The dihydropyrimidine dehydrogenase gene contributes to heritable differences in sleep in mice

Autor: W. Timothy O'Brien, Olivia J. Veatch, Elissa J. Chesler, Karen L. Svenson, Xiaofeng Guo, Lin Zhang, Brendan T. Keenan, Raymond J. Galante, Jie Lian, Allan I. Pack, Gary A. Churchill

Publikováno v: Curr Biol

Summary Many aspects of sleep are heritable, but only a few sleep-regulating genes have been reported. Here, we leverage mouse models to identify and confirm a previously unreported gene affecting sleep duration—dihydropyrimidine dehydrogenase (Dpy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc7cbce72dd29e5c2d1883d35e75d1c2
https://pubmed.ncbi.nlm.nih.gov/34653361

Dihydropyrimidine Dehydrogenase Regulates Sleep and Wake in Mice

Autor: Brendan T. Keenan, Raymond J. Galante, Jie Lian, Lin Zhang, Xiaofeng Guo, Olivia J. Veatch, Elissa J. Chesler, W. Timothy O’Brien, Karen L. Svenson, Gary A. Churchill, Allan I. Pack

Publikováno v: SSRN Electronic Journal.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::578692ee68036c457e491926646c8f73
https://doi.org/10.2139/ssrn.3891057

Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function

Autor: Elena Gardella, Damir Musaev, Cecilia Vitali, Emanuele Agolini, Sumeet A. Khetarpal, Kimiyo Raymond, Daniel J. Rader, Camilla Gøbel Madsen, Valentina Stanley, Antonio Novelli, Andrew C. Edmondson, W. Timothy O'Brien, Heiko Reutter, John Hintze, Kristen Liedtke, Mahmoud Y. Issa, Lars Hansen, Christina Fenger, Kevin Rostasy, Rami Abou Jamra, Maha S. Zaki, Francesca Romana Lepri, Ulla E. Petäjä-Repo, Joseph G. Gleeson, Rikke S. Møller, Silvana Briuglia, Katrine T. Schjoldager, Lorenzo Sinibaldi, Viola Alesi, Guido Rubboli, Raffaella Cusmai, Monica Zilmer

Publikováno v: Brain
Zilmer, M, Edmondson, A C, Khetarpal, S A, Alesi, V, Zaki, M S, Rostasy, K, Madsen, C G, Lepri, F R, Sinibaldi, L, Cusmai, R, Novelli, A, Issa, M Y, Fenger, C D, Jamra, R A, Reutter, H, Briuglia, S, Agolini, E, Hansen, L, Petäjä-Repo, U E, Hintze, J, Raymond, K M, Liedtke, K, Stanley, V, Musaev, D, Gleeson, J G, Vitali, C, O’Brien, W T, Gardella, E, Rubboli, G, Rader, D J, Schjoldager, K T & Møller, R S 2020, ' Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function ', Brain, vol. 143, no. 4, pp. 1114-1126 . https://doi.org/10.1093/brain/awaa063

Congenital disorders of glycosylation are a growing group of rare genetic disorders caused by deficient protein and lipid glycosylation. Here, we report the clinical, biochemical, and molecular features of seven patients from four families with GALNT

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92a69c26d8205f2d4c42003940e13c92
https://europepmc.org/articles/PMC7534148/

Adult hippocampal neurogenesis is not necessary for the response to lithium in the forced swim test

Autor: Pamela Burgess-Jones, Brianna Ciesielski, Amelia J. Eisch, Peter S. Klein, Giulia Zanni, Melinda Snitow, W. Timothy O'Brien

Publikováno v: Neurosci Lett

Chronic lithium treatment stimulates adult hippocampal neurogenesis, but whether increased neurogenesis contributes to its therapeutic mechanism remains unclear. We use a genetic model of neural progenitor cell (NPC) ablation to test whether a lithiu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7704ef2e732b98e7f7b7ac401530f922
https://pubmed.ncbi.nlm.nih.gov/30940476

Delivery of an Adeno-Associated Virus Vector into Cerebrospinal Fluid Attenuates Central Nervous System Disease in Mucopolysaccharidosis Type II Mice

Autor: Jean-Pierre Louboutin, Tamara Goode, Nathan Katz, Hongwei Yu, Mohamad Nayal, James M. Wilson, Christian Hinderer, Karen Kozarsky, W. Timothy O'Brien, Peter Bell

Publikováno v: Human Gene Therapy. 27:906-915

Mucopolysaccharidosis type II (MPS II) is a rare X-linked genetic disorder caused by deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS), leading to impaired catabolism of ubiquitous polysaccharides and abnormal accumulation of these undeg

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cb24fbf77865f6815a19b2242b2f756
https://doi.org/10.1089/hum.2016.101