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LETM1 couples mitochondrial DNA metabolism and nutrient preference.
Durigon R, Mitchell AL, Jones AW, Manole A, Mennuni M, Hirst EM, Houlden H, Maragni G, Lattante S, Doronzio PN, Dalla Rosa I, Zollino M, Holt IJ, Spinazzola A. Durigon R, et al. Among authors: doronzio pn. EMBO Mol Med. 2018 Sep;10(9):e8550. doi: 10.15252/emmm.201708550. EMBO Mol Med. 2018. PMID: 30012579 Free PMC article.
Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples.
Zollino M, Lattante S, Orteschi D, Frangella S, Doronzio PN, Contaldo I, Mercuri E, Marangi G. Zollino M, et al. Among authors: doronzio pn. Front Neurosci. 2017 Oct 18;11:587. doi: 10.3389/fnins.2017.00587. eCollection 2017. Front Neurosci. 2017. PMID: 29093661 Free PMC article. Review.
A novel truncating variant within exon 7 of KAT6B associated with features of both Say-Barber-Bieseker-Young-Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders.
Marangi G, Di Giacomo MC, Lattante S, Orteschi D, Patrizi S, Doronzio PN, Riviello FN, Vaisfeld A, Frangella S, Zollino M. Marangi G, et al. Among authors: doronzio pn. Am J Med Genet A. 2018 Feb;176(2):455-459. doi: 10.1002/ajmg.a.38571. Epub 2017 Dec 11. Am J Med Genet A. 2018. PMID: 29226580
Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis.
Sabatelli M, Moncada A, Conte A, Lattante S, Marangi G, Luigetti M, Lucchini M, Mirabella M, Romano A, Del Grande A, Bisogni G, Doronzio PN, Rossini PM, Zollino M. Sabatelli M, et al. Among authors: doronzio pn. Hum Mol Genet. 2013 Dec 1;22(23):4748-55. doi: 10.1093/hmg/ddt328. Epub 2013 Jul 11. Hum Mol Genet. 2013. PMID: 23847048
Matrin 3 variants are frequent in Italian ALS patients.
Marangi G, Lattante S, Doronzio PN, Conte A, Tasca G, Monforte M, Patanella AK, Bisogni G, Meleo E, La Spada S, Zollino M, Sabatelli M. Marangi G, et al. Among authors: doronzio pn. Neurobiol Aging. 2017 Jan;49:218.e1-218.e7. doi: 10.1016/j.neurobiolaging.2016.09.023. Epub 2016 Oct 6. Neurobiol Aging. 2017. PMID: 28029397
Generation of an induced pluripotent stem cell line (UCSCi002-A) from a patient with a variant in TARDBP gene associated with familial amyotrophic lateral sclerosis and frontotemporal dementia.
Martello F, Lattante S, Doronzio PN, Conte A, Bisogni G, Orteschi D, Luigetti M, Marrucci MA, Zollino M, Sabatelli M, Marangi G. Martello F, et al. Among authors: doronzio pn. Stem Cell Res. 2022 Jul;62:102825. doi: 10.1016/j.scr.2022.102825. Epub 2022 Jun 1. Stem Cell Res. 2022. PMID: 35667216 Free article.
15 results