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13 results on '"Karbassi, Farhad"'

1. Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy

Author

van Karnebeek, Clara D.M., Ramos, Rúben J., Wen, Xiao-Yan, Tarailo-Graovac, Maja, Gleeson, Joseph G., Skrypnyk, Cristina, Brand-Arzamendi, Koroboshka, Karbassi, Farhad, Issa, Mahmoud Y., van der Lee, Robin, Drögemöller, Britt I., Koster, Janet, Rousseau, Justine, Campeau, Philippe M., Wang, Youdong, Cao, Feng, Li, Meng, Ruiter, Jos, Ciapaite, Jolita, Kluijtmans, Leo A.J., Willemsen, Michel A.A.P., Jans, Judith J., Ross, Colin J., Wintjes, Liesbeth T., Rodenburg, Richard J., Huigen, Marleen C.D.G., Jia, Zhengping, Waterham, Hans R., Wasserman, Wyeth W., Wanders, Ronald J.A., Verhoeven-Duif, Nanda M., Zaki, Maha S., and Wevers, Ron A.

Published
2019
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2. Plasma obtained following murine hindlimb ischemic conditioning protects against oxidative stress in zebrafish models through activation of nrf2a and downregulation of duox

Author

Guan, Rui, primary, Wen, Xiao-yan, additional, Leung, Chung Ho, additional, Ciano-Oliveira, Caterina Di, additional, Lam, Stephen, additional, Dai, Si Yuan, additional, Karbassi, Farhad, additional, Mauro, Antonio, additional, Wang, Youdong, additional, and Rotstein, Ori, additional

Published
2021
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3. Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS

Author

van Kuilenburg, Andre B. P., Tarailo-Graovac, Maja, Richmond, Phillip A., Drogemoller, Britt I., Pouladi, Mahmoud A., Leen, Rene, Brand-Arzamendi, Koroboshka, Dobritzsch, Doreen, Dolzhenko, Egor, Eberle, Michael A., Hayward, Bruce, Jones, Meaghan J., Karbassi, Farhad, Kobor, Michael S., Koster, Janet, Kumari, Daman, Li, Meng, MacIsaac, Julia, McDonald, Cassandra, Meijer, Judith, Nguyen, Charlotte, Rajan-Babu, Indhu-Shree, Scherer, Stephen W., Sim, Bernice, Trost, Brett, Tseng, Laura A., Turkenburg, Marjolein, van Vugt, Joke J. F. A., Veldink, Jan H., Walia, Jagdeep S., Wang, Youdong, van Weeghel, Michel, Wright, Galen E. B., Xu, Xiaohong, Yuen, Ryan K. C., Zhang, Jinqiu, Ross, Colin J., Wasserman, Wyeth W., Geraghty, Michael T., Santra, Saikat, Wanders, Ronald J. A., Wen, Xiao-Yan, Waterham, Hans R., Usdin, Karen, van Karnebeek, Clara D. M., van Kuilenburg, Andre B. P., Tarailo-Graovac, Maja, Richmond, Phillip A., Drogemoller, Britt I., Pouladi, Mahmoud A., Leen, Rene, Brand-Arzamendi, Koroboshka, Dobritzsch, Doreen, Dolzhenko, Egor, Eberle, Michael A., Hayward, Bruce, Jones, Meaghan J., Karbassi, Farhad, Kobor, Michael S., Koster, Janet, Kumari, Daman, Li, Meng, MacIsaac, Julia, McDonald, Cassandra, Meijer, Judith, Nguyen, Charlotte, Rajan-Babu, Indhu-Shree, Scherer, Stephen W., Sim, Bernice, Trost, Brett, Tseng, Laura A., Turkenburg, Marjolein, van Vugt, Joke J. F. A., Veldink, Jan H., Walia, Jagdeep S., Wang, Youdong, van Weeghel, Michel, Wright, Galen E. B., Xu, Xiaohong, Yuen, Ryan K. C., Zhang, Jinqiu, Ross, Colin J., Wasserman, Wyeth W., Geraghty, Michael T., Santra, Saikat, Wanders, Ronald J. A., Wen, Xiao-Yan, Waterham, Hans R., Usdin, Karen, and van Karnebeek, Clara D. M.

Abstract

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-genome sequencing. The expansion was observed in three unrelated patients who presented with an early-onset delay in overall development, progressive ataxia, and elevated levels of glutamine. In addition to ataxia, one patient also showed cerebellar atrophy. The expansion was associated with a relative deficiency of GLS messenger RNA transcribed from the expanded allele, which probably resulted from repeat-mediated chromatin changes upstream of the GLS repeat. Our discovery underscores the importance of careful examination of regions of the genome that are typically excluded from or poorly captured by exome sequencing.

