Zobrazeno 1 - 10
of 38
pro vyhledávání: '"Stephen Amato"'
Autor:
Zhonghua Gu, Hope Northrup, Kevin Larimore, Deborah A. Bilder, Joy Olbertz, Cary O. Harding, Prism investigators, Soumi Gupta, Haoling H. Weng, Jerry Vockley, Markus Merilainen, Stephen Amato, Joy Jiang, Janet A. Thomas, Roberto T. Zori, Harvey L. Levy, David Dimmock
Publikováno v:
Molecular Genetics and Metabolism. 124:27-38
Background Phenylketonuria (PKU) is caused by phenylalanine hydroxylase (PAH) deficiency that results in phenylalanine (Phe) accumulation. Pegvaliase, PEGylated recombinant Anabaena variabilis phenylalanine ammonia lyase (PAL), converts Phe to trans-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44da0511607a58e18fbb768d234190f5
https://doi.org/10.1016/j.ymgme.2018.03.006
https://doi.org/10.1016/j.ymgme.2018.03.006
Autor:
Vladimir Kradinov, Matthew R. Smith, Harland W. Epps, Henry Bergner, John C. Geary, Deborah Freedman Woods, Patricia Brennan, Daniel G. Fabricant, Robert G. Fata, Brian McLeod, Warren R. Brown, Stephen Amato, Jack Barberis, Mark Mueller, Joseph Zajac, Igor Chilingarian, Thomas Gauron
Binospec is a high throughput, 370 to 1000 nm, imaging spectrograph that addresses two adjacent 8' by 15' fields of view. Binospec was commissioned in late 2017 at the f/5 focus of the 6.5m MMT and is now available to all MMT observers. Aperture mask
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dac3b428b656536253cfad05a7240f48
http://arxiv.org/abs/1905.03320
http://arxiv.org/abs/1905.03320
Autor:
R. Stephen Amato, Zhonghua Gu, Mary Stuy, Nicola Longo, Prism investigators, John Posner, Jerry Vockley, Markus Merilainen, Barbara K. Burton, Joy Jiang, Haoling H. Weng, Cary O. Harding
Publikováno v:
Molecular genetics and metabolism. 124(1)
Pegvaliase is a recombinant Anabaena variabilis phenylalanine ammonia lyase (PAL) enzyme under investigation for treatment of adult phenylketonuria (PKU). This manuscript describes results of a randomized discontinuation trial (RDT) designed to evalu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8dd88350974df09bd40c2ffb3b63ec6
https://pubmed.ncbi.nlm.nih.gov/29628378
https://pubmed.ncbi.nlm.nih.gov/29628378
Publikováno v:
Neuropharmacology. 95:144-153
Resveratrol is a phytoalexin that confers overall health benefits including positive regulation in brain function such as learning and cognition. However, whether and how resveratrol affects synaptic activity remains largely unknown. α-amino-3-hydro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d412ee499b2404e6a1ac3fa9cc92ed43
https://doi.org/10.1016/j.neuropharm.2015.03.003
https://doi.org/10.1016/j.neuropharm.2015.03.003
Publikováno v:
American Journal of Medical Genetics Part A. 167:1796-1806
Despite remarkable progress in identifying causal genes for many types of genetic lipodystrophies in the last decade, the molecular basis of many extremely rare lipodystrophy patients with distinctive phenotypes remains unclear. We conducted whole ex
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::606aeb1cf891e8dc5f55583f75846595
https://doi.org/10.1002/ajmg.a.37115
https://doi.org/10.1002/ajmg.a.37115
Autor:
Daniel G. Fabricant, John Roll, David R. Weaver, Dylan Curley, Maureen A. Conroy, Matthew L. N. Ashby, Brian A. McLeod, Nelson Caldwell, David J. Osip, John C. Geary, Andrew Szentgyorgyi, Povilas Palunas, Thomas Gauron, Timothy Norton, Stephen Amato, Matthew J. Holman, Mario R. Pieri, Mark Ordway, Joseph Zajac
Publikováno v:
Publications of the Astronomical Society of the Pacific. 127:366-382
