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Current insights in ultra-rare adenylosuccinate synthetase 1 myopathy - meeting report on the First Clinical and Scientific Conference. 3 June 2024, National Centre for Advancing Translational Science, Rockville, Maryland, the United States of America.
Rybalka E, Park HJ, Nalini A, Baskar D, Polavarapu K, Durmus H, Xia Y, Wan L, Shieh PB, Moghadaszadeh B, Beggs AH, Mack DL, Smith AST, Hanna-Rose W, Jinnah HA, Timpani CA, Shen M, Upadhyay J, Brault JJ, Hall MD, Baweja N, Kakkar P. Rybalka E, et al. Among authors: mack dl. Orphanet J Rare Dis. 2024 Nov 26;19(1):438. doi: 10.1186/s13023-024-03429-x. Orphanet J Rare Dis. 2024. PMID: 39593137 Free PMC article.
Incomplete-penetrant hypertrophic cardiomyopathy MYH7 G256E mutation causes hypercontractility and elevated mitochondrial respiration.
Lee S, Vander Roest AS, Blair CA, Kao K, Bremner SB, Childers MC, Pathak D, Heinrich P, Lee D, Chirikian O, Mohran SE, Roberts B, Smith JE, Jahng JW, Paik DT, Wu JC, Gunawardane RN, Ruppel KM, Mack DL, Pruitt BL, Regnier M, Wu SM, Spudich JA, Bernstein D. Lee S, et al. Among authors: mack dl. Proc Natl Acad Sci U S A. 2024 May 7;121(19):e2318413121. doi: 10.1073/pnas.2318413121. Epub 2024 Apr 29. Proc Natl Acad Sci U S A. 2024. PMID: 38683993 Free PMC article.
Calcium handling maturation and adaptation to increased substrate stiffness in human iPSC-derived cardiomyocytes: The impact of full-length dystrophin deficiency.
Pioner JM, Santini L, Palandri C, Langione M, Grandinetti B, Querceto S, Martella D, Mazzantini C, Scellini B, Giammarino L, Lupi F, Mazzarotto F, Gowran A, Rovina D, Santoro R, Pompilio G, Tesi C, Parmeggiani C, Regnier M, Cerbai E, Mack DL, Poggesi C, Ferrantini C, Coppini R. Pioner JM, et al. Among authors: mack dl. Front Physiol. 2022 Nov 7;13:1030920. doi: 10.3389/fphys.2022.1030920. eCollection 2022. Front Physiol. 2022. PMID: 36419836 Free PMC article.
High mobility group box 1 (HMGB1) is a potential disease biomarker in cell and mouse models of Duchenne muscular dystrophy.
Slick RA, Sutton J, Haberman M, O'Brien BS, Tinklenberg JA, Mardikar A, Prom MJ, Beatka M, Gartz M, Vanden Avond MA, Siebers E, Mack DL, Gonzalez JP, Ebert AD, Nagaraju K, Lawlor MW. Slick RA, et al. Among authors: mack dl. Biol Open. 2024 Sep 15;13(9):bio060542. doi: 10.1242/bio.060542. Epub 2024 Sep 5. Biol Open. 2024. PMID: 39158383 Free PMC article.
Engineered Heart Tissues for Standard 96-Well Tissue Culture Plates.
Goldstein AJ, Padgett RM, Bremner SB, Higashi T, Obenaus AM, Bolduan S, Mack DL, Sniadecki NJ. Goldstein AJ, et al. Among authors: mack dl. Methods Mol Biol. 2024;2805:89-100. doi: 10.1007/978-1-0716-3854-5_5. Methods Mol Biol. 2024. PMID: 39008175
64 results