نتائج البحث - "Elke Bogaert"

المصدر: Progress in neurobiology
Progress in neurobiology 223 (2023)
PROGRESS IN NEUROBIOLOGY
Progress in neurobiology, 223
Progress in neurobiology, vol. 223, pp. 102386

وصف الملف: text/html; application/pdf; application/octet-stream; Print-Electronic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e268b1fec3551c4f90a3443453adf541
https://hdl.handle.net/10067/1929640151162165141

View record from ScienceDirect

6

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

المؤلفون: Elke Bogaert, Aurore Garde, Thierry Gautier, Kathleen Rooney, Yannis Duffourd, Pontus LeBlanc, Emma van Reempts, Frederic Tran Mau-Them, Ingrid M. Wentzensen, Kit Sing Au, Kate Richardson, Hope Northrup, Vincent Gatinois, David Geneviève, Raymond J. Louie, Michael J. Lyons, Lone Walentin Laulund, Charlotte Brasch-Andersen, Trine Maxel Juul, Fatima El It, Nathalie Marle, Patrick Callier, Raissa Relator, Sadegheh Haghshenas, Haley McConkey, Jennifer Kerkhof, Claudia Cesario, Antonio Novelli, Nicola Brunetti-Pierri, Michele Pinelli, Perrine Pennamen, Sophie Naudion, Marine Legendre, Cécile Courdier, Aurelien Trimouille, Martine Doco Fenzy, Lynn Pais, Alison Yeung, Kimberly Nugent, Elizabeth R. Roeder, Tadahiro Mitani, Jennifer E. Posey, Daniel Calame, Hagith Yonath, Jill A. Rosenfeld, Luciana Musante, Flavio Faletra, Francesca Montanari, Giovanna Sartor, Alessandra Vancini, Marco Seri, Claude Besmond, Karine Poirier, Laurence Hubert, Dimitri Hemelsoet, Arnold Munnich, James R. Lupski, Christophe Philippe, Christel Thauvin-Robinet, Laurence Faivre, Bekim Sadikovic, Jérôme Govin, Bart Dermaut, Antonio Vitobello

المساهمون: Bogaert, Elke, Garde, Aurore, Gautier, Thierry, Rooney, Kathleen, Duffourd, Yanni, Leblanc, Pontu, van Reempts, Emma, Tran Mau-Them, Frederic, Wentzensen, Ingrid M, Au, Kit Sing, Richardson, Kate, Northrup, Hope, Gatinois, Vincent, Geneviève, David, Louie, Raymond J, Lyons, Michael J, Laulund, Lone Walentin, Brasch-Andersen, Charlotte, Maxel Juul, Trine, El It, Fatima, Marle, Nathalie, Callier, Patrick, Relator, Raissa, Haghshenas, Sadegheh, Mcconkey, Haley, Kerkhof, Jennifer, Cesario, Claudia, Novelli, Antonio, Brunetti-Pierri, Nicola, Pinelli, Michele, Pennamen, Perrine, Naudion, Sophie, Legendre, Marine, Courdier, Cécile, Trimouille, Aurelien, Fenzy, Martine Doco, Pais, Lynn, Yeung, Alison, Nugent, Kimberly, Roeder, Elizabeth R, Mitani, Tadahiro, Posey, Jennifer E, Calame, Daniel, Yonath, Hagith, Rosenfeld, Jill A, Musante, Luciana, Faletra, Flavio, Montanari, Francesca, Sartor, Giovanna, Vancini, Alessandra, Seri, Marco, Besmond, Claude, Poirier, Karine, Hubert, Laurence, Hemelsoet, Dimitri, Munnich, Arnold, Lupski, James R, Philippe, Christophe, Thauvin-Robinet, Christel, Faivre, Laurence, Sadikovic, Bekim, Govin, Jérôme, Dermaut, Bart, Vitobello, Antonio

