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PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.
Sci Transl Med. 2023 May 31;15(698):eabo3189. doi: 10.1126/scitranslmed.abo3189. Epub 2023 May 31.
Sci Transl Med. 2023.
PMID: 37256937
Free PMC article.
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.
Küry S, Stanton JE, van Woerden G, Hsieh TC, Rosenfelt C, Scott-Boyer MP, Most V, Wang T, Papendorf JJ, de Konink C, Deb W, Vignard V, Studencka-Turski M, Besnard T, Hajdukowicz AM, Thiel F, Möller S, Florenceau L, Cuinat S, Marsac S, Wentzensen I, Tuttle A, Forster C, Striesow J, Golnik R, Ortiz D, Jenkins L, Rosenfeld JA, Ziegler A, Houdayer C, Bonneau D, Torti E, Begtrup A, Monaghan KG, Mullegama SV, Volker-Touw CMLN, van Gassen KLI, Oegema R, de Pagter M, Steindl K, Rauch A, Ivanovski I, McDonald K, Boothe E, Dauber A, Baker J, Fabie NAV, Bernier RA, Turner TN, Srivastava S, Dies KA, Swanson L, Costin C, Jobling RK, Pappas J, Rabin R, Niyazov D, Tsai AC, Kovak K, Beck DB, Malicdan M, Adams DR, Wolfe L, Ganetzky RD, Muraresku C, Babikyan D, Sedláček Z, Hančárová M, Timberlake AT, Al Saif H, Nestler B, King K, Hajianpour MJ, Costain G, Prendergast D, Li C, Geneviève D, Vitobello A, Sorlin A, Philippe C, Harel T, Toker O, Sabir A, Lim D, Hamilton M, Bryson L, Cleary E, Weber S, Hoffman TL, Cueto-González AM, Tizzano EF, Gómez-Andrés D, Codina-Solà M, Ververi A, Pavlidou E, Lambropoulos A, Garganis K, Rio M, Levy J, Jurgensmeyer S, McRae AM, Lessard MK, D'Agostino MD, De Bi…
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Küry S, et al. Among authors: most v.
medRxiv [Preprint]. 2024 Jan 26:2024.01.13.24301174. doi: 10.1101/2024.01.13.24301174.
medRxiv. 2024.
PMID: 38293138
Free PMC article.
Preprint.
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Molecular basis for variations in the sensitivity of pathogenic rhodopsin variants to 9-cis-retinal.
Roushar FJ, McKee AG, Kuntz CP, Ortega JT, Penn WD, Woods H, Chamness LM, Most V, Meiler J, Jastrzebska B, Schlebach JP.
Roushar FJ, et al. Among authors: most v.
J Biol Chem. 2022 Aug;298(8):102266. doi: 10.1016/j.jbc.2022.102266. Epub 2022 Jul 16.
J Biol Chem. 2022.
PMID: 35850308
Free PMC article.
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Systematic profiling of temperature- and retinal-sensitive rhodopsin variants by deep mutational scanning.
McKee AG, Kuntz CP, Ortega JT, Woods H, Most V, Roushar FJ, Meiler J, Jastrzebska B, Schlebach JP.
McKee AG, et al. Among authors: most v.
J Biol Chem. 2021 Dec;297(6):101359. doi: 10.1016/j.jbc.2021.101359. Epub 2021 Oct 29.
J Biol Chem. 2021.
PMID: 34756884
Free PMC article.
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Metabolite profiling of Alzheimer's disease cerebrospinal fluid.
Czech C, Berndt P, Busch K, Schmitz O, Wiemer J, Most V, Hampel H, Kastler J, Senn H.
Czech C, et al. Among authors: most v.
PLoS One. 2012;7(2):e31501. doi: 10.1371/journal.pone.0031501. Epub 2012 Feb 16.
PLoS One. 2012.
PMID: 22359596
Free PMC article.
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