura, Boris Keren, Manuela Pendziwiat, Rahel T. Florian, Sylvie Forlani, Anne Fleur van Rootselaar, Giorgio Casari, Christel Depienne, Tommaso Pippucci, Douglas E. Crompton, Edouard Hirsch, Davide Mei, Laura Licchetta, Renee Carroll, Riaan van Coller, Ingrid E. Scheffer, Thessa Kroes, Pasquale Striano, Brigid M. Regan, Francesca Bisulli, Shaun Carswell, Antonio Suppa, Julien Buratti, Karl Martin Klein, Alison Gardner, Caroline Nava, Federico Zara, Melanie Bahlo, Sabine Kaya, Kathryn Friend, Antonietta Coppola, Massimo Delledonne, Aaron M. Wenger, Anthony Correll, Sara Baldassari, Arn M. J. M. van den Maagdenberg, Eric LeGuern, Rachael Catford, Gabrielle Rudolf, Salvatore Striano, Mark F. Bennett, Josemir W. Sander, Kirston Barton, Michele Iacomino
المساهمون: Corbett M.A., Kroes T., Veneziano L., Bennett M.F., Florian R., Schneider A.L., Coppola A., Licchetta L., Franceschetti S., Suppa A., Wenger A., Mei D., Pendziwiat M., Kaya S., Delledonne M., Straussberg R., Xumerle L., Regan B., Crompton D., van Rootselaar A.-F., Correll A., Catford R., Bisulli F., Chakraborty S., Baldassari S., Tinuper P., Barton K., Carswell S., Smith M., Berardelli A., Carroll R., Gardner A., Friend K.L., Blatt I., Iacomino M., Di Bonaventura C., Striano S., Buratti J., Keren B., Nava C., Forlani S., Rudolf G., Hirsch E., Leguern E., Labauge P., Balestrini S., Sander J.W., Afawi Z., Helbig I., Ishiura H., Tsuji S., Sisodiya S.M., Casari G., Sadleir L.G., van Coller R., Tijssen M.A.J., Klein K.M., van den Maagdenberg A.M.J.M., Zara F., Guerrini R., Berkovic S.F., Pippucci T., Canafoglia L., Bahlo M., Striano P., Scheffer I.E., Brancati F., Depienne C., Gecz J., Neurology, ANS - Brain Imaging, Movement Disorder (MD), Corbett, M. A., Kroes, T., Veneziano, L., Bennett, M. F., Florian, R., Schneider, A. L., Coppola, A., Licchetta, L., Franceschetti, S., Suppa, A., Wenger, A., Mei, D., Pendziwiat, M., Kaya, S., Delledonne, M., Straussberg, R., Xumerle, L., Regan, B., Crompton, D., van Rootselaar, A. -F., Correll, A., Catford, R., Bisulli, F., Chakraborty, S., Baldassari, S., Tinuper, P., Barton, K., Carswell, S., Smith, M., Berardelli, A., Carroll, R., Gardner, A., Friend, K. L., Blatt, I., Iacomino, M., Di Bonaventura, C., Striano, S., Buratti, J., Keren, B., Nava, C., Forlani, S., Rudolf, G., Hirsch, E., Leguern, E., Labauge, P., Balestrini, S., Sander, J. W., Afawi, Z., Helbig, I., Ishiura, H., Tsuji, S., Sisodiya, S. M., Casari, G., Sadleir, L. G., van Coller, R., Tijssen, M. A. J., Klein, K. M., van den Maagdenberg, A. M. J. M., Zara, F., Guerrini, R., Berkovic, S. F., Pippucci, T., Canafoglia, L., Bahlo, M., Striano, P., Scheffer, I. E., Brancati, F., Depienne, C., Gecz, J.