Megacam is a large-format optical camera that can be operated at the f/5 Cassegrain foci of the MMT on Mount Hopkins, Arizona, and the Magellan Clay telescope at Las Campanas Observatory, Chile. Megacam's focal plane is composed of 36 closely packed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f814db2f13e6f381982716f64c920657
https://doi.org/10.1086/680687
https://doi.org/10.1086/680687
Autor:
Abby K. Stevens, Pawel Stankiewicz, Amy M. Breman, Aleksandar Milosavljevic, Carlos A. Bacino, Tomasz Gambin, Lindsay E. Elton, Satish Agadi, Christian P. Schaaf, Jill A. Rosenfeld, Lisa Ximena Rodríguez Rojas, Sung Hae L. Kang, David Francis, Daryl A. Scott, Michael Y. Divon, Sau Wai Cheung, James R. Lupski, Piotr Dittwald, Stephen Amato, Anna Gambin, Ankita Patel, Chad A. Shaw, Jian Li, Wilfredo Torres-Martinez, Seema R. Lalani, Przemyslaw Szafranski, Weimin Bi, Arthur L. Beaudet
Publikováno v:
Genome Research. 23:1395-1409
We delineated and analyzed directly oriented paralogous low-copy repeats (DP-LCRs) in the most recent version of the human haploid reference genome. The computationally defined DP-LCRs were cross-referenced with our chromosomal microarray analysis (C
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1a8a0b9a024f3e8b77e2804316b66e4
https://doi.org/10.1101/gr.152454.112
https://doi.org/10.1101/gr.152454.112
Autor:
Maureen A. Conroy, John C. Geary, Henry Bergner, Michael Burke, Igor Chilingarian, Warren R. Brown, Joseph Zajac, Dylan Curley, Tim Norton, Anne Matthews, Gabor Furesz, Justin Holwell, Harland W. Epps, Paul Martini, George Nystrom, John Roll, Daniel G. Fabricant, Stephen Amato, Ken McCracken, Edward Hertz, Sang Park, Brian McLeod
Publikováno v:
Publications of the Astronomical Society of the Pacific. 124:1318-1335
The MMT and Magellan infrared spectrograph (MMIRS) is a cryogenic multiple-slit spectrograph operating in the wavelength range 0.9-2.4 μm. The refractive optics of MMIRS offer a 6'.9 × 6'.9 field of view for imaging with a spatial resolution of 0.2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e0cbb3dfb24266c3312c58bd6a5a2750
https://doi.org/10.1086/669044
https://doi.org/10.1086/669044
Autor:
Henry Bergner, Gabor Furesz, Peter Cheimets, Andrea K. Dupree, S. Meibom, John C. Geary, Lee Hartmann, Richard E. Goddard, Joseph Zajac, John Roll, Thomas Gauron, Szabolcz Meszaros, Maureen A. Conroy, Douglas J. Mink, Stephen Amato, Nelson Caldwell, Daniel G. Fabricant, Roger Eng, William F. Wyatt, Mario R. Pieri, Harland W. Epps, Everett Johnston, Brian McLeod, Andrew Szentgyorgyi, Robert G. Fata, Susan Tokarz
Publikováno v:
Publications of the Astronomical Society of the Pacific. 123:1188-1209
The Hectochelle is an optical band, fiber-fed, multiobject echelle spectrograph deployed at the MMT Observatory on Mount Hopkins, Arizona. The optical fibers that feed the Hectochelle are positioned by the Hectospec robot positioner on the MMT f/5 fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::78ac197a18784f72df5bd6c58cdd4483
https://doi.org/10.1086/662209
https://doi.org/10.1086/662209
Publikováno v:
Science. 332:247-251
Axon-dendrite polarization is crucial for neural network wiring and information processing in the brain. Polarization begins with the transformation of a single neurite into an axon and its subsequent rapid extension, which requires coordination of c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74e4a98a57d0ad9793de9a8a8ef66708
https://doi.org/10.1126/science.1201678
https://doi.org/10.1126/science.1201678