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Page 1
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
Küry S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Denommé-Pichon AS, Lesca G, Sellars EA, Berg J, Carré W, Busk ØL, van Bon BWM, Waugh JL, Deardorff M, Hoganson GE, Bosanko KB, Johnson DS, Dabir T, Holla ØL, Sarkar A, Tveten K, de Bellescize J, Braathen GJ, Terhal PA, Grange DK, van Haeringen A, Lam C, Mirzaa G, Burton J, Bhoj EJ, Douglas J, Santani AB, Nesbitt AI, Helbig KL, Andrews MV, Begtrup A, Tang S, van Gassen KLI, Juusola J, Foss K, Enns GM, Moog U, Hinderhofer K, Paramasivam N, Lincoln S, Kusako BH, Lindenbaum P, Charpentier E, Nowak CB, Cherot E, Simonet T, Ruivenkamp CAL, Hahn S, Brownstein CA, Xia F, Schmitt S, Deb W, Bonneau D, Nizon M, Quinquis D, Chelly J, Rudolf G, Sanlaville D, Parent P, Gilbert-Dussardier B, Toutain A, Sutton VR, Thies J, Peart-Vissers LELM, Boisseau P, Vincent M, Grabrucker AM, Dubourg C; Undiagnosed Diseases Network; Tan WH, Verbeek NE, Granzow M, Santen GWE, Shendure J, Isidor B, Pasquier L, Redon R, Yang Y, State MW, Kleefstra T, Cogné B; GEM HUGO; Deciphering Developmental Disorders Study; Petrovski S, Retterer K, Eichl… See abstract for full author list ➔ Küry S, et al. Am J Hum Genet. 2017 Nov 2;101(5):768-788. doi: 10.1016/j.ajhg.2017.10.003. Am J Hum Genet. 2017. PMID: 29100089 Free PMC article.
Through a multi-center collaborative study based on a whole-exome sequencing approach, we identified 19 exceedingly rare de novo CAMK2A or CAMK2B variants in 24 unrelated individuals with intellectual disability. Variants were assessed for their effect on CAMK2 function an …
Through a multi-center collaborative study based on a whole-exome sequencing approach, we identified 19 exceedingly rare de novo CAMK2A
PDSS1-Mediated Activation of CAMK2A-STAT3 Signaling Promotes Metastasis in Triple-Negative Breast Cancer.
Yu TJ, Liu YY, Li XG, Lian B, Lu XX, Jin X, Shao ZM, Hu X, Di GH, Jiang YZ. Yu TJ, et al. Cancer Res. 2021 Nov 1;81(21):5491-5505. doi: 10.1158/0008-5472.CAN-21-0747. Epub 2021 Aug 18. Cancer Res. 2021. PMID: 34408002
Mechanistically, PDSS1, but not a catalytically inactive mutant, positively regulated the cellular level of coenzyme Q10 (CoQ10) and intracellular calcium levels, thereby inducing CAMK2A phosphorylation, which is essential for STAT3 phosphorylation in the cytoplasm. ...Tak …
Mechanistically, PDSS1, but not a catalytically inactive mutant, positively regulated the cellular level of coenzyme Q10 (CoQ10) and intrace …
Camk2a-Cre and Tshz3 Expression in Mouse Striatal Cholinergic Interneurons: Implications for Autism Spectrum Disorder.
Caubit X, Arbeille E, Chabbert D, Desprez F, Messak I, Fatmi A, Habermann B, Gubellini P, Fasano L. Caubit X, et al. Front Genet. 2021 Jul 12;12:683959. doi: 10.3389/fgene.2021.683959. eCollection 2021. Front Genet. 2021. PMID: 34349780 Free PMC article.
These data and the phenotypic similarity between the mice with Tshz3 haploinsufficiency and Camk2a-Cre-dependent conditional deletion of Tshz3 (Camk2a-cKO) prompted us to better characterize the expression of Tshz3 and the activity of Camk2a-Cre transgene in …
These data and the phenotypic similarity between the mice with Tshz3 haploinsufficiency and Camk2a-Cre-dependent conditional deletion …
CAMK2A supported tumor initiating cells of lung adenocarcinoma by upregulating SOX2 through EZH2 phosphorylation.
Wang SQ, Liu J, Qin J, Zhu Y, Tin VP, Yam JWP, Wong MP, Xiao ZJ. Wang SQ, et al. Cell Death Dis. 2020 Jun 1;11(6):410. doi: 10.1038/s41419-020-2553-6. Cell Death Dis. 2020. PMID: 32483123 Free PMC article.
Functionally, CAMK2A enhanced TIC phenotypes in vitro and in vivo. CAMK2A regulated SOX2 expression by reducing H3K27me3 and EZH2 occupancy at SOX2 regulatory regions, leading to its epigenetic de-repression with functional consequences. Further, CAMK2A cause …
Functionally, CAMK2A enhanced TIC phenotypes in vitro and in vivo. CAMK2A regulated SOX2 expression by reducing H3K27me3 and E …
Association of CaMK2A and MeCP2 signaling pathways with cognitive ability in adolescents.
Lee LC, Su MT, Huang HY, Cho YC, Yeh TK, Chang CY. Lee LC, et al. Mol Brain. 2021 Oct 4;14(1):152. doi: 10.1186/s13041-021-00858-8. Mol Brain. 2021. PMID: 34607601 Free PMC article.
Additionally, methyl-CpG binding protein 2 (MeCP2), a downstream target of CaMK2A, was found to activate the expression of CaMK2A, suggesting that MeCP2 and CaMK2A can form a positive feedback loop. In summary, two members of the glutamatergic signaling pathw …
Additionally, methyl-CpG binding protein 2 (MeCP2), a downstream target of CaMK2A, was found to activate the expression of CaMK2A
Camk2a suppresses denervated muscle atrophy by maintaining the Ca2+ homeostasis in muscle cells.
Zhang Y, Xia M, Zhao T, Zhang Q, Li R, Yang L. Zhang Y, et al. Cell Mol Biol (Noisy-le-grand). 2023 Nov 15;69(11):25-29. doi: 10.14715/cmb/2023.69.11.4. Cell Mol Biol (Noisy-le-grand). 2023. PMID: 38015546
In conclusion, our study provides the first evidence that Camk2a can alleviate calcium overload in muscle cells and ameliorate denervated muscle atrophy. Our findings suggest that Camk2a may serve as a crucial regulatory target in denervated muscle atrophy....
In conclusion, our study provides the first evidence that Camk2a can alleviate calcium overload in muscle cells and ameliorate denerv …
MicroRNA-3200-3p targeting CAMK2A modulates the proliferation and metastasis of glioma in vitro.
Wang H, Zeng Z, Yi R, Luo J, Chen J, Lou J. Wang H, et al. Bioengineered. 2022 Mar;13(3):7785-7797. doi: 10.1080/21655979.2022.2048995. Bioengineered. 2022. PMID: 35287547 Free PMC article.
The relative level of miR-3200-3p is strongly associated with biological features, including proliferation, colony formation, and metastasis. Additionally, Ca(2+)/calmodulin dependent kinase 2a (CAMK2A) might be the direct target gene of miR-3200-3p, and CAMK2A over …
The relative level of miR-3200-3p is strongly associated with biological features, including proliferation, colony formation, and metastasis …
Adult Camk2a gene reinstatement restores the learning and plasticity deficits of Camk2a knockout mice.
Rigter PMF, Wallaard I, Aghadavoud Jolfaei M, Kingma J, Post L, Elgersma M, Elgersma Y, van Woerden GM. Rigter PMF, et al. iScience. 2022 Oct 8;25(11):105303. doi: 10.1016/j.isci.2022.105303. eCollection 2022 Nov 18. iScience. 2022. PMID: 36304100 Free PMC article.
To answer this question, we generated an inducible Camk2a mouse model, which allows us to express CAMK2A at any desired time. ...These results suggest that CAMK2A does not play a critical irreversible role in neurodevelopment, which is of importance for futur …
To answer this question, we generated an inducible Camk2a mouse model, which allows us to express CAMK2A at any desired time. …
Cerebrospinal fluid camk2a levels at baseline predict long-term progression in multiple sclerosis.
Sohaei D, Thebault S, Avery LM, Batruch I, Lam B, Xu W, Saadeh RS, Scarisbrick IA, Diamandis EP, Prassas I, Freedman MS. Sohaei D, et al. Clin Proteomics. 2023 Aug 29;20(1):33. doi: 10.1186/s12014-023-09418-9. Clin Proteomics. 2023. PMID: 37644477 Free PMC article.