المصدر: Nature communications 10 (2019): 1–10. doi:10.1038/s41467-019-12671-y
info:cnr-pdr/source/autori:Corbett M. A.; KroesT.; Veneziano L.; Bennett M. F.; Florian R.; Schneider A. L.; Coppola A.; Licchetta L.; Franceschetti S.; Suppa A.; Wenger A.; Mei D.; Pendziwiat M.; Kaya S.; Delledonne M.; Straussberg R.; Xumerle L.; Regan B; Crompton D.; van Rootselaar A. F.; Correll A.; Catford R.; Bisulli F.; Chakraborty S.; Baldassari S.; Tinuper P.; Barton K.; Carswell S.; Smith M.; Berardelli A.; Carroll R.; Gardner A.; Friend K. L.; Blatt I.; Iacomino M.; Di Bonaventura C.; Striano S.; Buratti J.; Keren B.; Nava C.; Forlani S.; Rudolf G.; Hirsch E.; Leguern E.; Labauge P.; Balestrini S.; Sander J. W.; Afawi Z.; Helbig I.; Ishiura H.; Tsuji S.; Sisodiya S. M.; Casari G.; Sadleir L. G.; van Coller R.; Tijssen M. A. J.; Klein K. M.; van den Maagdenberg A. M. J. M.; Zara F.; Guerrini R.; Berkovic S. F.; Pippucci T.; Canafoglia L.; Bahlo M.; Striano P.; Scheffer I. E.; Brancati F.; Depienne C.; Gecz J./titolo:Intronic ATTTC repeat expansions in STARD7 in fam ilial adult myoclonic epilepsy linked to chromosome 2/doi:10.1038%2Fs41467-019-12671-y/rivista:Nature communications/anno:2019/pagina_da:1/pagina_a:10/intervallo_pagine:1–10/volume:10
Nature Communications
Nature communications, 10(1):4920. Nature Publishing Group
Nature Communications, Vol 10, Iss 1, Pp 1-10 (2019)
Nature Communications, 10. NATURE PUBLISHING GROUP
Nature Communications, 10(1):4920. Nature Publishing Groupمصطلحات موضوعية: 0301 basic medicine, Male, Myoclonus, Medizin, General Physics and Astronomy, Epilepsies, Myoclonic, Epilepsies, Intronic variant, repeat expansions,STARD7, familial adult myoclonic epilepsy, chromosome 2, Epilepsy, 0302 clinical medicine, DOMINANT CORTICAL TREMOR, EXPRESSION ANALYSIS, PEDIGREE, LOCUS, LINKAGE, GENE, 2P11.1-Q12.2, REFINEMENT, MUTATION, BAFME, lcsh:Science, Child, Genetics, Multidisciplinary, DNA Repeat Expansion, Disease genetics, Chromosome Mapping, Middle Aged, Pedigree, Myoclonic Epilepsy, Child, Preschool, Chromosomes, Human, Pair 2, Pair 2, STARD7, Female, Adolescent, Adult, Carrier Proteins, Humans, Young Adult, Introns, Human, Science, Locus (genetics), Biology, Chromosomes, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, medicine, Preschool, Gene, Whole genome sequencing, Intron, Chromosome, General Chemistry, medicine.disease, 030104 developmental biology, Microsatellite instability, Myoclonic epilepsy, lcsh:Q, Familial Adult Myoclonic Epilepsy, Myoclonic, Carrier Protein, 030217 neurology & neurosurgery, Neurological disorders
وصف الملف: ELETTRONICO; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b9341ffcf84a189ee14724c5f929558Test
http://hdl.handle.net/11585/712100Test -
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المؤلفون: Toshiya Endo, Yasushi Tamura
المصدر: The EMBO Journal. 37
مصطلحات موضوعية: 0301 basic medicine, General Immunology and Microbiology, STARD7, Mitochondrial intermembrane space, General Neuroscience, Rhomboid protease, PARL, Intracellular Membranes, Articles, Mitochondrion, Biology, General Biochemistry, Genetics and Molecular Biology, Mitochondria, Cell biology, 03 medical and health sciences, 030104 developmental biology, Inner membrane, Bacterial outer membrane, Inner mitochondrial membrane, Molecular Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a42d0f0937005ba5df01f966b92b3fcTest
https://doi.org/10.15252/embj.201898993Test -
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المؤلفون: Li Yang, Shiyu Luo, David Wu, Simon P. Hogan, Timothy E. Weaver, Taosheng Huang, Cheng-Lun Na
المصدر: Scientific Reports
مصطلحات موضوعية: 0301 basic medicine, Mitochondrial DNA, Cellular respiration, STARD7, Cellular homeostasis, Mitochondrion, Mitochondrial Size, DNA, Mitochondrial, Article, Cell Line, Mice, 03 medical and health sciences, Phospholipid transfer protein, Animals, Homeostasis, Mice, Knockout, Multidisciplinary, Chemistry, Phosphatidylcholine transfer protein, Epithelial Cells, Mitochondria, Cell biology, Oxidative Stress, 030104 developmental biology, Carrier Proteins, Reactive Oxygen Species, DNA Damage
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9dda860a46a8dc180bfd9d1054e1437dTest
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المؤلفون: Peixiang Zhang, Chieko Aoyama, Hiroyuki Sugimoto, Hiromi Ando, Karen Reue, Laurent Vergnes, Yasuhiro Horibata, Masahiko Itoh
المصدر: The Journal of biological chemistry. 291(48)
مصطلحات موضوعية: 0301 basic medicine, STARD7, Protein subunit, Phospholipid, Biology, Mitochondrion, Biochemistry, Electron Transport Complex IV, Mitochondrial Proteins, 03 medical and health sciences, chemistry.chemical_compound, Mice, 0302 clinical medicine, Adenosine Triphosphate, Oxygen Consumption, Phosphatidylcholine, Cell Line, Tumor, Organelle, medicine, Animals, Molecular Biology, Cell Biology, medicine.disease, Lipids, Cell biology, Mitochondria, 030104 developmental biology, chemistry, Gene Knockdown Techniques, Phosphatidylcholines, Optic Atrophy 1, Carrier Proteins, 030217 neurology & neurosurgery, Intracellular
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a581a6932d81b967b3bc269a6bee2fdbTest
https://pubmed.ncbi.nlm.nih.gov/27694445Test