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Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.
Brugger M, Lauri A, Zhen Y, Gramegna LL, Zott B, Sekulić N, Fasano G, Kopajtich R, Cordeddu V, Radio FC, Mancini C, Pizzi S, Paradisi G, Zanni G, Vasco G, Carrozzo R, Palombo F, Tonon C, Lodi R, La Morgia C, Arelin M, Blechschmidt C, Finck T, Sørensen V, Kreiser K, Strobl-Wildemann G, Daum H, Michaelson-Cohen R, Ziccardi L, Zampino G, Prokisch H, Abou Jamra R, Fiorini C, Arzberger T, Winkelmann J, Caporali L, Carelli V, Stenmark H, Tartaglia M, Wagner M. Brugger M, et al. Among authors: stenmark h. Am J Hum Genet. 2024 Mar 7;111(3):594-613. doi: 10.1016/j.ajhg.2024.02.005. Epub 2024 Feb 28. Am J Hum Genet. 2024. PMID: 38423010 Free PMC article.
A dual-purpose fusion complex in autophagy.
Zhen Y, Stenmark H. Zhen Y, et al. Among authors: stenmark h. Cell Res. 2024 Mar;34(3):183-184. doi: 10.1038/s41422-023-00925-w. Cell Res. 2024. PMID: 38228880 No abstract available.
Lysophagy prevents neurotoxic aggregate transmission.
Radulovic M, Stenmark H. Radulovic M, et al. Among authors: stenmark h. Proc Natl Acad Sci U S A. 2024 Jan 16;121(3):e2321181121. doi: 10.1073/pnas.2321181121. Epub 2024 Jan 8. Proc Natl Acad Sci U S A. 2024. PMID: 38190545 Free PMC article. No abstract available.
Removal of hypersignaling endosomes by simaphagy.
Migliano SM, Schultz SW, Wenzel EM, Takáts S, Liu D, Mørk S, Tan KW, Rusten TE, Raiborg C, Stenmark H. Migliano SM, et al. Among authors: stenmark h. Autophagy. 2023 Oct 16:1-23. doi: 10.1080/15548627.2023.2267958. Online ahead of print. Autophagy. 2023. PMID: 37840274
302 results