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Human SIRT5 variants with reduced stability and activity do not cause neuropathology in mice.
Yuan T, Kumar S, Skinner ME, Victor-Joseph R, Abuaita M, Keijer J, Zhang J, Kunkel TJ, Liu Y, Petrunak EM, Saunders TL, Lieberman AP, Stuckey JA, Neamati N, Al-Murshedi F, Alfadhel M, Spelbrink JN, Rodenburg R, de Boer VCJ, Lombard DB. Yuan T, et al. Among authors: rodenburg r. iScience. 2024 May 15;27(6):109991. doi: 10.1016/j.isci.2024.109991. eCollection 2024 Jun 21. iScience. 2024. PMID: 38846003 Free PMC article.
Leber's hereditary optic neuropathy like disease in MT-ATP6 variant m.8969G>A.
de Muijnck C, van Schooneveld MJ, Plomp AS, Rodenburg RJ, van Genderen MM, Boon CJF. de Muijnck C, et al. Among authors: rodenburg rj. Am J Ophthalmol Case Rep. 2024 May 3;34:102070. doi: 10.1016/j.ajoc.2024.102070. eCollection 2024 Jun. Am J Ophthalmol Case Rep. 2024. PMID: 38756953 Free PMC article.
Biallelic Variants of MRPS36 Cause a New Form of Leigh Syndrome.
Galosi S, Mancini C, Commone A, Calligari P, Caputo V, Nardecchia F, Carducci C, van den Heuvel LP, Pizzi S, Bruselles A, Niceta M, Martinelli S, Rodenburg RJ, Tartaglia M, Leuzzi V. Galosi S, et al. Among authors: rodenburg rj. Mov Disord. 2024 Jul;39(7):1225-1231. doi: 10.1002/mds.29795. Epub 2024 Apr 30. Mov Disord. 2024. PMID: 38685873
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. Among authors: rodenburg rj. 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.
313 results