Zobrazeno 1 - 10
of 153
pro vyhledávání: '"David F, Wozniak"'
Autor:
Hong-Jin Shu, Luke H. Ziolkowski, Sofia V. Salvatore, Ann M. Benz, David F. Wozniak, Carla M. Yuede, Steven M. Paul, Charles F. Zorumski, Steven Mennerick
Publikováno v:
Biomolecules, Vol 14, Iss 3, p 254 (2024)
Brain cholesterol metabolic products include neurosteroids and oxysterols, which play important roles in cellular physiology. In neurons, the cholesterol oxidation product, 24S-hydroxycholesterol (24S-HC), is a regulator of signaling and transcriptio
Externí odkaz:
https://doaj.org/article/8f64cddbe0f843c7a857f9ccbff220df
Autor:
Marie F. Smeland, Conor McClenaghan, Helen I. Roessler, Sanne Savelberg, Geir Åsmund Myge Hansen, Helene Hjellnes, Kjell Arne Arntzen, Kai Ivar Müller, Andreas Rosenberger Dybesland, Theresa Harter, Monica Sala-Rabanal, Chris H. Emfinger, Yan Huang, Soma S. Singareddy, Jamie Gunn, David F. Wozniak, Attila Kovacs, Maarten Massink, Federico Tessadori, Sarah M. Kamel, Jeroen Bakkers, Maria S. Remedi, Marijke Van Ghelue, Colin G. Nichols, Gijs van Haaften
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-19 (2019)
ABCC9 encodes the SUR2 subunit of KATP channels and dominant genetic variants in ABCC9 have been associated with cardiac phenotypes. Here, the authors report recessive ABCC9 mutations in individuals with mild intellectual disability, myopathy and car
Externí odkaz:
https://doaj.org/article/3b16521767fb4e02b8c29af4d1962611
Autor:
Larry D. Spears, Sangeeta Adak, Guifang Dong, Xiaochao Wei, George Spyropoulos, Qiang Zhang, Li Yin, Chu Feng, Donghua Hu, Irfan J. Lodhi, Fong-Fu Hsu, Rithwick Rajagopal, Kevin K. Noguchi, Carmen M. Halabi, Lindsey Brier, Annie R. Bice, Brian V. Lananna, Erik S. Musiek, Oshri Avraham, Valeria Cavalli, Jerrah K. Holth, David M. Holtzman, David F. Wozniak, Joseph P. Culver, Clay F. Semenkovich
Publikováno v:
Journal of Lipid Research, Vol 62, Iss , Pp 100079- (2021)
Vascular disease contributes to neurodegeneration, which is associated with decreased blood pressure in older humans. Plasmalogens, ether phospholipids produced by peroxisomes, are decreased in Alzheimer's disease, Parkinson's disease, and other neur
Externí odkaz:
https://doaj.org/article/a4a46b80f32646ea94b6e4c85fe531fe
Publikováno v:
npj Aging and Mechanisms of Disease, Vol 4, Iss 1, Pp 1-12 (2018)
NAD+ and cognitive hypersensitivity during aging Cognitive dysfunction is one of the most concerning outcomes in global population aging. However, the mechanisms of cognitive impairment during aging remain elusive. We found that in old mice, levels o
Externí odkaz:
https://doaj.org/article/5620c8e0b04c4040b4846d81718e1b72
Autor:
Cheng Cheng, Pan-Yue Deng, Yoshiho Ikeuchi, Carla Yuede, Daofeng Li, Nicholas Rensing, Ju Huang, Dustin Baldridge, Susan E. Maloney, Joseph D. Dougherty, John Constantino, Arezu Jahani-Asl, Michael Wong, David F. Wozniak, Ting Wang, Vitaly A. Klyachko, Azad Bonni
Publikováno v:
Cell Reports, Vol 25, Iss 6, Pp 1404-1414.e6 (2018)
Summary: Mutations of the transcriptional regulator PHF6 cause the X-linked intellectual disability disorder Börjeson-Forssman-Lehmann syndrome (BFLS), but the pathogenesis of BFLS remains poorly understood. Here, we report a mouse model of BFLS, ge
Externí odkaz:
https://doaj.org/article/5107bf2f06fd4114b0bd1ec237ef6f50
Autor:
Brittany A. Townley, Luke Buerer, Albino Bacolla, Timur Rusanov, Nicolas Schmidt, Sridhar N. Srivatsan, Nathanial E. Clark, Fadhel Mansoori, Reilly A. Sample, Joshua R. Brickner, Drew McDonald, Miaw-Sheue Tsai, Matthew J. Walter, David F. Wozniak, Alex S. Holehouse, John A. Tainer, William G. Fairbrother, Nima Mosammaparast
SummaryThe pre-mRNA life cycle requires intron processing; yet, how intron processing defects influence splicing and gene expression is unclear. Here, we find TTDN1, which is frequently mutated in non-photosensitive trichothiodystrophy (NP-TTD), func
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f0503367ec9efd5d220936eb37c95bca
https://doi.org/10.1101/2022.11.03.515106
https://doi.org/10.1101/2022.11.03.515106
Autor:
Sruthi Ramagiri, Shelei Pan, Dakota DeFreitas, Peter H. Yang, Dhvanii K. Raval, David F. Wozniak, Prabagaran Esakky, Jennifer M. Strahle
Publikováno v:
Translational Stroke Research.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2c8f8e7c7fcaecb0df0f3494522a82b8
https://doi.org/10.1007/s12975-022-01092-7
https://doi.org/10.1007/s12975-022-01092-7
Publikováno v:
Behavioral Sciences, Vol 1, Iss 1, Pp 4-30 (2011)
Glucocorticoids (GCs) such as dexamethasone (DEX) or betamethasone are repeatedly administered for up to a month to prematurely born infants as a treatment for chronic lung dysfunction. Results of clinical trials have shown that the use of GCs in the
Externí odkaz:
https://doaj.org/article/46addd8aa6fd44fcbc066263656f820f
Publikováno v:
Proceedings of the National Academy of Sciences. 118
Significance Gain-of-function (GOF) mutations in the ATP-sensitive potassium (K ATP ) channel cause neonatal diabetes, with some individuals exhibiting developmental delay, epilepsy, and neonatal diabetes (DEND) syndrome. In this study, we uncover th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7813966c5deddadf3ac00d7ba14a875d
https://doi.org/10.1073/pnas.2109721118
https://doi.org/10.1073/pnas.2109721118
Autor:
Ling-Hui Zeng, Yannan Ouyang, Vered Gazit, John R. Cirrito, Laura A. Jansen, Kevin C. Ess, Kelvin A. Yamada, David F. Wozniak, David M. Holtzman, David H. Gutmann, Michael Wong
Publikováno v:
Neurobiology of Disease, Vol 28, Iss 2, Pp 184-196 (2007)
Mice with inactivation of the Tuberous sclerosis complex-1 (Tsc1) gene in glia (Tsc1GFAPCKO mice) have deficient astrocyte glutamate transporters and develop seizures, suggesting that abnormal glutamate homeostasis contributes to neurological abnorma
Externí odkaz:
https://doaj.org/article/61946638a4cc408e96925af01b2530d8