المؤلفون: Susana Genti-Raimondi, Graciela M. Panzetta-Dutari, Magali E. Ridano, Jésica Flores-Martín, Luciana Reyna

المصدر: Free Radical Biology and Medicine. 99:286-295

مصطلحات موضوعية: 0301 basic medicine, Calnexin, Glucose-regulated protein, Eukaryotic Initiation Factor-2, Cell, Endoplasmic Reticulum, Biochemistry, eIF-2 Kinase, 0302 clinical medicine, Homeostasis, RNA, Small Interfering, Endoplasmic Reticulum Chaperone BiP, Heat-Shock Proteins, biology, ROS, Hep G2 Cells, ER STRESS, Intracellular lipid transport, Catalase, Endoplasmic Reticulum Stress, Mitochondria, Cell biology, medicine.anatomical_structure, 030220 oncology & carcinogenesis, STARD7, Phosphatidylcholines, CIENCIAS NATURALES Y EXACTAS, Signal Transduction, Otras Ciencias Biológicas, Protein Serine-Threonine Kinases, HEPG2, Ciencias Biológicas, 03 medical and health sciences, Downregulation and upregulation, Physiology (medical), Endoribonucleases, medicine, Humans, Endoplasmic reticulum, Autophagy, Biological Transport, Hydrogen Peroxide, Molecular biology, 030104 developmental biology, Gene Expression Regulation, Proteolysis, biology.protein, Unfolded protein response, Tumor Suppressor Protein p53, Carrier Proteins, Reactive Oxygen Species, Heme Oxygenase-1

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59fd3548516e9987886be08b8e01014eTest
https://doi.org/10.1016/j.freeradbiomed.2016.08.023Test

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 Group

مصطلحات 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

المؤلفون: Lawrence W. Chamley, Susana Genti-Raimondi, María A. Perillo, Julieta M. Sánchez, Sofía Angeletti

المصدر: Biochimica et Biophysica Acta (BBA) - Biomembranes. 1818:425-433

مصطلحات موضوعية: STARD7, Otras Ciencias Biológicas, TROPHOBLAST SYNCYTIALISATION, Lipid Bilayers, Static Electricity, STEADY STATE FLUORESCENCE DE-QUENCHING, Biophysics, Giant Cells, Membrane Fusion, Models, Biological, Biochemistry, Ciencias Biológicas, Cell membrane, chemistry.chemical_compound, Steady state fluorescence de-quenching, medicine, Humans, Lipid bilayer phase behavior, Lipid Transport, Membrane Fusion Proteins, Phosphatidylethanolamine, Liposome, Chemistry, Bilayer, Cell Membrane, StarD7, Cell Biology, Bilayer fusion, Recombinant Proteins, Crystallography, medicine.anatomical_structure, Förster resonance energy transfer, BILAYER FUSION, Liposomes, FRET, Dynamic light scattering, Carrier Proteins, DYNAMIC LIGHT SCATTERING, CIENCIAS NATURALES Y EXACTAS, Trophoblast syncytialisation

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e7e618f14f6f4e1817b0c2269bbe6b9Test
https://doi.org/10.1016/j.bbamem.2011.10.024Test

المؤلفون: Ahmed Magheli, Koh Meng Aw Yong, Robert H. Getzenberg, George J. Netto, Eddy S. Leman, Stefan Hinz

المصدر: Journal of Cellular Biochemistry. 108:1274-1279

مصطلحات موضوعية: Adult, Male, Proteomics, endocrine system diseases, Cell division, STARD7, Biology, urologic and male genital diseases, Biochemistry, Mass Spectrometry, Testicular Neoplasms, Biomarkers, Tumor, medicine, Humans, Protein kinase A, Molecular Biology, Testicular cancer, Aged, Aged, 80 and over, Gel electrophoresis, Nuclear Proteins, Cell Biology, Middle Aged, medicine.disease, Nuclear matrix, Molecular biology, Cyclin-Dependent Kinases, Seminoma, Electrophoresis, Polyacrylamide Gel, Carrier Proteins, Plant lipid transfer proteins

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::526e295da3f125b805f45bac359728c3Test
https://doi.org/10.1002/jcb.22357Test

المؤلفون: Viviana Rena, Susana Genti-Raimondi, Sebastian Marquez, Jésica Flores-Martín, Graciela M. Panzetta-Dutari

المصدر: PLoS ONE
PLoS ONE, Vol 7, Iss 8, p e44152 (2012)

مصطلحات موضوعية: Cellular differentiation, lcsh:Medicine, Pregnancy Proteins, Giant Cells, Biochemistry, Molecular cell biology, Endocrinology, Cell Movement, Gene expression, Morphogenesis, ATP Binding Cassette Transporter, Subfamily G, Member 2, Chorionic Gonadotropin, beta Subunit, Human, Choriocarcinoma, RNA, Small Interfering, lcsh:Science, Phospholipids, Gene knockdown, Multidisciplinary, Cell migration, Cell Differentiation, Transfection, Lipids, Cell biology, Neoplasm Proteins, Up-Regulation, Gene Expression Regulation, Neoplastic, Gene Knockdown Techniques, embryonic structures, Medicine, Research Article, STARD7, DNA transcription, Cell Migration, Biology, Cell Line, Tumor, Humans, Reproductive Endocrinology, Gene Silencing, RNA, Messenger, Cell Proliferation, Endocrine Physiology, Cell growth, lcsh:R, Gene Products, env, Proteins, Molecular biology, lcsh:Q, ATP-Binding Cassette Transporters, Carrier Proteins, Immunostaining, Biomarkers, Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d8630e8caa85e191e74cba6b0c372c3Test
https://pubmed.ncbi.nlm.nih.gov/22952907Test

المؤلفون: Rodrigo Nores, Graciela M. Panzetta-Dutari, Ricardo Fretes, Viviana Rena, Susana Genti-Raimondi, Sofía Angeletti

المصدر: Placenta. 29(5)

مصطلحات موضوعية: STARD7, Term Birth, Syncytiotrophoblasts, Biology, Pregnancy, Chlorocebus aethiops, medicine, Animals, Humans, Tissue Distribution, reproductive and urinary physiology, Cells, Cultured, Syncytium, Messenger RNA, Cytotrophoblast, Choriocarcinoma, Obstetrics and Gynecology, Trophoblast, Cell Differentiation, Hydatidiform Mole, medicine.disease, Molecular biology, Trophoblasts, medicine.anatomical_structure, Reproductive Medicine, embryonic structures, COS Cells, Uterine Neoplasms, Female, Sterol binding, Carrier Proteins, Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1294dc94c859ac0d9c2c9879a40ea7b4Test
https://pubmed.ncbi.nlm.nih.gov/18378304Test