Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Farhad Karbassi"'
Autor:
Rui Guan, Xiao-Yan Wen, Chung Ho Leung, Caterina Di Ciano-Oliveira, Stephen Lam, Si Yuan Dai, Farhad Karbassi, Antonio Mauro, Youdong Wang, Ori Rotstein
Publikováno v:
PLoS ONE, Vol 16, Iss 11, p e0260442 (2021)
Ischemia/reperfusion of organ systems in trauma patients with resuscitated hemorrhagic shock (HSR) contributes to tissue injury and organ dysfunction. Previous studies using a murine model of HSR showed that remote ischemic preconditioning (RIC) prot
Externí odkaz:
https://doaj.org/article/bdc5399719f04bfbbb01b0df0c4d6d45
Autor:
Lin Sun, Ou Liu, Jigar Desai, Farhad Karbassi, Marc-André Sylvain, Anbing Shi, Zheng Zhou, Christian E Rocheleau, Barth D Grant
Publikováno v:
PLoS Genetics, Vol 8, Iss 7, p e1002785 (2012)
Rac1 is a founding member of the Rho-GTPase family and a key regulator of membrane remodeling. In the context of apoptotic cell corpse engulfment, CED-10/Rac1 acts with its bipartite guanine nucleotide exchange factor, CED-5/Dock180-CED-12/ELMO, in a
Externí odkaz:
https://doaj.org/article/2dd86e4c800d4bc0824f6a70906c5f58
Publikováno v:
PLoS ONE, Vol 5, Iss 1, p e8810 (2010)
Most enolases are homodimers. There are a few that are octamers, with the eight subunits arranged as a tetramer of dimers. These dimers have the same basic fold and same subunit interactions as are found in the dimeric enolases. The dissociation of t
Externí odkaz:
https://doaj.org/article/3c4a5207a2ce4e21ad96a28c78831560
Autor:
Farhad Karbassi, Joke J.F.A. van Vugt, Daman Kumari, Doreen Dobritzsch, Britt I. Drögemöller, Michael A. Eberle, Clara D. M. van Karnebeek, Maja Tarailo-Graovac, Brett Trost, Ronald J. A. Wanders, Saikat Santra, Michel van Weeghel, Youdong Wang, Wyeth W. Wasserman, Marjolein Turkenburg, Xiao-Yan Wen, Andre B. P. van Kuilenburg, Meaghan J Jones, Jagdeep S. Walia, Koroboshka Brand-Arzamendi, Rene Leen, Julia L Macisaac, Hans R. Waterham, Laura A. Tseng, Michael S. Kobor, Charlotte Nguyen, Karen Usdin, Janet Koster, Indhu-Shree Rajan-Babu, Xiaohong Xu, Bernice Sim, Jinqiu Zhang, Jan H. Veldink, Meng Li, Egor Dolzhenko, Ryan K. C. Yuen, Stephen W. Scherer, Cassandra L. McDonald, Judith Meijer, Phillip A. Richmond, Bruce E. Hayward, C. J. Ross, Galen E.B. Wright, Mahmoud A. Pouladi, Michael T. Geraghty
Publikováno v:
New England journal of medicine, 380(15), 1433-1441. Massachussetts Medical Society
New England Journal of Medicine, 380(15), 1433-1441. Massachussetts Medical Society
van Kuilenburg, A B P, Tarailo-Graovac, M, Richmond, P A, Drögemöller, B I, Pouladi, M A, Leen, R, Brand-Arzamendi, K, Dobritzsch, D, Dolzhenko, E, Eberle, M A, Hayward, B, Jones, M J, Karbassi, F, Kobor, M S, Koster, J, Kumari, D, Li, M, MacIsaac, J, McDonald, C, Meijer, J, Nguyen, C, Rajan-Babu, I S, Scherer, S W, Sim, B, Trost, B, Tseng, L A, Turkenburg, M, van Vugt, J J F A, Veldink, J H, Walia, J S, Wang, Y, van Weeghel, M, Wright, G E B, Xu, X, Yuen, R K C, Zhang, J, Ross, C J, Wasserman, W W, Geraghty, M T, Santra, S, Wanders, R J A, Wen, X Y, Waterham, H R, Usdin, K & van Karnebeek, C D M 2019, ' Glutaminase deficiency caused by short tandem repeat expansion in GLS ', New England Journal of Medicine, vol. 380, no. 15, pp. 1433-1441 . https://doi.org/10.1056/NEJMoa1806627
