Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Laura J. Stoppel"'
Autor:
Laura J. Stoppel, Benjamin D. Auerbach, Rebecca K. Senter, Anthony R. Preza, Robert J. Lefkowitz, Mark F. Bear
Publikováno v:
Cell Reports, Vol 18, Iss 12, Pp 2807-2814 (2017)
Synaptic protein synthesis is essential for modification of the brain by experience and is aberrant in several genetically defined disorders, notably fragile X (FX), a heritable cause of autism and intellectual disability. Neural activity directs loc
Externí odkaz:
https://doaj.org/article/78ddbfd20cf341f5b1e3f6be919e30eb
Autor:
Jon M. Madison, Patrick K. McCamphill, David C. Stoppel, Xi Shi, Michael C. Lewis, Katie A. Collins, Mark F. Bear, Florence F. Wagner, Edward M. Scolnick, Vinay Sridhar, Rebecca K Senter, Kimberly M. Huber, Jen Q. Pan, Arnold J. Heynen, Jeffrey R. Cottrell, Laura J. Stoppel, Edward B. Holson
Publikováno v:
Sci Transl Med
PMC
PMC
Copyright © 2020 The Authors, some rights reserved. Fragile X syndrome is caused by FMR1 gene silencing and loss of the encoded fragile X mental retardation protein (FMRP), which binds to mRNA and regulates translation. Studies in the Fmr1-/y mouse
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8122766232f611e1a4cab76f0622ee16
https://doi.org/10.1126/scitranslmed.aam8572
https://doi.org/10.1126/scitranslmed.aam8572
Autor:
Melanie D. Schaffler, Arnold J. Heynen, Mark F. Bear, Jacqueline N. Crawley, Tatiana M. Kazdoba, Laura J. Stoppel, Anthony R. Preza
Publikováno v:
Nature
Neuropsychopharmacology
Neuropsychopharmacology
Human chromosome 16p11.2 microdeletion is among the most common gene copy number variations (CNVs) known to confer risk for intellectual disability (ID) and autism spectrum disorder (ASD) and affects an estimated 3 in 10 000 people. Caused by a singl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::621e57ff53fff628a20b45446f4fd515
https://hdl.handle.net/1721.1/126513
https://hdl.handle.net/1721.1/126513
Autor:
Laura J. Stoppel, Benjamin D. Auerbach, Rebecca K Senter, Robert J. Lefkowitz, Mark F. Bear, Anthony R. Preza
Publikováno v:
Elsevier
Cell Reports, Vol 18, Iss 12, Pp 2807-2814 (2017)
Cell Reports, Vol 18, Iss 12, Pp 2807-2814 (2017)
Synaptic protein synthesis is essential for modification of the brain by experience and is aberrant in several genetically defined disorders, notably fragile X (FX), a heritable cause of autism and intellectual disability. Neural activity directs loc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f32c9bc67ff45933f6c758c59a3f41d8
https://orcid.org/0000-0001-6673-4988
https://orcid.org/0000-0001-6673-4988
Autor:
Han Bao, Mark F. Bear, Tamir Ben-Hur, Nissim Benvenisty, Elizabeth Berry-Kravis, Aditi Bhattacharya, Pietro Chiurazzi, Jeffrey Cohen, Lynda El-Hassar, Douglas W. Ethell, Andreas Frick, Christine M. Gall, Fabrizio Gasparini, Inbal Gazy, Melanie Ginger, Christina Gross, Jacalyn Guy, Randi Hagerman, Becky Hardiman, Charles Hoeffer, Jessica E. Hunter, Molly M. Huntsman, Aia E. Jønch, Sébastien Jacquemont, Peng Jin, Richard S. Jope, Leonard K. Kaczmarek, Peter Kind, R. Frank Kooy, Julie C. Lauterborn, Andrew Ligsay, Lothar Lindemann, Olivier J.J. Manzoni, Henry G.S. Martin, Montserrat Milà, David L. Nelson, Giovanni Neri, Daniela Neuhofer, Emily K. Osterweil, Jörg Richstein, Michael R. Santoro, Gaia Scerif, Sebastian S. Scharf, Stephanie L. Sherman, Harpreet Sidhu, Will Spooren, Laura J. Stoppel, Joshua Suhl, Elisabetta Tabolacci, Flora Tassone, Sally Till, Karen Usdin, Dan Vershkov, Stephen T. Warren, Rob Willemsen, Xiao-Nan Zhao
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d3e6c849b4f83ac11b71cbc2abf0a3bb
https://doi.org/10.1016/b978-0-12-804461-2.00026-3
https://doi.org/10.1016/b978-0-12-804461-2.00026-3
Contribution of mGluR5 to pathophysiology in a mouse model of human chromosome 16p11.2 microdeletion
Autor:
Mark F. Bear, Di Tian, Arnold J. Heynen, Laura J. Stoppel, Lothar Lindemann, Alea A. Mills, Georg Jaeschke
Publikováno v:
Nature neuroscience
Human chromosome 16p11.2 microdeletion is the most common gene copy number variation in autism, but the synaptic pathophysiology caused by this mutation is largely unknown. Here we show using a mouse with the same genetic deficiency that metabotropic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7aeb9d5e392e1a1c49811f630929915a
https://doi.org/10.1038/nn.3911
https://doi.org/10.1038/nn.3911