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Mono- and Biallelic Protein-Truncating Variants in Alpha-Actinin 2 Cause Cardiomyopathy Through Distinct Mechanisms.

Circulation. Genomic and precision medicine

Lindholm ME, Jimenez-Morales D, Zhu H, Seo K, Amar D, Zhao C, Raja A, Madhvani R, Abramowitz S, Espenel C, Sutton S, Caleshu C, Berry GJ, Motonaga KS, Dunn K, Platt J, Ashley EA, Wheeler MT.
PMID: 34802252
Circ Genom Precis Med. 2021 Dec;14(6):e003419. doi: 10.1161/CIRCGEN.121.003419. Epub 2021 Nov 22.

BACKGROUND: ACTN2 (alpha-actinin 2) anchors actin within cardiac sarcomeres. The mechanisms linking METHODS: Patients harboring ACTN2 protein-truncating variants were identified using a custom mutation pipeline. In patient-derived iPSC-cardiomyocytes, we investigated transcriptional profiles using RNA sequencing, contractile properties using video-based...

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Lindholm ME, Jimenez-Morales D, Zhu H, et al. Mono- and Biallelic Protein-Truncating Variants in Alpha-Actinin 2 Cause Cardiomyopathy Through Distinct Mechanisms. Circ Genom Precis Med. 2021;14(6):e003419doi: 10.1161/CIRCGEN.121.003419.
Lindholm, M. E., Jimenez-Morales, D., Zhu, H., Seo, K., Amar, D., Zhao, C., Raja, A., Madhvani, R., Abramowitz, S., Espenel, C., Sutton, S., Caleshu, C., Berry, G. J., Motonaga, K. S., Dunn, K., Platt, J., Ashley, E. A., & Wheeler, M. T. (2021). Mono- and Biallelic Protein-Truncating Variants in Alpha-Actinin 2 Cause Cardiomyopathy Through Distinct Mechanisms. Circulation. Genomic and precision medicine, 14(6), e003419. https://doi.org/10.1161/CIRCGEN.121.003419
Lindholm, Malene E, et al. "Mono- and Biallelic Protein-Truncating Variants in Alpha-Actinin 2 Cause Cardiomyopathy Through Distinct Mechanisms." Circulation. Genomic and precision medicine vol. 14,6 (2021): e003419. doi: https://doi.org/10.1161/CIRCGEN.121.003419
Lindholm ME, Jimenez-Morales D, Zhu H, Seo K, Amar D, Zhao C, Raja A, Madhvani R, Abramowitz S, Espenel C, Sutton S, Caleshu C, Berry GJ, Motonaga KS, Dunn K, Platt J, Ashley EA, Wheeler MT. Mono- and Biallelic Protein-Truncating Variants in Alpha-Actinin 2 Cause Cardiomyopathy Through Distinct Mechanisms. Circ Genom Precis Med. 2021 Dec;14(6):e003419. doi: 10.1161/CIRCGEN.121.003419. Epub 2021 Nov 22. PMID: 34802252; PMCID: PMC8692448.
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Nicotinamide as a Foundation for Treating Neurodegenerative Disease and Metabolic Disorders.

Current neurovascular research

Maiese K.
PMID: 33397266
Curr Neurovasc Res. 2021;18(1):134-149. doi: 10.2174/1567202617999210104220334.

Neurodegenerative disorders impact more than one billion individuals worldwide and are intimately tied to metabolic disease that can affect another nine hundred individuals throughout the globe. Nicotinamide is a critical agent that may offer fruitful prospects for neurodegenerative diseases...

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Maiese K. Nicotinamide as a Foundation for Treating Neurodegenerative Disease and Metabolic Disorders. Curr Neurovasc Res. 2021;18(1):134-149doi: 10.2174/1567202617999210104220334.
Maiese, K. (2021). Nicotinamide as a Foundation for Treating Neurodegenerative Disease and Metabolic Disorders. Current neurovascular research, 18(1), 134-149. https://doi.org/10.2174/1567202617999210104220334
Maiese, Kenneth. "Nicotinamide as a Foundation for Treating Neurodegenerative Disease and Metabolic Disorders." Current neurovascular research vol. 18,1 (2021): 134-149. doi: https://doi.org/10.2174/1567202617999210104220334
Maiese K. Nicotinamide as a Foundation for Treating Neurodegenerative Disease and Metabolic Disorders. Curr Neurovasc Res. 2021;18(1):134-149. doi: 10.2174/1567202617999210104220334. PMID: 33397266; PMCID: PMC8254823.
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The importance of Rydberg orbitals in dissociative ionization of small hydrocarbon molecules in intense laser fields.

Scientific reports

Jochim B, Siemering R, Zohrabi M, Voznyuk O, Mahowald JB, Schmitz DG, Betsch KJ, Berry B, Severt T, Kling NG, Burwitz TG, Carnes KD, Kling MF, Ben-Itzhak I, Wells E, de Vivie-Riedle R.
PMID: 28667335
Sci Rep. 2017 Jun 30;7(1):4441. doi: 10.1038/s41598-017-04638-0.

Much of our intuition about strong-field processes is built upon studies of diatomic molecules, which typically have electronic states that are relatively well separated in energy. In polyatomic molecules, however, the electronic states are closer together, leading to more...

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Jochim B, Siemering R, Zohrabi M, et al. The importance of Rydberg orbitals in dissociative ionization of small hydrocarbon molecules in intense laser fields. Sci Rep. 2017;7(1):4441doi: 10.1038/s41598-017-04638-0.
Jochim, B., Siemering, R., Zohrabi, M., Voznyuk, O., Mahowald, J. B., Schmitz, D. G., Betsch, K. J., Berry, B., Severt, T., Kling, N. G., Burwitz, T. G., Carnes, K. D., Kling, M. F., Ben-Itzhak, I., Wells, E., & de Vivie-Riedle, R. (2017). The importance of Rydberg orbitals in dissociative ionization of small hydrocarbon molecules in intense laser fields. Scientific reports, 7(1), 4441. https://doi.org/10.1038/s41598-017-04638-0
Jochim, Bethany, et al. "The importance of Rydberg orbitals in dissociative ionization of small hydrocarbon molecules in intense laser fields." Scientific reports vol. 7,1 (2017): 4441. doi: https://doi.org/10.1038/s41598-017-04638-0
Jochim B, Siemering R, Zohrabi M, Voznyuk O, Mahowald JB, Schmitz DG, Betsch KJ, Berry B, Severt T, Kling NG, Burwitz TG, Carnes KD, Kling MF, Ben-Itzhak I, Wells E, de Vivie-Riedle R. The importance of Rydberg orbitals in dissociative ionization of small hydrocarbon molecules in intense laser fields. Sci Rep. 2017 Jun 30;7(1):4441. doi: 10.1038/s41598-017-04638-0. PMID: 28667335; PMCID: PMC5493692.
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Showing 1 to 3 of 3 entries