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Page 1
Autophagy and Neurodegeneration: Pathogenic Mechanisms and Therapeutic Opportunities.
Menzies FM, Fleming A, Caricasole A, Bento CF, Andrews SP, Ashkenazi A, Füllgrabe J, Jackson A, Jimenez Sanchez M, Karabiyik C, Licitra F, Lopez Ramirez A, Pavel M, Puri C, Renna M, Ricketts T, Schlotawa L, Vicinanza M, Won H, Zhu Y, Skidmore J, Rubinsztein DC. Menzies FM, et al. Among authors: schlotawa l. Neuron. 2017 Mar 8;93(5):1015-1034. doi: 10.1016/j.neuron.2017.01.022. Neuron. 2017. PMID: 28279350 Free article. Review.
A152T tau allele causes neurodegeneration that can be ameliorated in a zebrafish model by autophagy induction.
Lopez A, Lee SE, Wojta K, Ramos EM, Klein E, Chen J, Boxer AL, Gorno-Tempini ML, Geschwind DH, Schlotawa L, Ogryzko NV, Bigio EH, Rogalski E, Weintraub S, Mesulam MM; Tauopathy Genetics Consortium; Fleming A, Coppola G, Miller BL, Rubinsztein DC. Lopez A, et al. Among authors: schlotawa l. Brain. 2017 Apr 1;140(4):1128-1146. doi: 10.1093/brain/awx005. Brain. 2017. PMID: 28334843 Free PMC article.
Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency.
Schlotawa L, Tyka K, Kettwig M, Ahrens-Nicklas RC, Baud M, Berulava T, Brunetti-Pierri N, Gagne A, Herbst ZM, Maguire JA, Monfregola J, Pena T, Radhakrishnan K, Schröder S, Waxman EA, Ballabio A, Dierks T, Fischer A, French DL, Gelb MH, Gärtner J. Schlotawa L, et al. EMBO Mol Med. 2023 Mar 8;15(3):e14837. doi: 10.15252/emmm.202114837. Epub 2023 Feb 15. EMBO Mol Med. 2023. PMID: 36789546 Free PMC article.
Biochemical signatures of disease severity in multiple sulfatase deficiency.
Adang LA, Mowafy S, Herbst ZM, Zhou Z, Schlotawa L, Radhakrishnan K, Bentley B, Pham V, Yu E, Pillai NR, Orchard PJ, De Castro M, Vanderver A, Pasquali M, Gelb MH, Ahrens-Nicklas RC. Adang LA, et al. Among authors: schlotawa l. J Inherit Metab Dis. 2024 Mar;47(2):374-386. doi: 10.1002/jimd.12688. Epub 2023 Nov 1. J Inherit Metab Dis. 2024. PMID: 37870986
A novel iPSC model reveals selective vulnerability of neurons in multiple sulfatase deficiency.
Pham V, Sertori Finoti L, Cassidy MM, Maguire JA, Gagne AL, Waxman EA, French DL, King K, Zhou Z, Gelb MH, Wongkittichote P, Hong X, Schlotawa L, Davidson BL, Ahrens-Nicklas RC. Pham V, et al. Among authors: schlotawa l. Mol Genet Metab. 2024 Feb;141(2):108116. doi: 10.1016/j.ymgme.2023.108116. Epub 2023 Dec 21. Mol Genet Metab. 2024. PMID: 38161139
Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement.
Ahrens-Nicklas R, Schlotawa L, Ballabio A, Brunetti-Pierri N, De Castro M, Dierks T, Eichler F, Ficicioglu C, Finglas A, Gaertner J, Kirmse B, Klepper J, Lee M, Olsen A, Parenti G, Vossough A, Vanderver A, Adang LA. Ahrens-Nicklas R, et al. Among authors: schlotawa l. Mol Genet Metab. 2018 Mar;123(3):337-346. doi: 10.1016/j.ymgme.2018.01.005. Epub 2018 Jan 31. Mol Genet Metab. 2018. PMID: 29397290 Free PMC article.
31 results