Incomplete-penetrant hypertrophic cardiomyopathy MYH7 G256E mutation causes hypercontractility and elevated mitochondrial respiration.

Autor: Soah Lee, Vander Roest, Alison S., Blair, Cheavar A., Kao, Kerry, Bremner, Samantha B., Childers, Matthew C., Pathak, Divya, Heinrich, Paul, Lee, Daniel, Chirikian, Orlando, Mohran, Saffie E., Roberts, Brock, Smith, Jacqueline E., Jahng, James W., Paik, David T., Wu, Joseph C., Gunawardane, Ruwanthi N., Ruppel, Kathleen M., Mack, David L., Pruitt, Beth L.

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America; 5/7/2024, Vol. 121 Issue 19, p1-12, 46p

Multi-scale models reveal hypertrophic cardiomyopathy MYH7 G256E mutation drives hypercontractility and elevated mitochondrial respiration

Autor: Lee, Soah, Roest, Alison S. Vander, Blair, Cheavar A., Kao, Kerry, Bremner, Samantha B., Childers, Matthew C, Pathak, Divya, Heinrich, Paul, Lee, Daniel, Chirikian, Orlando, Mohran, Saffie, Roberts, Brock, Smith, Jacqueline E., Jahng, James W., Paik, David T., Wu, Joseph C., Gunawardane, Ruwanthi N., Spudich, James A., Ruppel, Kathleen, Mack, David, Pruitt, Beth L., Regnier, Michael, Wu, Sean M., Bernstein, Daniel

Publikováno v: bioRxiv

RATIONALE: Over 200 mutations in the sarcomeric protein β-myosin heavy chain (MYH7) have been linked to hypertrophic cardiomyopathy (HCM). However, different mutations in MYH7 lead to variable penetrance and clinical severity, and alter myosin funct

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::4bdc3b766ccf172d9a46a9da8b65cc15
https://europepmc.org/articles/PMC10274883/

sj-docx-2-tej-10.1177_20417314221119628 – Supplemental material for Full-length dystrophin deficiency leads to contractile and calcium transient defects in human engineered heart tissues

Autor: Bremner, Samantha B, Mandrycky, Christian J, Leonard, Andrea, Padgett, Ruby M, Levinson, Alan R, Rehn, Ethan S, Pioner, J Manuel, Sniadecki, Nathan J, Mack, David L

Supplemental material, sj-docx-2-tej-10.1177_20417314221119628 for Full-length dystrophin deficiency leads to contractile and calcium transient defects in human engineered heart tissues by Samantha B Bremner, Christian J Mandrycky, Andrea Leonard, Ru

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9922d959aae21820749ec8fa8f08cda3

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Incomplete-penetrant hypertrophic cardiomyopathy MYH7 G256E mutation causes hypercontractility and elevated mitochondrial respiration.

Autor: Lee S; Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA 94305.; Department of Biopharmaceutical Convergence, Sungkyunkwan University School of Pharmacy, Suwon, Gyeonggi-do 16419 South Korea.; School of Pharmacy, Sungkyunkwan University School of Pharmacy, Suwon, Gyeonggi-do 16419, South Korea., Vander Roest AS; Department of Pediatrics (Cardiology), Stanford University School of Medicine, Stanford, CA 94305.; Department of Biomedical Engineering, University of Michigan, Ann Arbor, MI 48109., Blair CA; Biological Engineering, University of California, Santa Barbara, CA 93106.; Department of Physiology, College of Medicine, University of Kentucky, Lexington, KY 40536., Kao K; Department of Bioengineering, University of Washington School of Medicine and College of Engineering, Seattle, WA 98195., Bremner SB; Department of Bioengineering, University of Washington School of Medicine and College of Engineering, Seattle, WA 98195., Childers MC; Department of Bioengineering, University of Washington School of Medicine and College of Engineering, Seattle, WA 98195., Pathak D; Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA 94305.; Department of Biochemistry, Stanford University School of Medicine, Stanford, CA 94305., Heinrich P; Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA 94305., Lee D; Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA 94305., Chirikian O; Biological Engineering, University of California, Santa Barbara, CA 93106., Mohran SE; Department of Bioengineering, University of Washington School of Medicine and College of Engineering, Seattle, WA 98195., Roberts B; Allen Institute for Cell Science, Seattle, WA 98109., Smith JE; Allen Institute for Cell Science, Seattle, WA 98109., Jahng JW; Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA 94305., Paik DT; Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA 94305., Wu JC; Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA 94305.; Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305., Gunawardane RN; Allen Institute for Cell Science, Seattle, WA 98109., Ruppel KM; Department of Biochemistry, Stanford University School of Medicine, Stanford, CA 94305., Mack DL; Department of Bioengineering, University of Washington School of Medicine and College of Engineering, Seattle, WA 98195., Pruitt BL; Biological Engineering, University of California, Santa Barbara, CA 93106., Regnier M; Department of Bioengineering, University of Washington School of Medicine and College of Engineering, Seattle, WA 98195., Wu SM; Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA 94305.; Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305., Spudich JA; Department of Biochemistry, Stanford University School of Medicine, Stanford, CA 94305., Bernstein D; Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA 94305.; Department of Pediatrics (Cardiology), Stanford University School of Medicine, Stanford, CA 94305.

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2024 May 07; Vol. 121 (19), pp. e2318413121. Date of Electronic Publication: 2024 Apr 29.