Zobrazeno 1 - 10
of 267
pro vyhledávání: '"K Michael Gibson"'
Autor:
Kara R Vogel, Garrett R Ainslie, Erwin E Jansen, Gajja S Salomons, Jean-Baptiste Roullet, K Michael Gibson
Publikováno v:
PLoS ONE, Vol 12, Iss 10, p e0186919 (2017)
We explored the utility of neural stem cells (NSCs) as an in vitro model for evaluating preclinical therapeutics in succinic semialdehyde dehydrogenase-deficient (SSADHD) mice. NSCs were obtained from aldh5a1+/+ and aldh5a1-/- mice (aldh5a1 = aldehyd
Externí odkaz:
https://doaj.org/article/18afb8dafe4843518b2deb6208f3428f
Defects in GABA metabolism affect selective autophagy pathways and are alleviated by mTOR inhibition
Autor:
Ronak Lakhani, Kara R Vogel, Andreas Till, Jingjing Liu, Sarah F Burnett, K Michael Gibson, Suresh Subramani
Publikováno v:
EMBO Molecular Medicine, Vol 6, Iss 4, Pp 551-566 (2014)
Abstract In addition to key roles in embryonic neurogenesis and myelinogenesis, γ‐aminobutyric acid (GABA) serves as the primary inhibitory mammalian neurotransmitter. In yeast, we have identified a new role for GABA that augments activity of the
Externí odkaz:
https://doaj.org/article/9bc787eb979e42b383255daf169c9e72
Publikováno v:
PLoS ONE, Vol 6, Iss 4, p e19021 (2011)
Aberrant γ-aminobutyric acid type A (GABA(A)) receptor-mediated inhibition in cortico-thalamic networks remains an attractive mechanism for typical absence seizure genesis. Using the whole-cell patch clamp technique we examined 'phasic' and 'tonic'
Externí odkaz:
https://doaj.org/article/b2fbf2cab72042d1ae5d3dfe354f38d7
Autor:
Nazmiye B. Yapici, Xiang Gao, Xin Yan, Shanshan Hou, Steffen Jockusch, Lillian Lesniak, K. Michael Gibson, Lanrong Bi
Publikováno v:
ACS Omega, Vol 6, Iss 47, Pp 31447-31456 (2021)
Externí odkaz:
https://doaj.org/article/a8002a292f8a4fc7b531da388c4465e3
Autor:
Madalyn N. Brown, K. Michael Gibson, Michelle A. Schmidt, Dana C. Walters, Erland Arning, Teodoro Bottiglieri, Jean‐Baptiste Roullet
Publikováno v:
JIMD Reports, Vol 56, Iss 1, Pp 58-69 (2020)
Abstract Succinic semialdehyde dehydrogenase deficiency (SSADHD) manifests with low levels of glutamine in the brain, suggesting that central glutamine deficiency contributes to pathogenesis. Recently, we attempted to rescue the disease phenotype of
Externí odkaz:
https://doaj.org/article/38e2f1202dab41748cf08b6d80fe0655
Autor:
Madalyn Brown, Coleman Turgeon, Piero Rinaldo, Ana Pop, Gajja S. Salomons, Jean‐Baptiste Roullet, K. Michael Gibson
Publikováno v:
JIMD Reports, Vol 53, Iss 1, Pp 29-38 (2020)
Abstract Analyses of 19 amino acids, 38 acylcarnitines, and 3 creatine analogues (https://clir.mayo.edu) were implemented to test the hypothesis that succinic semialdehyde dehydrogenase deficiency (SSADHD) could be identified in dried bloodspots (DBS
Externí odkaz:
https://doaj.org/article/f09c60fe790c4c1c8c5563b14afbb728
Autor:
Jeevan B. GC, Christopher T. Szlenk, Ayobami Diyaolu, Peter Obi, Haiyang Wei, Xutong Shi, K. Michael Gibson, Senthil Natesan, Jean-Baptiste Roullet
Publikováno v:
Biophysical Journal. 122:849-867
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::de8ae794956928b44ea0ccbb41f53e6a
https://doi.org/10.1016/j.bpj.2023.01.032
https://doi.org/10.1016/j.bpj.2023.01.032
Autor:
Mousumi Bose, David D. Cuthbertson, Marsha A. Fraser, Jean-Baptiste Roullet, K. Michael Gibson, Dana R. Schules, Kelly M. Gawron, Melissa B. Gamble, Kathryn M. Sacra, Melisa J. Lopez, William B. Rizzo
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100694- (2020)
Zellweger spectrum disorders (ZSD) are rare, debilitating genetic diseases of peroxisome biogenesis that affect multiple organ systems and present with broad clinical heterogeneity. Although many case studies have characterized the multitude of signs
Externí odkaz:
https://doaj.org/article/16075265bf244d0896a01a56d9b2f300
Autor:
Mousumi Bose, Meena Mahadevan, Dana R. Schules, Rory K. Coleman, Kelly M. Gawron, Melissa B. Gamble, Jean-Baptiste Roullet, K. Michael Gibson, William B. Rizzo
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 19, Iss , Pp - (2019)
Zellweger spectrum disorders (ZSDs) are rare, debilitating genetic diseases of peroxisome biogenesis that require constant management and lifelong care. Nevertheless, the experience of family caregivers for children diagnosed with ZSD is not well und
Externí odkaz:
https://doaj.org/article/ed9cc0958fc24b52bc5874d5023dc305
Publikováno v:
Journal of Inherited Metabolic Disease.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::31b03419dde372bdd124444edfd1e305
https://doi.org/10.1002/jimd.12635
https://doi.org/10.1002/jimd.12635