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Page 1
Deregulation of microtubule organization and RNA metabolism in Arx models for lissencephaly and developmental epileptic encephalopathy.
Drongitis D, Caterino M, Verrillo L, Santonicola P, Costanzo M, Poeta L, Attianese B, Barra A, Terrone G, Lioi MB, Paladino S, Di Schiavi E, Costa V, Ruoppolo M, Miano MG. Drongitis D, et al. Among authors: di schiavi e. Hum Mol Genet. 2022 Jun 4;31(11):1884-1908. doi: 10.1093/hmg/ddac028. Hum Mol Genet. 2022. PMID: 35094084 Free PMC article.
Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders.
Poeta L, Padula A, Attianese B, Valentino M, Verrillo L, Filosa S, Shoubridge C, Barra A, Schwartz CE, Christensen J, van Bokhoven H, Helin K, Lioi MB, Collombat P, Gecz J, Altucci L, Di Schiavi E, Miano MG. Poeta L, et al. Among authors: di schiavi e. Hum Mol Genet. 2019 Dec 15;28(24):4089-4102. doi: 10.1093/hmg/ddz254. Hum Mol Genet. 2019. PMID: 31691806 Free PMC article.
Impairment of the neurotrophic signaling hub B-Raf contributes to motoneuron degeneration in spinal muscular atrophy.
Hensel N, Cieri F, Santonicola P, Tapken I, Schüning T, Taiana M, Pagliari E, Joseph A, Fischer S, Heidrich N, Brinkmann H, Kubinski S, Bergmann AK, Richter MF, Jung K, Corti S, Di Schiavi E, Claus P. Hensel N, et al. Among authors: di schiavi e. Proc Natl Acad Sci U S A. 2021 May 4;118(18):e2007785118. doi: 10.1073/pnas.2007785118. Proc Natl Acad Sci U S A. 2021. PMID: 33931501 Free PMC article.
Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia.
Di Rocco M, Galosi S, Lanza E, Tosato F, Caprini D, Folli V, Friedman J, Bocchinfuso G, Martire A, Di Schiavi E, Leuzzi V, Martinelli S. Di Rocco M, et al. Among authors: di schiavi e. Hum Mol Genet. 2022 Mar 21;31(6):929-941. doi: 10.1093/hmg/ddab296. Hum Mol Genet. 2022. PMID: 34622282 Free PMC article.
A new Caenorhabditis elegans model to study copper toxicity in Wilson disease.
Catalano F, O'Brien TJ, Mekhova AA, Sepe LV, Elia M, De Cegli R, Gallotta I, Santonicola P, Zampi G, Ilyechova EY, Romanov AA, Samuseva PD, Salzano J, Petruzzelli R, Polishchuk EV, Indrieri A, Kim BE, Brown AEX, Puchkova LV, Di Schiavi E, Polishchuk RS. Catalano F, et al. Among authors: di schiavi e. Traffic. 2024 Jan;25(1):e12920. doi: 10.1111/tra.12920. Epub 2023 Oct 27. Traffic. 2024. PMID: 37886910 Free PMC article.
Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis.
Flex E, Jaiswal M, Pantaleoni F, Martinelli S, Strullu M, Fansa EK, Caye A, De Luca A, Lepri F, Dvorsky R, Pannone L, Paolacci S, Zhang SC, Fodale V, Bocchinfuso G, Rossi C, Burkitt-Wright EM, Farrotti A, Stellacci E, Cecchetti S, Ferese R, Bottero L, Castro S, Fenneteau O, Brethon B, Sanchez M, Roberts AE, Yntema HG, Van Der Burgt I, Cianci P, Bondeson ML, Cristina Digilio M, Zampino G, Kerr B, Aoki Y, Loh ML, Palleschi A, Di Schiavi E, Carè A, Selicorni A, Dallapiccola B, Cirstea IC, Stella L, Zenker M, Gelb BD, Cavé H, Ahmadian MR, Tartaglia M. Flex E, et al. Among authors: di schiavi e. Hum Mol Genet. 2014 Aug 15;23(16):4315-27. doi: 10.1093/hmg/ddu148. Epub 2014 Apr 4. Hum Mol Genet. 2014. PMID: 24705357 Free PMC article.
50 results