Zobrazeno 1 - 10
of 116
pro vyhledávání: '"Jonathan D. Gitlin"'
Publikováno v:
Neurobiology of Disease, Vol 6, Iss 4, Pp 221-230 (1999)
Copper is an essential trace metal which plays a fundamental role in the biochemistry of the human nervous system. Menkes disease and Wilson disease are inherited disorders of copper metabolism and the dramatic neurodegenerative phenotypes of these t
Externí odkaz:
https://doaj.org/article/1ce8528f5dd3495fb4063f167de0bd59
Autor:
Rebecca T Thomason, Michael A Pettiglio, Carolina Herrera, Clara Kao, Jonathan D Gitlin, Thomas B Bartnikas
Publikováno v:
PLoS ONE, Vol 12, Iss 6, p e0179318 (2017)
Trace metals are essential for health but toxic when present in excess. The maintenance of trace metals at physiologic levels reflects both import and export by cells and absorption and excretion by organs. The mechanism by which this maintenance is
Externí odkaz:
https://doaj.org/article/f33889202bd54ac8866acf746c50fafc
Publikováno v:
PLoS ONE, Vol 7, Iss 8, p e43039 (2012)
The transition metal, copper (Cu), is an enzymatic cofactor required for a wide range of biochemical processes. Its essentiality is demonstrated by Menkes disease, an X-linked copper deficiency disorder characterized by defects in nervous-, cardiovas
Externí odkaz:
https://doaj.org/article/bb98b1bf8d424fd383ea394b8c4ffd79
Autor:
Shivatheja Soma, Jennifer J. Rahn, Haarin Chun, Alison C. Vicary, Aren Boulet, Jonathan D. Gitlin, Andrew J. Latimer, Byung-Eun Kim, Scot C. Leary, Vishal M. Gohil, Shrishiv A. Timbalia, Sherine S.L. Chan
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America
Significance Inherited pathogenic mutations in genes required for copper delivery to cytochrome c oxidase (CcO) perturb mitochondrial energy metabolism and result in fatal mitochondrial disease. A prior attempt to treat human patients with these muta
Autor:
Jonathan D. Gitlin, Dhivya Ashok Kumar, Richard E. Mains, Rebecca T. Thomason, Maya Yankova, Stephen M. King, Betty A. Eipper
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-15 (2018)
Scientific Reports
Scientific Reports
The assembly of membranous extensions such as microvilli and cilia in polarized cells is a tightly regulated, yet poorly understood, process. Peptidylglycine α-amidating monooxygenase (PAM), a membrane enzyme essential for the synthesis of amidated
Autor:
Michael J. Petris, Jeffery M Dale, Jaekwon Lee, Jonathan D. Gitlin, Gary A. Weisman, Michael L. Garcia, Victoria L. Hodgkinson
Publikováno v:
The Journal of Pathology. 236:241-250
ATP7A is a copper-transporting P-type ATPase that is essential for cellular copper homeostasis. Loss-of-function mutations in the ATP7A gene result in Menkes disease, a fatal neurodegenerative disorder resulting in seizures, hypotonia and failure to
Autor:
Jonathan D. Gitlin, Ryan S. Gray, David M. Alvarado, Lydia Burgert, Matthew I. Goldsmith, Christina A. Gurnett, John M. Gansner, Jillian G. Buchan
Publikováno v:
Developmental Dynamics. 243:1646-1657
Background: Idiopathic scoliosis is a form of spinal deformity that affects 2–3% of children and results in curvature of the spine without structural defects of the vertebral units. The pathogenesis of idiopathic scoliosis remains poorly understood
Autor:
Corina Anastasaki, Mike Tyers, Richard Marais, E. Elizabeth Patton, Jan Wildenhain, Sonam Dolma, Hironori Ishizaki, Zhiqiang Zeng, Erik C. Madsen, Michael Shaw, Michaela Spitzer, Jonathan D. Gitlin
Publikováno v:
Ishizaki, H, Spitzer, M, Wildenhain, J, Anastasaki, C, Zeng, Z, Dolma, S, Shaw, M, Madsen, E, Gitlin, J, Marais, R, Tyers, M & Patton, E E 2010, ' Combined zebrafish-yeast chemical-genetic screens reveal gene-copper-nutrition interactions that modulate melanocyte pigmentation ', Disease Models and Mechanisms, vol. 3, no. 9-10, pp. 639-651 . https://doi.org/10.1242/dmm.005769
Disease Models & Mechanisms
Disease Models & Mechanisms; Vol 3
Disease Models & Mechanisms
Disease Models & Mechanisms; Vol 3
SUMMARY Hypopigmentation is a feature of copper deficiency in humans, as caused by mutation of the copper (Cu2+) transporter ATP7A in Menkes disease, or an inability to absorb copper after gastric surgery. However, many causes of copper deficiency ar
Autor:
Kojo S.J. Elenitoba-Johnson, Xuwen Liu, Graham F. Brady, Jonathan D. Gitlin, Colin S. Duckett, Stefanie Galbán, Venkatesha Basrur, Thomas E. Wilson
Publikováno v:
Molecular and Cellular Biology. 30:1923-1936
In order to balance the cellular requirements for copper with its toxic properties, an elegant set of mechanisms has evolved to regulate and buffer intracellular copper. The X-linked inhibitor of apoptosis (XIAP) protein was recently identified as a
Publikováno v:
Developmental Dynamics. 237:1780-1788
Developing organisms depend upon a delicate balance in the supply and demand of energy to adapt to variable oxygen availability, although the essential mechanisms determining such adaptation remain elusive. In this study, we examine reversible anoxic