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Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.
medRxiv [Preprint]. 2024 Jan 26:2024.01.13.24301174. doi: 10.1101/2024.01.13.24301174.
medRxiv. 2024.
PMID: 38293138
Free PMC article.
Preprint.
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.
Ebstein F, Küry S, Most V, Rosenfelt C, Scott-Boyer MP, van Woerden GM, Besnard T, Papendorf JJ, Studencka-Turski M, Wang T, Hsieh TC, Golnik R, Baldridge D, Forster C, de Konink C, Teurlings SMW, Vignard V, van Jaarsveld RH, Ades L, Cogné B, Mignot C, Deb W, Jongmans MCJ, Cole FS, van den Boogaard MH, Wambach JA, Wegner DJ, Yang S, Hannig V, Brault JA, Zadeh N, Bennetts B, Keren B, Gélineau AC, Powis Z, Towne M, Bachman K, Seeley A, Beck AE, Morrison J, Westman R, Averill K, Brunet T, Haasters J, Carter MT, Osmond M, Wheeler PG, Forzano F, Mohammed S, Trakadis Y, Accogli A, Harrison R, Guo Y, Hakonarson H, Rondeau S, Baujat G, Barcia G, Feichtinger RG, Mayr JA, Preisel M, Laumonnier F, Kallinich T, Knaus A, Isidor B, Krawitz P, Völker U, Hammer E, Droit A, Eichler EE, Elgersma Y, Hildebrand PW, Bolduc F, Krüger E, Bézieau S.
Ebstein F, et al. Among authors: most v.
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.
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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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