N Engl J Med
New England Journal of Medicine, 380(15), 1433-1441. Massachussetts Medical Society
van Kuilenburg, A B P, Tarailo-Graovac, M, Richmond, P A, Drögemöller, B I, Pouladi, M A, Leen, R, Brand-Arzamendi, K, Dobritzsch, D, Dolzhenko, E, Eberle, M A, Hayward, B, Jones, M J, Karbassi, F, Kobor, M S, Koster, J, Kumari, D, Li, M, MacIsaac, J, McDonald, C, Meijer, J, Nguyen, C, Rajan-Babu, I S, Scherer, S W, Sim, B, Trost, B, Tseng, L A, Turkenburg, M, van Vugt, J J F A, Veldink, J H, Walia, J S, Wang, Y, van Weeghel, M, Wright, G E B, Xu, X, Yuen, R K C, Zhang, J, Ross, C J, Wasserman, W W, Geraghty, M T, Santra, S, Wanders, R J A, Wen, X Y, Waterham, H R, Usdin, K & van Karnebeek, C D M 2019, ' Glutaminase deficiency caused by short tandem repeat expansion in GLS ', New England Journal of Medicine, vol. 380, no. 15, pp. 1433-1441 . https://doi.org/10.1056/NEJMoa1806627
N Engl J Med
We report an inborn error of metabolism caused by an expansion of a GCA-repeat tract in the 5′ untranslated region of the gene encoding glutaminase (GLS) that was identified through detailed clinical and biochemical phenotyping, combined with whole
Autor:
Nanda M. Verhoeven-Duif, Janet Koster, Hans R. Waterham, Wyeth W. Wasserman, Justine Rousseau, Judith J.M. Jans, Youdong Wang, Colin J. D. Ross, Mahmoud Y. Issa, Liesbeth T. Wintjes, Maja Tarailo-Graovac, Leo A. J. Kluijtmans, Clara D.M. van Karnebeek, Michèl A.A.P. Willemsen, Jos P.N. Ruiter, Xiao-Yan Wen, Ron A. Wevers, Philippe M. Campeau, Farhad Karbassi, Cristina Skrypnyk, Marleen C. D. G. Huigen, Koroboshka Brand-Arzamendi, Feng Cao, Richard J. Rodenburg, Zhengping Jia, Meng Li, Ronald J.A. Wanders, Ruben Ramos, Britt I. Drögemöller, Maha S. Zaki, Joseph G. Gleeson, Jolita Ciapaite, Robin van der Lee
Publikováno v:
American journal of human genetics, 105(3), 534-548. Cell Press
van Karnebeek, C D M, Ramos, R B J, Wen, X-Y, Tarailo-Graovac, M, Gleeson, J G, Skrypnyk, C, Brand-Arzamendi, K, Karbassi, F, Issa, M Y, van der Lee, R, Drögemöller, B I, Koster, J, Rousseau, J, Campeau, P M, Wang, Y, Cao, F, Li, M, Ruiter, J, Ciapaite, J, Kluijtmans, L A J, Willemsen, M A A P, Jans, J J, Ross, C J, Wintjes, L T, Rodenburg, R J, Huigen, M C D G, Jia, Z, Waterham, H R, Wasserman, W W, Wanders, R J A, Verhoeven-Duif, N M, Zaki, M S & Wevers, R A 2019, ' Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy ', American journal of human genetics, vol. 105, no. 3, pp. 534-548 . https://doi.org/10.1016/j.ajhg.2019.07.015
American Journal of Human Genetics, 105, 534-548
American Journal of Human Genetics, 105(3), 534. Cell Press
American Journal of Human Genetics, 105, 3, pp. 534-548
van Karnebeek, C D M, Ramos, R B J, Wen, X-Y, Tarailo-Graovac, M, Gleeson, J G, Skrypnyk, C, Brand-Arzamendi, K, Karbassi, F, Issa, M Y, van der Lee, R, Drögemöller, B I, Koster, J, Rousseau, J, Campeau, P M, Wang, Y, Cao, F, Li, M, Ruiter, J, Ciapaite, J, Kluijtmans, L A J, Willemsen, M A A P, Jans, J J, Ross, C J, Wintjes, L T, Rodenburg, R J, Huigen, M C D G, Jia, Z, Waterham, H R, Wasserman, W W, Wanders, R J A, Verhoeven-Duif, N M, Zaki, M S & Wevers, R A 2019, ' Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy ', American journal of human genetics, vol. 105, no. 3, pp. 534-548 . https://doi.org/10.1016/j.ajhg.2019.07.015
