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De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects.
Slavotinek A, Risolino M, Losa M, Cho MT, Monaghan KG, Schneidman-Duhovny D, Parisotto S, Herkert JC, Stegmann APA, Miller K, Shur N, Chui J, Muller E, DeBrosse S, Szot JO, Chapman G, Pachter NS, Winlaw DS, Mendelsohn BA, Dalton J, Sarafoglou K, Karachunski PI, Lewis JM, Pedro H, Dunwoodie SL, Selleri L, Shieh J. Slavotinek A, et al. Among authors: losa m. Hum Mol Genet. 2017 Dec 15;26(24):4849-4860. doi: 10.1093/hmg/ddx363. Hum Mol Genet. 2017. PMID: 29036646 Free PMC article.
A spatio-temporally constrained gene regulatory network directed by PBX1/2 acquires limb patterning specificity via HAND2.
Losa M, Barozzi I, Osterwalder M, Hermosilla-Aguayo V, Morabito A, Chacón BH, Zarrineh P, Girdziusaite A, Benazet JD, Zhu J, Mackem S, Capellini TD, Dickel D, Bobola N, Zuniga A, Visel A, Zeller R, Selleri L. Losa M, et al. Nat Commun. 2023 Jul 6;14(1):3993. doi: 10.1038/s41467-023-39443-z. Nat Commun. 2023. PMID: 37414772 Free PMC article.
Limbic Network Derangement Mediates Unawareness of Apathy in Mild Cognitive Impairment due to Alzheimer's Disease: Clues from [18F]FDG PET Voxel-Wise Analysis.
Kreshpa W, Raffa S, Girtler N, Brugnolo A, Mattioli P, Orso B, Calizzano F, Arnaldi D, Peira E, Chincarini A, Tagliafico L, Monacelli F, Calcagno P, Serafini G, Gotta F, Mandich P, Pretta S, Del Sette M, Sofia L, Sambuceti G, Morbelli S, Schenone A, Massa F, Pardini M; Dementia Disease Management Team of the IRCCS Ospedale Policlinico San Martino, Genoa. Kreshpa W, et al. J Alzheimers Dis. 2024;101(2):475-485. doi: 10.3233/JAD-240430. J Alzheimers Dis. 2024. PMID: 39240639
The ASC inflammasome adapter governs SAA-derived protein aggregation in inflammatory amyloidosis.
Losa M, Emmenegger M, De Rossi P, Schürch PM, Serdiuk T, Pengo N, Capron D, Bieli D, Bargenda N, Rupp NJ, Carta MC, Frontzek KJ, Lysenko V, Reimann RR, Schwarz P, Nuvolone M, Westermark GT, Nilsson KPR, Polymenidou M, Theocharides AP, Hornemann S, Picotti P, Aguzzi A. Losa M, et al. EMBO Mol Med. 2024 Sep;16(9):2024-2042. doi: 10.1038/s44321-024-00107-0. Epub 2024 Jul 30. EMBO Mol Med. 2024. PMID: 39080493 Free PMC article.
333 results