Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Benedetta Attianese"'
Autor:
Denise Drongitis, Marianna Caterino, Lucia Verrillo, Pamela Santonicola, Michele Costanzo, Loredana Poeta, Benedetta Attianese, Adriano Barra, Gaetano Terrone, Maria Brigida Lioi, Simona Paladino, Elia Di Schiavi, Valerio Costa, Margherita Ruoppolo, Maria Giuseppina Miano
X-linked lissencephaly with abnormal genitalia (XLAG) and developmental epileptic encephalopathy-1 (DEE1) are caused by mutations in the Aristaless-related homeobox (ARX) gene, which encodes a transcription factor responsible for brain development. I
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db6c94e21eb591c107203f627e519408
https://hdl.handle.net/11588/871000
https://hdl.handle.net/11588/871000
Autor:
Stefania Filosa, Jesper Christensen, Cheryl Shoubridge, Maria Giuseppina Miano, Agnese Padula, Lucia Altucci, Kristian Helin, Elia Di Schiavi, Lucia Verrillo, Loredana Poeta, Benedetta Attianese, Jozef Gecz, Mariaelena Valentino, Hans van Bokhoven, Maria Brigida Lioi, Patrick Collombat, Charles E. Schwartz, Adriano Barra
Publikováno v:
Human molecular genetics
28 (2019): 4089–4102. doi:10.1093/hmg/ddz254
info:cnr-pdr/source/autori: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./titolo:Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders./doi:10.1093%2Fhmg%2Fddz254/rivista:Human molecular genetics (Print)/anno:2019/pagina_da:4089/pagina_a:4102/intervallo_pagine:4089–4102/volume:28
Hum Mol Genet
28 (2019): 4089–4102. doi:10.1093/hmg/ddz254
info:cnr-pdr/source/autori: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./titolo:Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders./doi:10.1093%2Fhmg%2Fddz254/rivista:Human molecular genetics (Print)/anno:2019/pagina_da:4089/pagina_a:4102/intervallo_pagine:4089–4102/volume:28
Hum Mol Genet
A disproportional large number of neurodevelopmental disorders (NDDs) is caused by variants in genes encoding transcription factors and chromatin modifiers. However, the functional interactions between the corresponding proteins are only partly known
Publikováno v:
Development.
Post-translational histone modifications regulate chromatin compaction and gene expression to control many aspects of development. Mutations in genes encoding regulators of H3K4 methylation are causally associated with neurodevelopmental disorders ch