American Journal of Human Genetics, 105, 534-548
American Journal of Human Genetics, 105(3), 534. Cell Press
American Journal of Human Genetics, 105, 3, pp. 534-548
Early-infantile encephalopathies with epilepsy are devastating conditions mandating an accurate diagnosis to guide proper management. Whole-exome sequencing was used to investigate the disease etiology in four children from independent families with
Autor:
Alexey V. Pshezhetsky, Hilary Vallance, Katheryn Selby, Jacqueline Moreland, Udo F. H. Engelke, Martin Hoskings, Anju M. Philip, Farhad Karbassi, Colin J. D. Ross, Maja Tarailo-Graovac, Arjan P.M. de Brouwer, Xiao-Yan Wen, Dirk Lefeber, Bojana Rakic, Koroboshka Brand-Arzamendi, Monique van Scherpenzeel, Fokje Zijlstra, Anke P. Willems, Robin Ng, Clara D.M. van Karnebeek, Wyeth W. Wasserman, Ron A. Wevers, N. Abu Bakar, X. Cynthia Ye, Anna Lehman, Britt I. Drögemöller, Suzan El-Rass, Junghwa Yun, Karin Huijben, Xuefang Pan, Afitz Da Silva
Publikováno v:
Jci Insight, 3, 24
Jci Insight, 3
JCI insight, 3(24). The American Society for Clinical Investigation
Jci Insight, 3
JCI insight, 3(24). The American Society for Clinical Investigation
Sialic acids are important components of glycoproteins and glycolipids essential for cellular communication, infection, and metastasis. The importance of sialic acid biosynthesis in human physiology is well illustrated by the severe metabolic disorde
Autor:
Farhad Karbassi, Elizabeth M. Meiering, Clare A. Siddall, Jessica A.O. Rumfeldt, James R. Lepock, Peter B. Stathopulos
Publikováno v:
Journal of Biological Chemistry. 281:6184-6193
Differential scanning calorimetry was used to measure changes in thermodynamic stability and aggregation for glycine 93 mutants of human copper, zinc-superoxide dismutase (SOD). Glycine 93 is a conserved residue at position i + 3 of a tight turn and
Autor:
Zheng Zhou, Barth D. Grant, Jigar V. Desai, Ou Liu, Christian E. Rocheleau, Lin Sun, Farhad Karbassi, Marc-André Sylvain, Anbing Shi
Publikováno v:
PLoS Genetics, Vol 8, Iss 7, p e1002785 (2012)
PLoS Genetics
PLoS Genetics
Rac1 is a founding member of the Rho-GTPase family and a key regulator of membrane remodeling. In the context of apoptotic cell corpse engulfment, CED-10/Rac1 acts with its bipartite guanine nucleotide exchange factor, CED-5/Dock180-CED-12/ELMO, in a
Autor:
George Vaniotis, Farhad Karbassi, Terence E. Hébert, Demetra Rodaros, Louis Villeneuve, Charles V. Rohlicek, Farhad Akhavein, Artavazd Tadevosyan, Danny Del Duca, Stanley Nattel, Bruce G. Allen
Publikováno v:
International journal of cardiology. 156(2)
Background There is a growing population of adults with repaired cyanotic congenital heart disease. These patients have increased risk of impaired cardiac health and premature death. We hypothesized that hypoxia in early life before surgical interven
Publikováno v:
PLoS ONE, Vol 5, Iss 1, p e8810 (2010)
PLoS ONE
PLoS ONE
Most enolases are homodimers. There are a few that are octamers, with the eight subunits arranged as a tetramer of dimers. These dimers have the same basic fold and same subunit interactions as are found in the dimeric enolases. The dissociation of t