Published
2019
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4. Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy

Author

van Karnebeek, Clara D M, Ramos, Rúben J, Wen, Xiao-Yan, Tarailo-Graovac, Maja, Gleeson, Joseph G, Skrypnyk, Cristina, Brand-Arzamendi, Koroboshka, Karbassi, Farhad, Issa, Mahmoud Y, van der Lee, Robin, Drögemöller, Britt I, Koster, Janet, Rousseau, Justine, Campeau, Philippe M, Wang, Youdong, Cao, Feng, Li, Meng, Ruiter, Jos, Ciapaite, Jolita, Kluijtmans, Leo A J, Willemsen, Michel A A P, Jans, Judith J, Ross, Colin J, Wintjes, Liesbeth T, Rodenburg, Richard J, Huigen, Marleen C D G, Jia, Zhengping, Waterham, Hans R, Wasserman, Wyeth W, Wanders, Ronald J A, Verhoeven-Duif, Nanda M, Zaki, Maha S, Wevers, Ron A, van Karnebeek, Clara D M, Ramos, Rúben J, Wen, Xiao-Yan, Tarailo-Graovac, Maja, Gleeson, Joseph G, Skrypnyk, Cristina, Brand-Arzamendi, Koroboshka, Karbassi, Farhad, Issa, Mahmoud Y, van der Lee, Robin, Drögemöller, Britt I, Koster, Janet, Rousseau, Justine, Campeau, Philippe M, Wang, Youdong, Cao, Feng, Li, Meng, Ruiter, Jos, Ciapaite, Jolita, Kluijtmans, Leo A J, Willemsen, Michel A A P, Jans, Judith J, Ross, Colin J, Wintjes, Liesbeth T, Rodenburg, Richard J, Huigen, Marleen C D G, Jia, Zhengping, Waterham, Hans R, Wasserman, Wyeth W, Wanders, Ronald J A, Verhoeven-Duif, Nanda M, Zaki, Maha S, and Wevers, Ron A

Published
2019

5. Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy

Author

Genetica Sectie Metabole Diagnostiek, Child Health, Cancer, van Karnebeek, Clara D M, Ramos, Rúben J, Wen, Xiao-Yan, Tarailo-Graovac, Maja, Gleeson, Joseph G, Skrypnyk, Cristina, Brand-Arzamendi, Koroboshka, Karbassi, Farhad, Issa, Mahmoud Y, van der Lee, Robin, Drögemöller, Britt I, Koster, Janet, Rousseau, Justine, Campeau, Philippe M, Wang, Youdong, Cao, Feng, Li, Meng, Ruiter, Jos, Ciapaite, Jolita, Kluijtmans, Leo A J, Willemsen, Michel A A P, Jans, Judith J, Ross, Colin J, Wintjes, Liesbeth T, Rodenburg, Richard J, Huigen, Marleen C D G, Jia, Zhengping, Waterham, Hans R, Wasserman, Wyeth W, Wanders, Ronald J A, Verhoeven-Duif, Nanda M, Zaki, Maha S, Wevers, Ron A, Genetica Sectie Metabole Diagnostiek, Child Health, Cancer, van Karnebeek, Clara D M, Ramos, Rúben J, Wen, Xiao-Yan, Tarailo-Graovac, Maja, Gleeson, Joseph G, Skrypnyk, Cristina, Brand-Arzamendi, Koroboshka, Karbassi, Farhad, Issa, Mahmoud Y, van der Lee, Robin, Drögemöller, Britt I, Koster, Janet, Rousseau, Justine, Campeau, Philippe M, Wang, Youdong, Cao, Feng, Li, Meng, Ruiter, Jos, Ciapaite, Jolita, Kluijtmans, Leo A J, Willemsen, Michel A A P, Jans, Judith J, Ross, Colin J, Wintjes, Liesbeth T, Rodenburg, Richard J, Huigen, Marleen C D G, Jia, Zhengping, Waterham, Hans R, Wasserman, Wyeth W, Wanders, Ronald J A, Verhoeven-Duif, Nanda M, Zaki, Maha S, and Wevers, Ron A

