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KBTBD13 is an actin-binding protein that modulates muscle kinetics.
de Winter JM, Molenaar JP, Yuen M, van der Pijl R, Shen S, Conijn S, van de Locht M, Willigenburg M, Bogaards SJ, van Kleef ES, Lassche S, Persson M, Rassier DE, Sztal TE, Ruparelia AA, Oorschot V, Ramm G, Hall TE, Xiong Z, Johnson CN, Li F, Kiss B, Lozano-Vidal N, Boon RA, Marabita M, Nogara L, Blaauw B, Rodenburg RJ, Küsters B, Doorduin J, Beggs AH, Granzier H, Campbell K, Ma W, Irving T, Malfatti E, Romero NB, Bryson-Richardson RJ, van Engelen BG, Voermans NC, Ottenheijm CA. de Winter JM, et al. J Clin Invest. 2024 Feb 1;134(3):e179111. doi: 10.1172/JCI179111. J Clin Invest. 2024. PMID: 38299595 Free PMC article. No abstract available.
Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.
Malfatti E, Lehtokari VL, Böhm J, De Winter JM, Schäffer U, Estournet B, Quijano-Roy S, Monges S, Lubieniecki F, Bellance R, Viou MT, Madelaine A, Wu B, Taratuto AL, Eymard B, Pelin K, Fardeau M, Ottenheijm CA, Wallgren-Pettersson C, Laporte J, Romero NB. Malfatti E, et al. Among authors: de winter jm. Acta Neuropathol Commun. 2014 Apr 12;2:44. doi: 10.1186/2051-5960-2-44. Acta Neuropathol Commun. 2014. PMID: 24725366 Free PMC article.
Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres.
Yuen M, Cooper ST, Marston SB, Nowak KJ, McNamara E, Mokbel N, Ilkovski B, Ravenscroft G, Rendu J, de Winter JM, Klinge L, Beggs AH, North KN, Ottenheijm CA, Clarke NF. Yuen M, et al. Among authors: de winter jm. Hum Mol Genet. 2015 Nov 15;24(22):6278-92. doi: 10.1093/hmg/ddv334. Epub 2015 Aug 24. Hum Mol Genet. 2015. PMID: 26307083 Free PMC article.
A two-faced cysteine residue modulates skeletal muscle contraction. Focus on "S-nitrosylation and S-glutathionylation of Cys134 on troponin I have opposing competitive actions on Ca2+ sensitivity in rat fast-twitch muscle fibers.
de Winter JM, Ottenheijm CA. de Winter JM, et al. Am J Physiol Cell Physiol. 2017 Mar 1;312(3):C314-C315. doi: 10.1152/ajpcell.00009.2017. Epub 2017 Feb 1. Am J Physiol Cell Physiol. 2017. PMID: 28148496 Free article. No abstract available.
Sarcomere Dysfunction in Nemaline Myopathy.
de Winter JM, Ottenheijm CAC. de Winter JM, et al. J Neuromuscul Dis. 2017;4(2):99-113. doi: 10.3233/JND-160200. J Neuromuscul Dis. 2017. PMID: 28436394 Free PMC article. Review.
34 results