Ivakine EA - Search Results

1

Saturation genome editing maps the functional spectrum of pathogenic VHL alleles.

Buckley M, Terwagne C, Ganner A, Cubitt L, Brewer R, Kim DK, Kajba CM, Forrester N, Dace P, De Jonghe J, Shepherd STC, Sawyer C, McEwen M, Diederichs S, Neumann-Haefelin E, Turajlic S, Ivakine EA, Findlay GM. Buckley M, et al. Among authors: ivakine ea. Nat Genet. 2024 Jul;56(7):1446-1455. doi: 10.1038/s41588-024-01800-z. Epub 2024 Jul 5. Nat Genet. 2024. PMID: 38969834 Free PMC article.

2

Maintaining skeletal muscle mass: lessons learned from hibernation.

Ivakine EA, Cohn RD. Ivakine EA, et al. Exp Physiol. 2014 Apr;99(4):632-7. doi: 10.1113/expphysiol.2013.074344. Epub 2014 Jan 17. Exp Physiol. 2014. PMID: 24443348 Free article.

3

Disruption of Src Is Associated with Phenotypes Related to Williams-Beuren Syndrome and Altered Cellular Localization of TFII-I.

Sinai L, Ivakine EA, Lam E, Deurloo M, Dida J, Zirngibl RA, Jung C, Aubin JE, Feng ZP, Yeomans J, McInnes RR, Osborne LR, Roder JC. Sinai L, et al. Among authors: ivakine ea. eNeuro. 2015 Mar 30;2(2):ENEURO.0016-14.2015. doi: 10.1523/ENEURO.0016-14.2015. eCollection 2015 Mar-Apr. eNeuro. 2015. PMID: 26464974 Free PMC article.

4

Kainate receptors coexist in a functional complex with KCC2 and regulate chloride homeostasis in hippocampal neurons.

Mahadevan V, Pressey JC, Acton BA, Uvarov P, Huang MY, Chevrier J, Puchalski A, Li CM, Ivakine EA, Airaksinen MS, Delpire E, McInnes RR, Woodin MA. Mahadevan V, et al. Among authors: ivakine ea. Cell Rep. 2014 Jun 26;7(6):1762-70. doi: 10.1016/j.celrep.2014.05.022. Epub 2014 Jun 5. Cell Rep. 2014. PMID: 24910435 Free PMC article.

5

Neto2-null mice have impaired GABAergic inhibition and are susceptible to seizures.

Mahadevan V, Dargaei Z, Ivakine EA, Hartmann AM, Ng D, Chevrier J, Ormond J, Nothwang HG, McInnes RR, Woodin MA. Mahadevan V, et al. Among authors: ivakine ea. Front Cell Neurosci. 2015 Sep 23;9:368. doi: 10.3389/fncel.2015.00368. eCollection 2015. Front Cell Neurosci. 2015. PMID: 26441539 Free PMC article.

6

Modeling Niemann-Pick disease type C in a human haploid cell line allows for patient variant characterization and clinical interpretation.

Erwood S, Brewer RA, Bily TMI, Maino E, Zhou L, Cohn RD, Ivakine EA. Erwood S, et al. Among authors: ivakine ea. Genome Res. 2019 Dec;29(12):2010-2019. doi: 10.1101/gr.250720.119. Epub 2019 Nov 21. Genome Res. 2019. PMID: 31754021 Free PMC article.

7

Allele-Specific Prevention of Nonsense-Mediated Decay in Cystic Fibrosis Using Homology-Independent Genome Editing.

Erwood S, Laselva O, Bily TMI, Brewer RA, Rutherford AH, Bear CE, Ivakine EA. Erwood S, et al. Among authors: ivakine ea. Mol Ther Methods Clin Dev. 2020 May 12;17:1118-1128. doi: 10.1016/j.omtm.2020.05.002. eCollection 2020 Jun 12. Mol Ther Methods Clin Dev. 2020. PMID: 32490033 Free PMC article.

8

Saturation variant interpretation using CRISPR prime editing.

Erwood S, Bily TMI, Lequyer J, Yan J, Gulati N, Brewer RA, Zhou L, Pelletier L, Ivakine EA, Cohn RD. Erwood S, et al. Among authors: ivakine ea. Nat Biotechnol. 2022 Jun;40(6):885-895. doi: 10.1038/s41587-021-01201-1. Epub 2022 Feb 21. Nat Biotechnol. 2022. PMID: 35190686

9

Precise template-free correction restores gene function in Tay-Sachs disease while reframing is ineffective.

Hung JE, Brewer RA, Elbakr L, Mollica A, Forguson G, Chan WS, Ivakine EA. Hung JE, et al. Among authors: ivakine ea. Mol Ther Nucleic Acids. 2024 Nov 26;36(1):102401. doi: 10.1016/j.omtn.2024.102401. eCollection 2025 Mar 11. Mol Ther Nucleic Acids. 2024. PMID: 39759878 Free PMC article.

10

A mutation-independent approach for muscular dystrophy via upregulation of a modifier gene.

Kemaladewi DU, Bassi PS, Erwood S, Al-Basha D, Gawlik KI, Lindsay K, Hyatt E, Kember R, Place KM, Marks RM, Durbeej M, Prescott SA, Ivakine EA, Cohn RD. Kemaladewi DU, et al. Among authors: ivakine ea. Nature. 2019 Aug;572(7767):125-130. doi: 10.1038/s41586-019-1430-x. Epub 2019 Jul 24. Nature. 2019. PMID: 31341277

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