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Page 1
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
Vissers LELM, Kalvakuri S, de Boer E, Geuer S, Oud M, van Outersterp I, Kwint M, Witmond M, Kersten S, Polla DL, Weijers D, Begtrup A, McWalter K, Ruiz A, Gabau E, Morton JEV, Griffith C, Weiss K, Gamble C, Bartley J, Vernon HJ, Brunet K, Ruivenkamp C, Kant SG, Kruszka P, Larson A, Afenjar A, Billette de Villemeur T, Nugent K; DDD Study; Raymond FL, Venselaar H, Demurger F, Soler-Alfonso C, Li D, Bhoj E, Hayes I, Hamilton NP, Ahmad A, Fisher R, van den Born M, Willems M, Sorlin A, Delanne J, Moutton S, Christophe P, Mau-Them FT, Vitobello A, Goel H, Massingham L, Phornphutkul C, Schwab J, Keren B, Charles P, Vreeburg M, De Simone L, Hoganson G, Iascone M, Milani D, Evenepoel L, Revencu N, Ward DI, Burns K, Krantz I, Raible SE, Murrell JR, Wood K, Cho MT, van Bokhoven H, Muenke M, Kleefstra T, Bodmer R, de Brouwer APM. Vissers LELM, et al. Among authors: kalvakuri s. Am J Hum Genet. 2020 Jul 2;107(1):164-172. doi: 10.1016/j.ajhg.2020.05.017. Epub 2020 Jun 17. Am J Hum Genet. 2020. PMID: 32553196 Free PMC article.
Regulation of parkin and PINK1 by neddylation.
Choo YS, Vogler G, Wang D, Kalvakuri S, Iliuk A, Tao WA, Bodmer R, Zhang Z. Choo YS, et al. Among authors: kalvakuri s. Hum Mol Genet. 2012 Jun 1;21(11):2514-23. doi: 10.1093/hmg/dds070. Epub 2012 Mar 2. Hum Mol Genet. 2012. PMID: 22388932 Free PMC article.
SLP-2 interacts with Parkin in mitochondria and prevents mitochondrial dysfunction in Parkin-deficient human iPSC-derived neurons and Drosophila.
Zanon A, Kalvakuri S, Rakovic A, Foco L, Guida M, Schwienbacher C, Serafin A, Rudolph F, Trilck M, Grünewald A, Stanslowsky N, Wegner F, Giorgio V, Lavdas AA, Bodmer R, Pramstaller PP, Klein C, Hicks AA, Pichler I, Seibler P. Zanon A, et al. Among authors: kalvakuri s. Hum Mol Genet. 2017 Jul 1;26(13):2412-2425. doi: 10.1093/hmg/ddx132. Hum Mol Genet. 2017. PMID: 28379402 Free PMC article.
Corrigendum: SLP-2 interacts with Parkin in mitochondria and prevents mitochondrial dysfunction in Parkin-deficient human iPSC-derived neurons and Drosophila.
Zanon A, Kalvakuri S, Rakovic A, Foco L, Guida M, Schwienbacher C, Serafin A, Rudolph F, Trilck M, Grünewald A, Stanslowsky N, Wegner F, Giorgio V, Lavdas AA, Bodmer R, Pramstaller PP, Klein C, Hicks AA, Pichler I, Philip S. Zanon A, et al. Among authors: kalvakuri s. Hum Mol Genet. 2019 Apr 1;28(7):1225. doi: 10.1093/hmg/ddy408. Hum Mol Genet. 2019. PMID: 30517638 Free PMC article. No abstract available.
Silencing of CCR4-NOT complex subunits affects heart structure and function.
Elmén L, Volpato CB, Kervadec A, Pineda S, Kalvakuri S, Alayari NN, Foco L, Pramstaller PP, Ocorr K, Rossini A, Cammarato A, Colas AR, Hicks AA, Bodmer R. Elmén L, et al. Among authors: kalvakuri s. Dis Model Mech. 2020 Jul 20;13(7):dmm044727. doi: 10.1242/dmm.044727. Dis Model Mech. 2020. PMID: 32471864 Free PMC article.
[No title available]
[No authors listed] [No authors listed] PMID: 34005014
Mitochondrial MICOS complex genes, implicated in hypoplastic left heart syndrome, maintain cardiac contractility and actomyosin integrity.
Birker K, Ge S, Kirkland NJ, Theis JL, Marchant J, Fogarty ZC, Missinato MA, Kalvakuri S, Grossfeld P, Engler AJ, Ocorr K, Nelson TJ, Colas AR, Olson TM, Vogler G, Bodmer R. Birker K, et al. Among authors: kalvakuri s. Elife. 2023 Jul 5;12:e83385. doi: 10.7554/eLife.83385. Elife. 2023. PMID: 37404133 Free PMC article.
Conserved Role of the Large Conductance Calcium-Activated Potassium Channel, KCa1.1, in Sinus Node Function and Arrhythmia Risk.
Pineda S, Nikolova-Krstevski V, Leimena C, Atkinson AJ, Altekoester AK, Cox CD, Jacoby A, Huttner IG, Ju YK, Soka M, Ohanian M, Trivedi G, Kalvakuri S, Birker K, Johnson R, Molenaar P, Kuchar D, Allen DG, van Helden DF, Harvey RP, Hill AP, Bodmer R, Vogler G, Dobrzynski H, Ocorr K, Fatkin D. Pineda S, et al. Among authors: kalvakuri s. Circ Genom Precis Med. 2021 Apr;14(2):e003144. doi: 10.1161/CIRCGEN.120.003144. Epub 2021 Feb 25. Circ Genom Precis Med. 2021. PMID: 33629867 Free PMC article.