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A functional link between lariat debranching enzyme and the intron-binding complex is defective in non-photosensitive trichothiodystrophy Townley, Brittany A.; Buerer, Luke; Tsao, Ning; Bacolla, Albino; Mansoori, Fadhel; Rusanov, Timur; Clark, Nathanial; Goodarzi, Negar; Schmidt, Nicolas; Srivatsan, Sridhar Nonavinkere; Sun, Hua; Sample, Reilly A.; Brickner, Joshua R.; McDonald, Drew; Tsai, Miaw-Sheue; Walter, Matthew J.; Wozniak, David F.; Holehouse, Alex S.; Pena, Vladimir; Tainer, John A.; Fairbrother, William G.; Mosammaparast, Nima 分享 收藏
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Endothelial ether lipids link the vasculature to blood pressure, behavior, and neurodegeneration Spears, Larry D.; Adak, Sangeeta; Dong, Guifang; Wei, Xiaochao; Spyropoulos, George; Zhang, Qiang; Yin, Li; Feng, Chu; Hu, Donghua; Lodhi, Irfan J.; Hsu, Fong-Fu; Rajagopal, Rithwick; Noguchi, Kevin K.; Halabi, Carmen M.; Brier, Lindsey; Bice, Annie R.; Lananna, Brian, V; Musiek, Erik S.; Avraham, Oshri; Cavalli, Valeria; Holth, Jerrah K.; Holtzman, David M.; Wozniak, David F.; Culver, Joseph P.; Semenkovich, Clay F. 分享 收藏
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DNMT3A Haploinsufficiency Results in Behavioral Deficits and Global Epigenomic Dysregulation Shared across Neurodevelopmental Disorders Christian, Diana L.; Wu, Dennis Y.; Martin, Jenna R.; Moore, J. Russell; Liu, Yiran R.; Clemens, Adam W.; Nettles, Sabin A.; Kirkland, Nicole M.; Papouin, Thomas; Hill, Cheryl A.; Wozniak, David F.; Dougherty, Joseph D.; Gabel, Harrison W. 分享 收藏
In utero exposure to transient ischemia-hypoxemia promotes long-term neurodevelopmental abnormalities in male rat offspring Palanisamy, Arvind; Giri, Tusar; Jiang, Jia; Bice, Annie; Quirk, James D.; Conyers, Sara B.; Maloney, Susan E.; Raghuraman, Nandini; Bauer, Adam Q.; Garbow, Joel R.; Wozniak, David F. 分享 收藏
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Vulnerability to bipolar disorder is linked to sleep and sleepiness Hensch, Tilman; Wozniak, David; Spada, Janek; Sander, Christian; Ulke, Christine; Wittekind, Dirk Alexander; Thiery, Joachim; Loeffler, Markus; Jawinski, Philippe; Hegerl, Ulrich 分享 收藏
Adipose tissue NAD+ biosynthesis is required for regulating adaptive thermogenesis and whole-body energy homeostasis in mice 脂肪组织NAD生物合成是调节小鼠适应性产热和全身能量稳态所必需的 Yamaguchi, Shintaro; Franczyk, Michael P.; Chondronikola, Maria; Qi, Nathan; Gunawardana, Subhadra C.; Stromsdorfer, Kelly L.; Porter, Lane C.; Wozniak, David F.; Sasaki, Yo; Rensing, Nicholas; Wong, Michael; Piston, David W.; Klein, Samuel; Yoshino, Jun 分享 收藏
ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9 Smeland, Marie F.; McClenaghan, Conor; Roessler, Helen I.; Savelberg, Sanne; Hansen, Geir Asmund Myge; Hjellnes, Helene; Arntzen, Kjell Arne; Mueller, Kai Ivar; Dybesland, Andreas Rosenberger; Harter, Theresa; Sala-Rabanal, Monica; Emfinger, Chris H.; Huang, Yan; Singareddy, Soma S.; Gunn, Jamie; Wozniak, David F.; Kovacs, Attila; Massink, Maarten; Tessadori, Federico; Kamel, Sarah M.; Bakkers, Jeroen; Remedi, Maria S.; Van Ghelue, Marijke; Nichols, Colin G.; van Haaften, Gijs 分享 收藏
Genetic ablation of acid ceramidase in Krabbe disease confirms the psychosine hypothesis and identifies a new therapeutic target 克拉伯病中酸性神经酰胺酶的遗传消融证实了psychosine假说，并确定了新的治疗靶标 Li, Yedda; Xu, Yue; Benitez, Bruno A.; Nagree, Murtaza S.; Dearborn, Joshua T.; Jiang, Xuntian; Guzman, Miguel A.; Woloszynek, Josh C.; Giaramita, Alex; Yip, Bryan K.; Elsbernd, Joseph; Babcock, Michael C.; Lo, Melanie; Fowler, Stephen C.; Wozniak, David F.; Vogler, Carole A.; Medin, Jeffrey A.; Crawford, Brett E.; Sands, Mark S. 分享 收藏
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Characterization of a Mouse Model of Borjeson-Forssman-Lehmann Syndrome Cheng, Cheng; Deng, Pan-Yue; Ikeuchi, Yoshiho; Yuede, Carla; Li, Daofeng; Rensing, Nicholas; Huang, Ju; Baldridge, Dustin; Maloney, Susan E.; Dougherty, Joseph D.; Constantino, John; Jahani-Asl, Arezu; Wong, Michael; Wozniak, David F.; Wang, Ting; Klyachko, Vitaly A.; Bonni, Azad 分享 收藏
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