Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Katrina Haude"'
Publikováno v:
International Journal of Endocrinology, Vol 2013 (2013)
The regulation of appetite is complex, though our understanding of the process is improving. The potential role for the melanin-concentrating hormone (MCH) signaling pathway in the treatment of obesity is being explored by many. It was hypothesized t
Externí odkaz:
https://doaj.org/article/6be20913b40744e181c9e75bbd76945e
Autor:
Ran Fang, Jinqiao Sun, Qing Zhou, Katrina Haude, Zheming Wu, Zhaohui Yang, Chelsea Roadhouse, Junying Yuan, Jia Hou, Haibo Li, Xiaomin Yu, Bijun Sun, Xiaochuan Wang, Jiahui Zhang, Danru Liu, Dilan Dissanayake, Huan Han, Ronald M. Laxer, Wenjie Wang, Jun Wang, Yuan Zhang, Heling Pan, Wenjing Ying, Natalie Deuitch, Qinhua Zhou, Jennifer MacKenzie, Ivona Aksentijevich, Mi Yang, Wanjin Li, Ying Wang, Panfeng Tao, Pui Y. Lee, Shihao Wang, Renkui Bai, Kirsty McWalter, Xin Huang
Publikováno v:
Nature. 577:109-114
Activation of RIPK1 controls TNF-mediated apoptosis, necroptosis and inflammatory pathways1. Cleavage of human and mouse RIPK1 after residues D324 and D325, respectively, by caspase-8 separates the RIPK1 kinase domain from the intermediate and death
Autor:
Renkui Bai, John M. Graham, Margaret G. Au, Maria Gabriela Otero, Emmanuelle Tiongson, Jaemin Kim, Francisca Millian Zamora, Tyler Mark Pierson, Katherine D. Mathews, Hong Cui, Ashley Collier, Katrina Haude, Cynthia J. Tifft, Frank Diaz, David H. Adams, Camilo Toro, Lesley Turner, David Buckley, Karin Panzer, Richard A. Lewis, William A. Gahl
Publikováno v:
Annals of Clinical and Translational Neurology
Annals of clinical and translational neurology, vol 6, iss 1
Annals of clinical and translational neurology, vol 6, iss 1
COX20/FAM36A encodes a mitochondrial complex IV assembly factor important for COX2 activation. Only one homozygous COX20 missense mutation has been previously described in two separate consanguineous families. We report four subjects with features th
Autor:
Amanda Balog, Jie Liu, Jesse Slone, Katrina Haude, Taosheng Huang, Jenice Brown, Meghan Bromwell, Teresa Campbell, Renkui Bai, Li Yang, Weiwei Zou, Xiaoting Lou, Hong Cui, Ali Al-Beshri
Publikováno v:
Human mutationREFERENCES. 42(2)
The MT-TL1 gene codes for the mitochondrial leucine transfer RNA (tRNALeu(UUR) ) necessary for mitochondrial translation. Pathogenic variants in the MT-TL1 gene result in mitochondriopathy in humans. The m.3250T>C variant in the MT-TL1 gene has been
Autor:
Agnès Rötig, Marlène Rio, Vamsi K. Mootha, Zhancheng Zhang, Nicole J. Lake, Benedetta Ruzzenente, David A. Stroud, Nathalie Bodaert, Elizabeth M. McCormick, Tara R. Richman, Zarazuela Zolkipli-Cunningham, Sander M. Houten, Marni J. Falk, Kyle Retterer, Alison G. Compton, Mingma D. Sherpa, Metodi D. Metodiev, James Byrnes, Katrina Haude, Zahra Assouline, Hayley S. Mountford, Juliette Pulman, Aleksandra Filipovska, John Christodoulou, Ingrid Cristian, Eric E. Schadt, Renkui Bai, Bryn D. Webb, Sarah E. Calvo, David R. Thorburn, Coralie Zangarelli
Publikováno v:
American journal of human genetics, 101(2), 239-254. Cell Press
The synthesis of all 13 mitochondrial DNA (mtDNA)-encoded protein subunits of the human oxidative phosphorylation (OXPHOS) system is carried out by mitochondrial ribosomes (mitoribosomes). Defects in the stability of mitoribosomal proteins or mitorib
First report of childhood progressive cerebellar atrophy due to compound heterozygous MTFMT variants
Publikováno v:
Clinical Genetics. 97:793-794
Autor:
Panfeng, Tao, Jinqiao, Sun, Zheming, Wu, Shihao, Wang, Jun, Wang, Wanjin, Li, Heling, Pan, Renkui, Bai, Jiahui, Zhang, Ying, Wang, Pui Y, Lee, Wenjing, Ying, Qinhua, Zhou, Jia, Hou, Wenjie, Wang, Bijun, Sun, Mi, Yang, Danru, Liu, Ran, Fang, Huan, Han, Zhaohui, Yang, Xin, Huang, Haibo, Li, Natalie, Deuitch, Yuan, Zhang, Dilan, Dissanayake, Katrina, Haude, Kirsty, McWalter, Chelsea, Roadhouse, Jennifer J, MacKenzie, Ronald M, Laxer, Ivona, Aksentijevich, Xiaomin, Yu, Xiaochuan, Wang, Junying, Yuan, Qing, Zhou
Publikováno v:
Nature. 577(7788)
Activation of RIPK1 controls TNF-mediated apoptosis, necroptosis and inflammatory pathways
Publikováno v:
HeartRhythm Case Reports
HeartRhythm Case Reports, Vol 2, Iss 1, Pp 32-35 (2016)
HeartRhythm Case Reports, Vol 2, Iss 1, Pp 32-35 (2016)
Autor:
Lauren Dengle, Lauren Brady, Mark A. Tarnopolsky, Katrina Haude, Brittany N. Whitley, Luis F. Escobar, Hong Cui, Ian A. Glass, Sharyn A. Lincoln, Christina Lam, Renkui Bai, Afifa Hamilton, Suzanne Hoppins, Laura L. Lackner, Jonathan Picker
Publikováno v:
Human molecular genetics. 27(21)
Mitochondrial dynamics, including mitochondrial division, fusion and transport, are integral parts of mitochondrial and cellular function. DNM1L encodes dynamin-related protein 1 (Drp1), a member of the dynamin-related protein family that is required
Publikováno v:
Journal of genetic counseling. 26(3)
Fanconi anemia (FA) is characterized by congenital malformations, progressive bone marrow failure, and predisposition to malignancy. Hematopoietic stem cell transplantation is used to treat FA, and best results are attained with sibling donors who ar