المصدر: AMERICAN JOURNAL OF HUMAN GENETICS

مصطلحات موضوعية: SRSF1, splicing, epigenetic signature, Medicine and Health Sciences, Genetics, Drosophila, neurodevelopmental disorder, Genetics (clinical), haploinsufficiency

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a5551e236309b7081069f46ca7428ec
https://hdl.handle.net/1854/LU-01GYYM7M9B6XFW9NMT6Y4E6XMM

7

Molecular Dissection of FUS Points at Synergistic Effect of Low-Complexity Domains in Toxicity

المؤلفون: Lin Guo, Nathalie Wilmans, Wendy Scheveneels, Frederic Rousseau, Ludo Van Den Bosch, Nicole Hersmus, Jolien Steyaert, Steven Boeynaems, Masato Kato, Patrick Callaerts, Wanda Haeck, Philip Van Damme, James Shorter, Elke Bogaert, Thomas R. Caulfield, Joost Schymkowitz, Wim Robberecht

المصدر: Cell Reports, Vol 24, Iss 3, Pp 529-537.e4 (2018)
Cell Reports
CELL REPORTS

مصطلحات موضوعية: 0301 basic medicine, amyotrophic lateral sclerosis, RNA-binding protein, Protein aggregation, AMYOTROPHIC-LATERAL-SCLEROSIS, Medicine and Health Sciences, Drosophila Proteins, ARGININE METHYLATION, Amyotrophic lateral sclerosis, lcsh:QH301-705.5, Motor Neurons, biology, Frontotemporal lobar degeneration, 3. Good health, Cell biology, Drosophila melanogaster, frontotemporal lobar degeneration, Life Sciences & Biomedicine, Drosophila Protein, RNA-BINDING PROTEINS, Protein domain, Motor Activity, Arginine, General Biochemistry, Genetics and Molecular Biology, Article, protein aggregation, PRION-LIKE DOMAINS, LIQUID DROPLETS, 03 medical and health sciences, Structure-Activity Relationship, prion-like domain, Stress granule, Protein Domains, NUCLEAR IMPORT RECEPTOR, Cell Line, Tumor, medicine, Animals, Humans, Amino Acid Sequence, FUS, FRONTOTEMPORAL LOBAR DEGENERATION, Science & Technology, Heterogeneous-Nuclear Ribonucleoprotein Group F-H, STRESS GRANULES, Biology and Life Sciences, Cell Biology, biology.organism_classification, medicine.disease, intrinsically disordered protein, 030104 developmental biology, lcsh:Biology (General), phase transition, Nerve Degeneration, low-complexity domain, LLPS, ALS, PHASE-SEPARATION

وصف الملف: Print; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ab766b0ff3f6a558838a35333b870a1
http://www.sciencedirect.com/science/article/pii/S2211124718309975

View record from ScienceDirect

8

FUS-induced neurotoxicity in Drosophila is prevented by downregulating nucleocytoplasmic transport proteins

المؤلفون: Philip Van Damme, Ludo Van Den Bosch, Joni Vanneste, Wendy Scheveneels, Patrick Callaerts, Wim Robberecht, Jolien Steyaert, Elke Bogaert

المصدر: Human Molecular Genetics
HUMAN MOLECULAR GENETICS

مصطلحات موضوعية: 0301 basic medicine, Male, Receptors, Cytoplasmic and Nuclear, Apoptosis, Biology, Karyopherins, Protein Aggregation, Pathological, Animals, Genetically Modified, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Medicine and Health Sciences, Gene silencing, Animals, Drosophila Proteins, Humans, Amyotrophic lateral sclerosis, Molecular Biology, Genetics (clinical), Neurons, Crustacean cardioactive peptide, Heterogeneous-Nuclear Ribonucleoprotein Group F-H, Nucleocytoplasmic Transport Proteins, Amyotrophic Lateral Sclerosis, Neuropeptides, Neurotoxicity, Biology and Life Sciences, General Medicine, Motor neuron, medicine.disease, 3. Good health, Cell biology, Nuclear Pore Complex Proteins, 030104 developmental biology, medicine.anatomical_structure, Gene Expression Regulation, Nucleocytoplasmic Transport, Frontotemporal Dementia, Mutation, RNA-Binding Protein FUS, Drosophila, Female, General Article, 030217 neurology & neurosurgery

