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Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Among authors: roy b, roy s. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
Intracerebroventricular dosing of N-sulfoglucosamine sulfohydrolase in mucopolysaccharidosis IIIA mice reduces markers of brain lysosomal dysfunction.
Magat J, Jones S, Baridon B, Agrawal V, Wong H, Giaramita A, Mangini L, Handyside B, Vitelli C, Parker M, Yeung N, Zhou Y, Pungor E, Slabodkin I, Gorostiza O, Aguilera A, Lo MJ, Alcozie S, Christianson TM, Tiger PMN, Vincelette J, Fong S, Gil G, Hague C, Lawrence R, Wendt DJ, Lebowitz JH, Bunting S, Bullens S, Crawford BE, Roy SM, Woloszynek JC. Magat J, et al. Among authors: roy sm. J Biol Chem. 2022 Dec;298(12):102625. doi: 10.1016/j.jbc.2022.102625. Epub 2022 Oct 26. J Biol Chem. 2022. PMID: 36306823 Free PMC article.
Therapeutic treatment with the anti-inflammatory drug candidate MW151 may partially reduce memory impairment and normalizes hippocampal metabolic markers in a mouse model of comorbid amyloid and vascular pathology.
Braun DJ, Powell DK, McLouth CJ, Roy SM, Watterson DM, Van Eldik LJ. Braun DJ, et al. Among authors: roy sm. PLoS One. 2022 Jan 26;17(1):e0262474. doi: 10.1371/journal.pone.0262474. eCollection 2022. PLoS One. 2022. PMID: 35081152 Free PMC article.
68 results