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Page 1
Sphingolipids in neurodegenerative diseases.
Pan X, Dutta D, Lu S, Bellen HJ. Pan X, et al. Front Neurosci. 2023 Feb 16;17:1137893. doi: 10.3389/fnins.2023.1137893. eCollection 2023. Front Neurosci. 2023. PMID: 36875645 Free PMC article. Review.
Bi-allelic variants in INTS11 are associated with a complex neurological disorder.
Tepe B, Macke EL, Niceta M, Weisz Hubshman M, Kanca O, Schultz-Rogers L, Zarate YA, Schaefer GB, Granadillo De Luque JL, Wegner DJ, Cogne B, Gilbert-Dussardier B, Le Guillou X, Wagner EJ, Pais LS, Neil JE, Mochida GH, Walsh CA, Magal N, Drasinover V, Shohat M, Schwab T, Schmitz C, Clark K, Fine A, Lanpher B, Gavrilova R, Blanc P, Burglen L, Afenjar A, Steel D, Kurian MA, Prabhakar P, Gößwein S, Di Donato N, Bertini ES; Undiagnosed Diseases Network; Wangler MF, Yamamoto S, Tartaglia M, Klee EW, Bellen HJ. Tepe B, et al. Am J Hum Genet. 2023 May 4;110(5):774-789. doi: 10.1016/j.ajhg.2023.03.012. Epub 2023 Apr 12. Am J Hum Genet. 2023. PMID: 37054711 Free PMC article.
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.
Nil Z, Deshwar AR, Huang Y, Barish S, Zhang X, Choufani S, Le Quesne Stabej P, Hayes I, Yap P, Haldeman-Englert C, Wilson C, Prescott T, Tveten K, Vøllo A, Haynes D, Wheeler PG, Zon J, Cytrynbaum C, Jobling R, Blyth M, Banka S, Afenjar A, Mignot C, Robin-Renaldo F, Keren B, Kanca O, Mao X, Wegner DJ, Sisco K, Shinawi M; Undiagnosed Disease Network; Wangler MF, Weksberg R, Yamamoto S, Costain G, Bellen HJ. Nil Z, et al. Am J Hum Genet. 2023 Nov 2;110(11):1919-1937. doi: 10.1016/j.ajhg.2023.09.009. Epub 2023 Oct 11. Am J Hum Genet. 2023. PMID: 37827158 Free PMC article.
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.
Pan X, Tao AM, Lu S, Ma M, Hannan SB, Slaugh R, Drewes Williams S, O'Grady L, Kanca O, Person R, Carter MT, Platzer K, Schnabel F, Abou Jamra R, Roberts AE, Newburger JW, Revah-Politi A, Granadillo JL, Stegmann APA, Sinnema M, Accogli A, Salpietro V, Capra V, Ghaloul-Gonzalez L, Brueckner M, Simon MEH, Sweetser DA, Glinton KE, Kirk SE; Baylor College of Medicine Center for Precision Medicine Models; Wangler MF, Yamamoto S, Chung WK, Bellen HJ. Pan X, et al. Am J Hum Genet. 2024 Apr 4;111(4):742-760. doi: 10.1016/j.ajhg.2024.02.007. Epub 2024 Mar 12. Am J Hum Genet. 2024. PMID: 38479391 Free PMC article.
Autolysosomal exocytosis of lipids protect neurons from ferroptosis.
Ralhan I, Chang J, Moulton MJ, Goodman LD, Lee NYJ, Plummer G, Pasolli HA, Matthies D, Bellen HJ, Ioannou MS. Ralhan I, et al. J Cell Biol. 2023 Jun 5;222(6):e202207130. doi: 10.1083/jcb.202207130. Epub 2023 Apr 10. J Cell Biol. 2023. PMID: 37036445 Free PMC article.
29 results