وصف الملف: Print; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e86f291646196c1d3b9f9e897afde557
https://pubmed.ncbi.nlm.nih.gov/30379317

9

Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS

المؤلفون: Shuying Sun, Steven Boeynaems, Gregor Bieri, Aaron D. Gitler, Nicholas J. Kramer, Shizuka B. Yamada, Joseph W. Paul, Wim Robberecht, Ludo Van Den Bosch, Joseph R. Herdy, Jerome Mertens, Fred H. Gage, Noori Chai, Ana Jovičić, Elke Bogaert

المصدر: Nature Neuroscience. 18:1226-1229

مصطلحات موضوعية: Genetics, General Neuroscience, Neurodegeneration, DNA Repeat Expansion, Biology, medicine.disease, 3. Good health, C9orf72 Protein, C9orf72, Nucleocytoplasmic Transport, Karyopherins, medicine, Amyotrophic lateral sclerosis, Neuroscience, Frontotemporal dementia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::13a30626f8ed2d1dd229f1607682a08c
https://doi.org/10.1038/nn.4085

Find this article in full text from Springer Verlag.

Find this article in full text from ProQuest

10

A zebrafish model for C9orf72 ALS reveals RNA toxicity as a pathogenic mechanism

المؤلفون: André Bento-Abreu, Mieke Timmers, Ludo Van Den Bosch, Tania F. Gendron, Philip Van Damme, Bart Swinnen, Rik Nuyts, Elke Bogaert, Sarah Mizielinska, Wendy Scheveneels, Leonard Petrucelli, Wim Robberecht, Adrian M. Isaacs, Nicole Hersmus, Steven Boeynaems, Jiou Wang, Robin Lemmens

المصدر: ACTA NEUROPATHOLOGICA
Swinnen, B, Bento-Abreu, A, Gendron, T F, Boeynaems, S, Bogaert, E, Nuyts, R, Timmers, M, Scheveneels, W, Hersmus, N, Wang, J, Mizielinska, S, Isaacs, A M, Petrucelli, L, Lemmens, R, Van Damme, P, Van Den Bosch, L & Robberecht, W 2018, ' A zebrafish model for C9orf72 ALS reveals RNA toxicity as a pathogenic mechanism ', Acta Neuropathologica, vol. 135, no. 3, pp. 427-443 . https://doi.org/10.1007/s00401-017-1796-5
Acta Neuropathologica

مصطلحات موضوعية: 0301 basic medicine, Pur-alpha, Pathology and Forensic Medicine, Pathogenesis, Animals, Genetically Modified, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, C9orf72, Sense (molecular biology), medicine, Medicine and Health Sciences, Escherichia coli, Animals, Humans, Amyotrophic lateral sclerosis, Zebrafish, Motor Neurons, DNA Repeat Expansion, biology, C9orf72 Protein, p62, Amyotrophic Lateral Sclerosis, Gene Transfer Techniques, RNA, Biology and Life Sciences, RNA toxicity, biology.organism_classification, medicine.disease, Axons, Cell biology, Disease Models, Animal, 030104 developmental biology, Toxicity, DPR, Neurology (clinical), ALS, Trinucleotide repeat expansion, 030217 neurology & neurosurgery

وصف الملف: application/pdf; Print-Electronic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d86fd3e52a0910a23f00f360413bafeb
https://pubmed.ncbi.nlm.nih.gov/29302778

Find this article in full text from Springer Verlag.

Find this article in full text from ProQuest

تنقيح النتائج