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Pathomechanisms of Monoallelic variants in TTN causing skeletal muscle disease.
Gohlke J, Lindqvist J, Hourani Z, Heintzman S, Tonino P, Elsheikh B, Morales A, Vatta M, Burghes A, Granzier H, Roggenbuck J. Gohlke J, et al. Among authors: granzier h. Hum Mol Genet. 2024 Nov 20;33(23):2003-2023. doi: 10.1093/hmg/ddae136. Hum Mol Genet. 2024. PMID: 39277846 Free PMC article.
KBTBD13 is a novel cardiomyopathy gene.
de Winter JM, Bouman K, Strom J, Methawasin M, Jongbloed JDH, van der Roest W, Wijngaarden JV, Timmermans J, Nijveldt R, van den Heuvel F, Kamsteeg EJ, van Engelen BG, Galli R, Bogaards SJP, Boon RA, van der Pijl RJ, Granzier H, Koeleman B, Amin AS, van der Velden J, van Tintelen JP, van den Berg MP, van Spaendonck-Zwarts KY, Voermans NC, Ottenheijm CAC. de Winter JM, et al. Among authors: granzier h. Hum Mutat. 2022 Dec;43(12):1860-1865. doi: 10.1002/humu.24499. Epub 2022 Nov 20. Hum Mutat. 2022. PMID: 36335629 Free PMC article.
NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy.
Ranu N, Laitila J, Dugdale HF, Mariano J, Kolb JS, Wallgren-Pettersson C, Witting N, Vissing J, Vilchez JJ, Fiorillo C, Zanoteli E, Auranen M, Jokela M, Tasca G, Claeys KG, Voermans NC, Palmio J, Huovinen S, Moggio M, Beck TN, Kontrogianni-Konstantopoulos A, Granzier H, Ochala J. Ranu N, et al. Among authors: granzier h. Acta Neuropathol Commun. 2022 Dec 17;10(1):185. doi: 10.1186/s40478-022-01491-9. Acta Neuropathol Commun. 2022. PMID: 36528760 Free PMC article.
Aberrations in Energetic Metabolism and Stress-Related Pathways Contribute to Pathophysiology in the Neb Conditional Knockout Mouse Model of Nemaline Myopathy.
Slick RA, Tinklenberg JA, Sutton J, Zhang L, Meng H, Beatka MJ, Vanden Avond M, Prom MJ, Ott E, Montanaro F, Heisner J, Toro R, Granzier H, Geurts AM, Stowe DF, Hill RB, Lawlor MW. Slick RA, et al. Among authors: granzier h. Am J Pathol. 2023 Oct;193(10):1528-1547. doi: 10.1016/j.ajpath.2023.06.009. Epub 2023 Jul 6. Am J Pathol. 2023. PMID: 37422147 Free PMC article.
297 results