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Phytocannabinoid treatment in a mouse model of West syndrome with spontaneous seizures

Autor: Verrillo L, Drongitis D, Bingham S, Barra A, Terrone G, Del Giudice E, Iannotti F, Poeta L, Di Marzo V, Miano MG.

Publikováno v: 19th International Workshop on Fragile X and other Neurodevelopmental Disorders, Sorrento (Italy), 18-21 September 2019
info:cnr-pdr/source/autori:Verrillo L, Drongitis D, Bingham S, Barra A, Terrone G, Del Giudice E, Iannotti F, Poeta L, Di Marzo V, Miano MG./congresso_nome:19th International Workshop on Fragile X and other Neurodevelopmental Disorders/congresso_luogo:Sorrento (Italy)/congresso_data:18-21 September 2019/anno:2019/pagina_da:/pagina_a:/intervallo_pagine

The phytocannabinoid (pCB), cannabidiol, is approved in the US for treatment of Lennox-Gasteaut syndrome and Dravet, syndrome, both of which are neurodevelopmental disorders with intractable epilepsy. West syndrome is an epileptic encephalopathy char

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::be69379c36b4c734cc1c224afa7c0665
http://www.cnr.it/prodotto/i/434886

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Application of synthethic long non-coding RNAs to increase synthesis of Lysine (K)-specific demethylase 5C (KDM5C) in primary mouse neurons

Autor: Poeta L, Tuccillo M, Franco C, Canzoniero L, Zucchelli S, Gustincich S, Miano MG

Publikováno v: 19th International Workshop on Fragile X and other Neurodevelopmental Disorders, Sorrento, Naples, Italy, 18-21 September 2019
info:cnr-pdr/source/autori:Poeta L, Tuccillo M, Franco C, Canzoniero L, Zucchelli S, Gustincich S, Miano MG/congresso_nome:19th International Workshop on Fragile X and other Neurodevelopmental Disorders/congresso_luogo:Sorrento, Naples, Italy/congresso_data:18-21 September 2019/anno:2019/pagina_da:/pagina_a:/intervallo_pagine

Impaired chromatin regulation has a critical role in the pathophysiology of several forms of Intellectual Disability (ID) with epilepsy in infancy and childhood. Lysine (K)-specific demethylase 5C (KDM5C) is an epigenetic regulator that removes di- a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::9eb36f6b78dac416becfed5866c51f28
http://www.cnr.it/prodotto/i/434881

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Analysis of transcriptome landscapes in the epileptogenic cortex of the Arx(GCG)7/Y mouse

Autor: Tuccillo M, Verrillo L, Drongitis D, Mangano E, Consolandi C, Franco C, Mallardo M, Cankaya I, M. T. Canzoniero, Poeta L, Bordoni R, Miano MG.

Publikováno v: 19th International Workshop on Fragile X and other Neurodevelopmental Disorders, Sorrento, Naples, Italy, 18-21 September 2019
info:cnr-pdr/source/autori:Tuccillo M, Verrillo L, Drongitis D, Mangano E, Consolandi C, Franco C, Mallardo M, Cankaya I, M. T. Canzoniero, Poeta L, Bordoni R, Miano MG./congresso_nome:19th International Workshop on Fragile X and other Neurodevelopmental Disorders/congresso_luogo:Sorrento, Naples, Italy/congresso_data:18-21 September 2019/anno:2019/pagina_da:/pagina_a:/intervallo_pagine

The X-linked Aristaless-related homeobox gene (ARX) encodes an interneuron-specific transcription factor (TF) with a key role in mammalian corticogenesis and GABAergic sub-type specification. Elongations in two of its four polyalanine (PolyA) tracts

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::8253854903dfd9ae99a608da5f6550d5
http://www.cnr.it/prodotto/i/434884

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Dissecting the Aristaless-related Homeobox Epilepsy path to find druggable target molecules

Autor: Poeta L, Verrillo L, Drongitis D, Tuccillo M, Filosa S, Zucchelli S, Collombat P, Gecz J, Gustincich S, Di Schiavi E, Altucci L, Miano MG

Publikováno v: Convention Scientifica Telethon, Riva del Garda, 28-30 Ottobre 2019
info:cnr-pdr/source/autori:Poeta L, Verrillo L, Drongitis D, Tuccillo M, Filosa S, Zucchelli S, Collombat P, Gecz J, Gustincich S, Di Schiavi E, Altucci L, Miano MG/congresso_nome:Convention Scientifica Telethon/congresso_luogo:Riva del Garda/congresso_data:28-30 Ottobre 2019/anno:2019/pagina_da:/pagina_a:/intervallo_pagine

Aristaless-related homeobox (ARX) is a crucial transcription factor involved in several interneuronopathies, including infantile spasms (ISSX1) and West Syndrome. Its polyAlanine motifs are hot spots for elongations, frequently found in kids affected

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::3fef32f697c1f2641c380ea930d7b36d
https://publications.cnr.it/doc/434889

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Analysis of cortical gene expression variability in a mouse model of X-linked Infantile spsms syndrome

Autor: Verrillo L, Tuccillo M, Drongitis D, Mangano E, Franco C, Terrone G, Canzoniero MT, Del Giudice E, Bordoni R, Poeta L, Miano MG.

Publikováno v: Translational medicine @ UniSa (2019).
info:cnr-pdr/source/autori:Verrillo L, Tuccillo M, Drongitis D, Mangano E, Franco C, Terrone G, Canzoniero MT, Del Giudice E, Bordoni R, Poeta L, Miano MG./titolo:Analysis of cortical gene expression variability in a mouse model of X-linked Infantile spsms syndrome/doi:/rivista:Translational medicine @ UniSa/anno:2019/pagina_da:/pagina_a:/intervallo_pagine:/volume

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::15173618adb9d143fa9ff1b1f20c0930
http://www.cnr.it/prodotto/i/434840

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Increased dosage of the bifunctional transcription factor ARX disturbs its tuneable activity and may cause neuronal defects

Autor: Padula A, Chiariello A, Drongitis D, Malacarne M, Piccione M, Coviello D, Nicodemi M, Poeta L, Miano MG.

