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Loss of the batten disease protein CLN3 leads to mis-trafficking of M6PR and defective autophagic-lysosomal reformation.
Calcagni' A, Staiano L, Zampelli N, Minopoli N, Herz NJ, Di Tullio G, Huynh T, Monfregola J, Esposito A, Cirillo C, Bajic A, Zahabiyon M, Curnock R, Polishchuk E, Parkitny L, Medina DL, Pastore N, Cullen PJ, Parenti G, De Matteis MA, Grumati P, Ballabio A. Calcagni' A, et al. Among authors: bajic a. Nat Commun. 2023 Jul 3;14(1):3911. doi: 10.1038/s41467-023-39643-7. Nat Commun. 2023. PMID: 37400440 Free PMC article.
The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing.
Li S, Zhao S, Sinson JC, Bajic A, Rosenfeld JA, Neeley MB, Pena M, Worley KC, Burrage LC, Weisz-Hubshman M, Ketkar S, Craigen WJ, Clark GD, Lalani S, Bacino CA, Machol K, Chao HT, Potocki L, Emrick L, Sheppard J, Nguyen MTT, Khoramnia A, Hernandez PP, Nagamani SC, Liu Z; Undiagnosed Diseases Network; Eng CM, Lee B, Liu P. Li S, et al. Among authors: bajic a. Am J Hum Genet. 2024 May 2;111(5):841-862. doi: 10.1016/j.ajhg.2024.03.007. Epub 2024 Apr 8. Am J Hum Genet. 2024. PMID: 38593811
A novel pathogenic mutation of MeCP2 impairs chromatin association independent of protein levels.
Zhou J, Cattoglio C, Shao Y, Tirumala HP, Vetralla C, Bajikar SS, Li Y, Chen H, Wang Q, Wu Z, Tang B, Zahabiyon M, Bajic A, Meng X, Ferrie JJ, LaGrone A, Zhang P, Kim JJ, Tang J, Liu Z, Darzacq X, Heintz N, Tjian R, Zoghbi HY. Zhou J, et al. Among authors: bajic a. Genes Dev. 2023 Oct 1;37(19-20):883-900. doi: 10.1101/gad.350733.123. Epub 2023 Oct 27. Genes Dev. 2023. PMID: 37890975 Free PMC article.
K27M in canonical and noncanonical H3 variants occurs in distinct oligodendroglial cell lineages in brain midline gliomas.
Jessa S, Mohammadnia A, Harutyunyan AS, Hulswit M, Varadharajan S, Lakkis H, Kabir N, Bashardanesh Z, Hébert S, Faury D, Vladoiu MC, Worme S, Coutelier M, Krug B, Faria Andrade A, Pathania M, Bajic A, Weil AG, Ellezam B, Atkinson J, Dudley RWR, Farmer JP, Perreault S, Garcia BA, Larouche V, Blanchette M, Garzia L, Bhaduri A, Ligon KL, Bandopadhayay P, Taylor MD, Mack SC, Jabado N, Kleinman CL. Jessa S, et al. Among authors: bajic a. Nat Genet. 2022 Dec;54(12):1865-1880. doi: 10.1038/s41588-022-01205-w. Epub 2022 Dec 5. Nat Genet. 2022. PMID: 36471070 Free PMC article.
Oleic acid is an endogenous ligand of TLX/NR2E1 that triggers hippocampal neurogenesis.
Kandel P, Semerci F, Mishra R, Choi W, Bajic A, Baluya D, Ma L, Chen K, Cao AC, Phongmekhin T, Matinyan N, Jiménez-Panizo A, Chamakuri S, Raji IO, Chang L, Fuentes-Prior P, MacKenzie KR, Benn CL, Estébanez-Perpiñá E, Venken K, Moore DD, Young DW, Maletic-Savatic M. Kandel P, et al. Among authors: bajic a. Proc Natl Acad Sci U S A. 2022 Mar 29;119(13):e2023784119. doi: 10.1073/pnas.2023784119. Epub 2022 Mar 25. Proc Natl Acad Sci U S A. 2022. PMID: 35333654 Free PMC article.
47 results