RESULTS: We identified six CSF brain-specific proteins that significantly differentiated MS from controls (p < 0.05) and nine proteins that could predict disease course over the next decade. CAMK2A emerged as a biomarker candidate that could discriminate between MS and

RESULTS: We identified six CSF brain-specific proteins that significantly differentiated MS from controls (p < 0.05) and nine proteins th

Combining NGN2 Programming with Developmental Patterning Generates Human Excitatory Neurons with NMDAR-Mediated Synaptic Transmission.
Nehme R, Zuccaro E, Ghosh SD, Li C, Sherwood JL, Pietilainen O, Barrett LE, Limone F, Worringer KA, Kommineni S, Zang Y, Cacchiarelli D, Meissner A, Adolfsson R, Haggarty S, Madison J, Muller M, Arlotta P, Fu Z, Feng G, Eggan K. Nehme R, et al. Cell Rep. 2018 May 22;23(8):2509-2523. doi: 10.1016/j.celrep.2018.04.066. Cell Rep. 2018. PMID: 29791859 Free PMC article.
The most differentiated neurons could be identified using a CAMK2A::GFP reporter gene and exhibited greater functionality, including NMDAR-mediated synaptic transmission. ...
The most differentiated neurons could be identified using a CAMK2A::GFP reporter gene and exhibited greater functionality, including …
484 results