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Cardiac glycosides restore autophagy flux in an iPSC-derived neuronal model of WDR45 deficiency.
Papandreou A, Singh N, Gianfrancesco L, Budinger D, Barwick K, Agrotis A, Luft C, Shao Y, Lenaerts AS, Gregory A, Jeong SY, Hogarth P, Hayflick S, Barral S, Kriston-Vizi J, Gissen P, Kurian MA, Ketteler R. Papandreou A, et al. Among authors: hayflick s. bioRxiv [Preprint]. 2023 Sep 13:2023.09.13.556416. doi: 10.1101/2023.09.13.556416. bioRxiv. 2023. PMID: 37745522 Free PMC article. Preprint.
A burning question from the first international BPAN symposium: is restoration of autophagy a promising therapeutic strategy for BPAN?
Mollereau B, Hayflick SJ, Escalante R, Mauthe M, Papandreou A, Iuso A, Celle M, Aniorte S, Issa AR, Lasserre JP, Lesca G, Thobois S, Burger P, Walter L. Mollereau B, et al. Among authors: hayflick sj. Autophagy. 2023 Dec;19(12):3234-3239. doi: 10.1080/15548627.2023.2247314. Epub 2023 Aug 31. Autophagy. 2023. PMID: 37565733
A Brief History of NBIA Gene Discovery.
Hayflick SJ. Hayflick SJ. J Mov Disord. 2023 May;16(2):133-137. doi: 10.14802/jmd.23014. Epub 2023 Apr 26. J Mov Disord. 2023. PMID: 37096298 Free PMC article.
SLC39A14 Deficiency.
Tuschl K, Gregory A, Meyer E, Clayton PT, Hayflick SJ, Mills PB, Kurian MA. Tuschl K, et al. Among authors: hayflick sj. 2017 May 25 [updated 2022 Dec 8]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2017 May 25 [updated 2022 Dec 8]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 28541650 Free Books & Documents. Review.
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.
Adamo CS, Beyens A, Schiavinato A, Keene DR, Tufa SF, Mörgelin M, Brinckmann J, Sasaki T, Niehoff A, Dreiner M, Pottie L, Muiño-Mosquera L, Gulec EY, Gezdirici A, Braghetta P, Bonaldo P, Wagener R, Paulsson M, Bornaun H, De Rycke R, De Bruyne M, Baeke F, Devine WP, Gangaram B, Tam A, Balasubramanian M, Ellard S, Moore S, Symoens S, Shen J, Cole S, Schwarze U, Holmes KW, Hayflick SJ, Wiszniewski W, Nampoothiri S, Davis EC, Sakai LY, Sengle G, Callewaert B. Adamo CS, et al. Among authors: hayflick sj. Am J Hum Genet. 2022 Dec 1;109(12):2230-2252. doi: 10.1016/j.ajhg.2022.10.010. Epub 2022 Nov 8. Am J Hum Genet. 2022. PMID: 36351433 Free PMC article.
PKAN pathogenesis and treatment.
Hayflick SJ, Jeong SY, Sibon OCM. Hayflick SJ, et al. Mol Genet Metab. 2022 Nov;137(3):283-291. doi: 10.1016/j.ymgme.2022.09.011. Epub 2022 Oct 5. Mol Genet Metab. 2022. PMID: 36240582 Free PMC article. Review.
Coenzyme A precursors flow from mother to zygote and from microbiome to host.
Yu Y, van der Zwaag M, Wedman JJ, Permentier H, Plomp N, Jia X, Kanon B, Eggens-Meijer E, Buist G, Harmsen H, Kok J, Salles JF, Wertheim B, Hayflick SJ, Strauss E, Grzeschik NA, Schepers H, Sibon OCM. Yu Y, et al. Among authors: hayflick sj. Mol Cell. 2022 Jul 21;82(14):2650-2665.e12. doi: 10.1016/j.molcel.2022.05.006. Epub 2022 Jun 3. Mol Cell. 2022. PMID: 35662397 Free article.
139 results