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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1990 1
1992 1
1996 1
1998 3
1999 4
2000 1
2001 2
2002 4
2003 3
2004 4
2005 3
2006 3
2007 4
2008 6
2009 8
2010 5
2011 5
2012 9
2013 7
2014 9
2015 9
2016 10
2017 9
2018 6
2019 11
2020 11
2021 7
2022 5
2023 7
2024 4

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137 results

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Page 1
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.
Aerden M, Denommé-Pichon AS, Bonneau D, Bruel AL, Delanne J, Gérard B, Mazel B, Philippe C, Pinson L, Prouteau C, Putoux A, Tran Mau-Them F, Viora-Dupont É, Vitobello A, Ziegler A, Piton A, Isidor B, Francannet C, Maillard PY, Julia S, Philippe A, Schaefer E, Koene S, Ruivenkamp C, Hoffer M, Legius E, Theunis M, Keren B, Buratti J, Charles P, Courtin T, Misra-Isrie M, van Haelst M, Waisfisz Q, Wieczorek D, Schmetz A, Herget T, Kortüm F, Lisfeld J, Debray FG, Bramswig NC, Atallah I, Fodstad H, Jouret G, Almoguera B, Tahsin-Swafiri S, Santos-Simarro F, Palomares-Bralo M, López-González V, Kibaek M, Tørring PM, Renieri A, Bruno LP, Õunap K, Wojcik M, Hsieh TC, Krawitz P, Van Esch H. Aerden M, et al. Eur J Hum Genet. 2023 Apr;31(4):461-468. doi: 10.1038/s41431-023-01307-x. Epub 2023 Feb 7. Eur J Hum Genet. 2023. PMID: 36747006 Free PMC article.
Early prediction of phenotypic severity in Citrullinemia Type 1.
Zielonka M, Kölker S, Gleich F, Stützenberger N, Nagamani SCS, Gropman AL, Hoffmann GF, Garbade SF, Posset R; Urea Cycle Disorders Consortium (UCDC) and the European Registry and Network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group. Zielonka M, et al. Ann Clin Transl Neurol. 2019 Sep;6(9):1858-1871. doi: 10.1002/acn3.50886. Epub 2019 Aug 30. Ann Clin Transl Neurol. 2019. PMID: 31469252 Free PMC article.
Roles of Cullin-RING Ubiquitin Ligases in Cardiovascular Diseases.
Diaz S, Wang K, Sjögren B, Liu X. Diaz S, et al. Biomolecules. 2022 Mar 8;12(3):416. doi: 10.3390/biom12030416. Biomolecules. 2022. PMID: 35327608 Free PMC article. Review.
This review highlights the latest findings regarding the physiological and pathological roles of cullin-RING ubiquitin ligases (CRLs), an essential player in the UPS, in the cardiovascular system. ...
This review highlights the latest findings regarding the physiological and pathological roles of cullin-RING ubiquitin ligases (CRLs) …
TRIM25 mutation (p.C168*), coding for an E3 ubiquitin ligase, is a cause of early-onset autosomal dominant dementia with amyloid load and parkinsonism.
Gómez-Tortosa E, Baradaran-Heravi Y, Dillen L, Choudhury NR, Agüero Rabes P, Pérez-Pérez J, Kocoglu C, Sainz MJ, Ruiz González A, Téllez R, Cremades-Jimeno L, Cárdaba B; EU EOD Consortium; Van Broeckhoven C, Michlewski G, van der Zee J. Gómez-Tortosa E, et al. Alzheimers Dement. 2023 Jul;19(7):2805-2815. doi: 10.1002/alz.12913. Epub 2022 Dec 28. Alzheimers Dement. 2023. PMID: 36576960
WES and the segregation pattern pointed to a nonsense mutation in the TRIM25 gene (p.C168*), coding for an E3 ubiquitin ligase, which was absent in the cohorts studied. Protein studies supported a loss-of-function mechanism. DISCUSSION: This study supports a new physiopath …
WES and the segregation pattern pointed to a nonsense mutation in the TRIM25 gene (p.C168*), coding for an E3 ubiquitin ligase, which …
Lafora disease offers a unique window into neuronal glycogen metabolism.
Gentry MS, Guinovart JJ, Minassian BA, Roach PJ, Serratosa JM. Gentry MS, et al. J Biol Chem. 2018 May 11;293(19):7117-7125. doi: 10.1074/jbc.R117.803064. Epub 2018 Feb 26. J Biol Chem. 2018. PMID: 29483193 Free PMC article. Review.
LD results from mutations in the gene encoding either the glycogen phosphatase laforin or the E3 ubiquitin ligase malin. Individuals with LD develop cytoplasmic, aberrant glycogen inclusions in nearly all tissues that more closely resemble plant starch than human glycogen. …
LD results from mutations in the gene encoding either the glycogen phosphatase laforin or the E3 ubiquitin ligase malin. Individuals …
Genetics of the epilepsies.
Gutierrez-Delicado E, Serratosa JM. Gutierrez-Delicado E, et al. Curr Opin Neurol. 2004 Apr;17(2):147-53. doi: 10.1097/00019052-200404000-00011. Curr Opin Neurol. 2004. PMID: 15021241 Review.
A second gene underlying progressive myoclonus epilepsy of Lafora, NHLRC1, was shown to code for a putative E3 ubiquitin ligase. SUMMARY: Genes associated with idiopathic generalized epilepsies remain within the ion channel family. ...
A second gene underlying progressive myoclonus epilepsy of Lafora, NHLRC1, was shown to code for a putative E3 ubiquitin ligase. SUMM …
The E3 Ubiquitin-Protein Ligase Cullin 3 Regulates HIV-1 Transcription.
Langer S, Yin X, Diaz A, Portillo AJ, Gordon DE, Rogers UH, Marlett JM, Krogan NJ, Young JAT, Pache L, Chanda SK. Langer S, et al. Cells. 2020 Sep 1;9(9):2010. doi: 10.3390/cells9092010. Cells. 2020. PMID: 32882949 Free PMC article.
To shed light into the complex interplay between HIV-1 and cellular proteins, we previously performed a targeted siRNA screen to identify and characterize novel regulators of viral replication and identified Cullin 3 (Cul3) as a previously undescribed factor that negatively regul …
To shed light into the complex interplay between HIV-1 and cellular proteins, we previously performed a targeted siRNA screen to identify an …
F-box proteins: Keeping the epithelial-to-mesenchymal transition (EMT) in check.
Díaz VM, de Herreros AG. Díaz VM, et al. Semin Cancer Biol. 2016 Feb;36:71-9. doi: 10.1016/j.semcancer.2015.10.003. Epub 2015 Nov 11. Semin Cancer Biol. 2016. PMID: 26506454 Review.
F-box proteins are the key recognition subunit of multimeric E3 ubiquitin ligase complexes that participate in the proteasome degradation of specific substrates. ...
F-box proteins are the key recognition subunit of multimeric E3 ubiquitin ligase complexes that participate in the proteasome degrada …
137 results