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https://www.readbyqxmd.com/read/29925309/accurate-diagnosis-of-spinal-muscular-atrophy-and-22q11-2-deletion-syndrome-using-limited-deoxynucleotide-triphosphates-and-high-resolution-melting
#1
Xiaoqing Zhang, Bo Wang, Lichen Zhang, Guoling You, Robert A Palais, Luming Zhou, Qihua Fu
BACKGROUND: Copy number variation (CNV) has been implicated in the genetics of multiple human diseases. Spinal muscular atrophy (SMA) and 22q11.2 deletion syndrome (22q11.2DS) are two of the most common diseases which are caused by DNA copy number variations. Genetic diagnostics for these conditions would be enhanced by more accurate and efficient methods to detect the relevant CNVs. METHODS: Competitive PCR with limited deoxynucleotide triphosphates (dNTPs) and high-resolution melting (HRM) analysis was used to detect 22q11...
June 20, 2018: BMC Genomics
https://www.readbyqxmd.com/read/29802162/klhl22-promotes-mtorc1-activation-and-breast-tumorigenesis
#2
(no author information available yet)
Amino acids promote CUL3-KLHL22-mediated DEPDC5 degradation to relieve mTORC1 inhibition.
July 2018: Cancer Discovery
https://www.readbyqxmd.com/read/29769719/klhl22-activates-amino-acid-dependent-mtorc1-signalling-to-promote-tumorigenesis-and-ageing
#3
Jie Chen, Yuhui Ou, Yanyan Yang, Wen Li, Ye Xu, Yuntao Xie, Ying Liu
The mechanistic target of rapamycin complex 1 (mTORC1) is a master regulator of cell growth that responds to a diverse set of environmental cues, including amino acids1,2 . Deregulation of mTORC1 has been linked with metabolic diseases, cancer and ageing2-4 . In response to amino acids, mTORC1 is recruited by the Rag GTPases to the lysosome, its site of activation5,6 . The GATOR1 complex, consisting of DEPDC5, NPRL3 and NPRL2, displays GAP activity to inactivate Rag GTPases under amino-acid-deficient conditions 7 ...
May 2018: Nature
https://www.readbyqxmd.com/read/24912477/exome-sequencing-of-hepatoblastoma-reveals-novel-mutations-and-cancer-genes-in-the-wnt-pathway-and-ubiquitin-ligase-complex
#4
Deshui Jia, Rui Dong, Ying Jing, Dan Xu, Qifeng Wang, Lei Chen, Qigen Li, Yuping Huang, Yuannv Zhang, Zhenfeng Zhang, Li Liu, Shan Zheng, Qiang Xia, Hongyang Wang, Kuiran Dong, Xianghuo He
UNLABELLED: Hepatoblastoma (HB) is the most common primary liver tumor in children. Mutations in the β-catenin gene that lead to constitutive activation of the Wnt pathway have been detected in a large proportion of HB tumors. To identify novel mutations in HB, we performed whole-exome sequencing of six paired HB tumors and their corresponding lymphocytes. This identified 24 somatic nonsynonymous mutations in 21 genes, many of which were novel, including three novel mutations targeting the CTNNB1 (G512V) and CAPRIN2 (R968H/S969C) genes in the Wnt pathway, and genes previously shown to be involved in the ubiquitin ligase complex (SPOP, KLHL22, TRPC4AP, and RNF169)...
November 2014: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/24067371/cul3-and-protein-kinases-insights-from-plk1-klhl22-interaction
#5
Thibaud Metzger, Charlotte Kleiss, Izabela Sumara
Posttranslational mechanisms drive fidelity of cellular processes. Phosphorylation and ubiquitination of substrates represent very common, covalent, posttranslational modifications and are often co-regulated. Phosphorylation may play a critical role both by directly regulating E3-ubiquitin ligases and/or by ensuring specificity of the ubiquitination substrate. Importantly, many kinases are not only critical regulatory components of these pathways but also represent themselves the direct ubiquitination substrates...
July 15, 2013: Cell Cycle
https://www.readbyqxmd.com/read/23907128/regulating-plk1-dynamics-by-cullin3-klhl22-mediated-ubiquitylation
#6
EDITORIAL
Jochen Beck, Matthias Peter
No abstract text is available yet for this article.
August 15, 2013: Cell Cycle
https://www.readbyqxmd.com/read/23797583/cul3-and-protein-kinases-insights-from-plk1-klhl22-interaction
#7
Thibaud Metzger, Charlotte Kleiss, Izabela Sumara
Posttranslational mechanisms drive fidelity of cellular processes. Phosphorylation and ubiquitination of substrates represent very common, covalent, posttranslational modifications and are often co-regulated. Phosphorylation may play a critical role both by directly regulating E3-ubiquitin ligases and/or by ensuring specificity of the ubiquitination substrate. Importantly, many kinases are not only critical regulatory components of these pathways but also represent themselves the direct ubiquitination substrates...
June 24, 2013: Cell Cycle
https://www.readbyqxmd.com/read/23548928/cullin-plk1-from-kinetochores
#8
COMMENT
Colleen A McGourty, Michael Rape
To ensure proper attachment of all chromosomes to the spindle, PLK1 has to associate with kinetochores during prometaphase and must be released from these sites before sister chromatid separation can begin. The monoubiquitylation of PLK1 by the ubiquitin ligase CUL3-KLHL22 is now identified as a critical step in promoting the release of PLK1 from kinetochores, pushing non-proteolytic ubiquitylation into the limelight of cell division research.
April 2013: Nature Cell Biology
https://www.readbyqxmd.com/read/23455478/ubiquitylation-dependent-localization-of-plk1-in-mitosis
#9
Jochen Beck, Sarah Maerki, Markus Posch, Thibaud Metzger, Avinash Persaud, Hartmut Scheel, Kay Hofmann, Daniela Rotin, Patrick Pedrioli, Jason R Swedlow, Matthias Peter, Izabela Sumara
Polo-like kinase 1 (PLK1) critically regulates mitosis through its dynamic localization to kinetochores, centrosomes and the midzone. The polo-box domain (PBD) and activity of PLK1 mediate its recruitment to mitotic structures, but the mechanisms regulating PLK1 dynamics remain poorly understood. Here, we identify PLK1 as a target of the cullin 3 (CUL3)-based E3 ubiquitin ligase, containing the BTB adaptor KLHL22, which regulates chromosome alignment and PLK1 kinetochore localization but not PLK1 stability...
April 2013: Nature Cell Biology
https://www.readbyqxmd.com/read/19995937/the-cul3-klhl21-e3-ubiquitin-ligase-targets-aurora-b-to-midzone-microtubules-in-anaphase-and-is-required-for-cytokinesis
#10
Sarah Maerki, Michael H Olma, Titu Staubli, Patrick Steigemann, Daniel W Gerlich, Manfredo Quadroni, Izabela Sumara, Matthias Peter
Cul3 (Cullin3)-based E3 ubiquitin ligases recently emerged as critical regulators of mitosis. In this study, we identify two mammalian BTB (Bric-a-brac-Tramtrack-Broad complex)-Kelch proteins, KLHL21 and KLHL22, that interact with Cul3 and are required for efficient chromosome alignment. Interestingly, KLHL21 but not KLHL22 is necessary for cytokinesis and regulates translocation of the chromosomal passenger complex (CPC) from chromosomes to the spindle midzone in anaphase, similar to the previously described BTB-Kelch proteins KLHL9 and KLHL13...
December 14, 2009: Journal of Cell Biology
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