Published
2019

6. Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS

Author

van Kuilenburg, André B.P., primary, Tarailo-Graovac, Maja, additional, Richmond, Phillip A., additional, Drögemöller, Britt I., additional, Pouladi, Mahmoud A., additional, Leen, René, additional, Brand-Arzamendi, Koroboshka, additional, Dobritzsch, Doreen, additional, Dolzhenko, Egor, additional, Eberle, Michael A., additional, Hayward, Bruce, additional, Jones, Meaghan J., additional, Karbassi, Farhad, additional, Kobor, Michael S., additional, Koster, Janet, additional, Kumari, Daman, additional, Li, Meng, additional, MacIsaac, Julia, additional, McDonald, Cassandra, additional, Meijer, Judith, additional, Nguyen, Charlotte, additional, Rajan-Babu, Indhu-Shree, additional, Scherer, Stephen W., additional, Sim, Bernice, additional, Trost, Brett, additional, Tseng, Laura A., additional, Turkenburg, Marjolein, additional, van Vugt, Joke J.F.A., additional, Veldink, Jan H., additional, Walia, Jagdeep S., additional, Wang, Youdong, additional, van Weeghel, Michel, additional, Wright, Galen E.B., additional, Xu, Xiaohong, additional, Yuen, Ryan K.C., additional, Zhang, Jinqiu, additional, Ross, Colin J., additional, Wasserman, Wyeth W., additional, Geraghty, Michael T., additional, Santra, Saikat, additional, Wanders, Ronald J.A., additional, Wen, Xiao-Yan, additional, Waterham, Hans R., additional, Usdin, Karen, additional, and van Karnebeek, Clara D.M., additional

Published
2019
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7. Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function

Author

Wen, Xiao-Yan, primary, Tarailo-Graovac, Maja, additional, Brand-Arzamendi, Koroboshka, additional, Willems, Anke, additional, Rakic, Bojana, additional, Huijben, Karin, additional, Da Silva, Afitz, additional, Pan, Xuefang, additional, El-Rass, Suzan, additional, Ng, Robin, additional, Selby, Katheryn, additional, Philip, Anju Mary, additional, Yun, Junghwa, additional, Ye, X. Cynthia, additional, Ross, Colin J., additional, Lehman, Anna M., additional, Zijlstra, Fokje, additional, Bakar, A. Abu, additional, Drögemöller, Britt, additional, Moreland, Jacqueline, additional, Wasserman, Wyeth W., additional, Vallance, Hilary, additional, van Scherpenzeel, Monique, additional, Karbassi, Farhad, additional, Hoskings, Martin, additional, Engelke, Udo, additional, de Brouwer, Arjan, additional, Wevers, Ron A., additional, Pshezhetsky, Alexey V., additional, van Karnebeek, Clara D.M., additional, and Lefeber, Dirk J., additional

Published
2018
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9. Hypoxia in early life is associated with lasting changes in left ventricular structure and function at maturity in the rat

Author

Del Duca, Danny, primary, Tadevosyan, Artavazd, additional, Karbassi, Farhad, additional, Akhavein, Farhad, additional, Vaniotis, George, additional, Rodaros, Demetra, additional, Villeneuve, Louis R., additional, Allen, Bruce G., additional, Nattel, Stanley, additional, Rohlicek, Charles V., additional, and Hbert, Terence E., additional

Published
2012
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13. CED-10/Rac1 Regulates Endocytic Recycling through the RAB-5 GAP TBC-2.

Author

Lin Sun, Ou Liu, Desai, Jigar, Karbassi, Farhad, Sylvain, Marc-André, Anbing Shi, Zheng Zhou, Rocheleau, Christian E., and Grant, Barth D.

Subjects
GUANOSINE triphosphatase, GUANINE nucleotide exchange factors, PHAGOCYTOSIS, CAENORHABDITIS elegans, ENDOSOMES, CELL membranes
Abstract

Rac1 is a founding member of the Rho-GTPase family and a key regulator of membrane remodeling. In the context o apoptotic cell corpse engulfment, CED-10/Rac1 acts with its bipartite guanine nucleotide exchange factor, CED-5/Dock180 CED-12/ELMO, in an evolutionarily conserved pathway to promote phagocytosis. Here we show that in the context of th Caenorhabditis elegans intestinal epithelium CED-10/Rac1, CED-5/Dock180, and CED-12/ELMO promote basolatera recycling. Furthermore, we show that CED-10 binds to the RAB-5 GTPase activating protein TBC-2, that CED-10 contribute to recruitment of TBC-2 to endosomes, and that recycling cargo is trapped in recycling endosomes in ced-12, ced-10, an tbc-2 mutants. Expression of GTPase defective RAB-5(Q78L) also traps recycling cargo. Our results indicate that down regulation of early endosome regulator RAB-5/Rab5 by a CED-5, CED-12, CED-10, TBC-2 cascade is an important step in th transport of cargo through the basolateral recycling endosome for delivery to the plasma membrane. [ABSTRACT FROM AUTHOR]

Published
2012
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