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Page 1
Flvcr1a deficiency promotes heme-based energy metabolism dysfunction in skeletal muscle.
Mistretta M, Fiorito V, Allocco AL, Ammirata G, Hsu MY, Digiovanni S, Belicchi M, Napoli L, Ripolone M, Trombetta E, Mauri P, Farini A, Meregalli M, Villa C, Porporato PE, Miniscalco B, Crich SG, Riganti C, Torrente Y, Tolosano E. Mistretta M, et al. Among authors: allocco al. Cell Rep. 2024 Mar 26;43(3):113854. doi: 10.1016/j.celrep.2024.113854. Epub 2024 Feb 26. Cell Rep. 2024. PMID: 38412099 Free article.
A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus.
Singh AK, Allington G, Viviano S, McGee S, Kiziltug E, Ma S, Zhao S, Mekbib KY, Shohfi JP, Duy PQ, DeSpenza T Jr, Furey CG, Reeves BC, Smith H, Sousa AMM, Cherskov A, Allocco A, Nelson-Williams C, Haider S, Rizvi SRA, Alper SL, Sestan N, Shimelis H, Walsh LK, Lifton RP, Moreno-De-Luca A, Jin SC, Kruszka P, Deniz E, Kahle KT. Singh AK, et al. Among authors: allocco a. Brain. 2024 Apr 4;147(4):1553-1570. doi: 10.1093/brain/awad405. Brain. 2024. PMID: 38128548
A novel SMARCC1 -mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus.
Singh AK, Viviano S, Allington G, McGee S, Kiziltug E, Mekbib KY, Shohfi JP, Duy PQ, DeSpenza T, Furey CG, Reeves BC, Smith H, Ma S, Sousa AMM, Cherskov A, Allocco A, Nelson-Williams C, Haider S, Rizvi SRA, Alper SL, Sestan N, Shimelis H, Walsh LK, Lifton RP, Moreno-De-Luca A, Jin SC, Kruszka P, Deniz E, Kahle KT. Singh AK, et al. Among authors: allocco a. medRxiv [Preprint]. 2023 Mar 20:2023.03.19.23287455. doi: 10.1101/2023.03.19.23287455. medRxiv. 2023. PMID: 36993720 Free PMC article. Updated. Preprint.
Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts.
Kundishora AJ, Allington G, McGee S, Mekbib KY, Gainullin V, Timberlake AT, Nelson-Williams C, Kiziltug E, Smith H, Ocken J, Shohfi J, Allocco A, Duy PQ, Elsamadicy AA, Dong W, Zhao S, Wang YC, Qureshi HM, DiLuna ML, Mane S, Tikhonova IR, Fu PY, Castaldi C, López-Giráldez F, Knight JR, Furey CG, Carter BS, Haider S, Moreno-De-Luca A, Alper SL, Gunel M, Millan F, Lifton RP, Torene RI, Jin SC, Kahle KT. Kundishora AJ, et al. Among authors: allocco a. Nat Med. 2023 Mar;29(3):667-678. doi: 10.1038/s41591-023-02238-2. Epub 2023 Mar 6. Nat Med. 2023. PMID: 36879130
Endothelial cells require functional FLVCR1a during developmental and adult angiogenesis.
Petrillo S, De Giorgio F, Bertino F, Garello F, Bitonto V, Longo DL, Mercurio S, Ammirata G, Allocco AL, Fiorito V, Chiabrando D, Altruda F, Terreno E, Provero P, Munaron L, Genova T, Nóvoa A, Carlos AR, Cardoso S, Mallo M, Soares MP, Tolosano E. Petrillo S, et al. Among authors: allocco al. Angiogenesis. 2023 Aug;26(3):365-384. doi: 10.1007/s10456-023-09865-w. Epub 2023 Jan 11. Angiogenesis. 2023. PMID: 36631598 Free PMC article.
De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis.
Timberlake AT, Kiziltug E, Jin SC, Nelson-Williams C, Loring E; Yale Center for Genome Analysis; Allocco A, Marlier A, Banka S, Stuart H, Passos-Buenos MR, Rosa R, Rogatto SR, Tonne E, Stiegler AL, Boggon TJ, Alperovich M, Steinbacher D, Staffenberg DA, Flores RL, Persing JA, Kahle KT, Lifton RP. Timberlake AT, et al. Among authors: allocco a. Hum Genet. 2023 Jan;142(1):21-32. doi: 10.1007/s00439-022-02477-2. Epub 2022 Aug 23. Hum Genet. 2023. PMID: 35997807
The heme synthesis-export system regulates the tricarboxylic acid cycle flux and oxidative phosphorylation.
Fiorito V, Allocco AL, Petrillo S, Gazzano E, Torretta S, Marchi S, Destefanis F, Pacelli C, Audrito V, Provero P, Medico E, Chiabrando D, Porporato PE, Cancelliere C, Bardelli A, Trusolino L, Capitanio N, Deaglio S, Altruda F, Pinton P, Cardaci S, Riganti C, Tolosano E. Fiorito V, et al. Among authors: allocco al. Cell Rep. 2021 Jun 15;35(11):109252. doi: 10.1016/j.celrep.2021.109252. Cell Rep. 2021. PMID: 34133926 Free article.
32 results