Publikováno v: VIII Neapolitan Brain Group, Napoli, Italy, 13/12/2018
info:cnr-pdr/source/autori:Padula A, Chiariello A, Drongitis D, Malacarne M, Piccione M, Coviello D, Nicodemi M, Poeta L, Miano MG./congresso_nome:VIII Neapolitan Brain Group/congresso_luogo:Napoli, Italy/congresso_data:13%2F12%2F2018/anno:2018/pagina_da:/pagina_a:/intervallo_pagine

Defective activity of dosage-sensitive transcription factors (TFs) has been established to change gene expression and cause a phenotypic effect during brain development. ARX is a bifunctional transcription factor capable of activating or repressing g

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::4b8a37d8ccdcb7aa9850e8d12cf9521d
http://www.cnr.it/prodotto/i/434896

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Exploring transcriptional single-cell signatures in a mouse model of epilepsy caused by a polyalanine expansion mutation in Aristaless-related homeobox gene

Autor: Tuccillo M, Mangano E, Verrillo L, Poeta L, Consolandi C, Padula A, Franco C, Drongitis D, Mallardo M, Cervicato G, Canzoniero L M T, Bordoni R, Miano MG.

Publikováno v: EMBO Workshop-From epigenome towards epitranscriptome in cell fate choice, Capri, Nplaes, Italy, 14-17 October 2018
info:cnr-pdr/source/autori:Tuccillo M, Mangano E, Verrillo L, Poeta L, Consolandi C, Padula A, Franco C, Drongitis D, Mallardo M, Cervicato G, Canzoniero L M T, Bordoni R, Miano MG./congresso_nome:EMBO Workshop-From epigenome towards epitranscriptome in cell fate choice/congresso_luogo:Capri, Nplaes, Italy/congresso_data:14-17 October 2018/anno:2018/pagina_da:/pagina_a:/intervallo_pagine

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::c08c714cc21955e487e3dbf4bb7a21cf
http://www.cnr.it/prodotto/i/434897

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Exploring the SINEUP properties as RNA therapeutic tools in ARX polyalanine models for West syndrome

Autor: Poeta L, Padula A, Tuccillo M, Filosa S, Cervicato G, Shoubridge C, Zucchelli S, Gecz J, Gustincich S, Miano MG

Publikováno v: 9th International Workshop on Unstable microsatellite in human diseases (UMHD9), Capri, Naples, Italy, 21-26 April, 2018
info:cnr-pdr/source/autori:Poeta L, Padula A, Tuccillo M, Filosa S, Cervicato G, Shoubridge C, Zucchelli S, Gecz J, Gustincich S, Miano MG/congresso_nome:9th International Workshop on Unstable microsatellite in human diseases (UMHD9)/congresso_luogo:Capri, Naples, Italy/congresso_data:21-26 April, 2018/anno:2018/pagina_da:/pagina_a:/intervallo_pagine

ARX (Aristaless-related homeobox gene), is a crucial gene for development of interneuron in the fetal brain, implicated in intellectual disability associated with a severe form of Epilepsy. It is caracterized by a trinucleotide (GCN) repeats with hig

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::295ce4c8893ea81c8c52adbc7aa48197
http://www.cnr.it/prodotto/i/434906

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Evidences for an evolutionary conserved druggable pathway damaged in models for ARX polyalanine expansions linked to Refractory Epilepsy and Intellectual Disability

Autor: Padula A, Poeta L, Attianese B, Valentino M, Verrillo L, Mallardo M, Filosa S, vanBokhoven H, Altucci L, Di Schiavi E, Miano MG

Publikováno v: 9th International Workshop on Unstable microsatellite in human diseases (UMHD9), Capri, Naples, Italy, 21-26 April, 2018
info:cnr-pdr/source/autori:Padula A, Poeta L, Attianese B, Valentino M, Verrillo L, Mallardo M, Filosa S, vanBokhoven H, Altucci L, Di Schiavi E, Miano MG/congresso_nome:9th International Workshop on Unstable microsatellite in human diseases (UMHD9)/congresso_luogo:Capri, Naples, Italy/congresso_data:21-26 April, 2018/anno:2018/pagina_da:/pagina_a:/intervallo_pagine

The X-linked ARX gene encodes the Aristaless-related homeobox protein, ARX, an interneuron-specific transcription factor (TF) with a key role in GABAergic interneuron migration and maturation. Expansions of the first two polyalanine tracts (PA1 and P

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::d89bdcf375a48eaa403a72eef646a7de
https://publications.cnr.it/doc/434901

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Evolutionary conserved ARX-regulatory pathway in mammals and nematode to find a convergent druggable pathway damaged in neurodevelopmental disorders

Autor: Poeta L, Padula A, Attianese B, Valentino M, Filosa S, vanBokhoven Hans, Altucci L, Di Schiavi E, Miano MG.

Publikováno v: 67th American Society of Human Genetics (ASHG), Orlando, Florida, USA, October 17-21, 2017
info:cnr-pdr/source/autori:Poeta L, Padula A, Attianese B, Valentino M, Filosa S, vanBokhoven Hans, Altucci L, Di Schiavi E, Miano MG./congresso_nome:67th American Society of Human Genetics (ASHG)/congresso_luogo:Orlando, Florida, USA/congresso_data:October 17-21, 2017/anno:2017/pagina_da:/pagina_a:/intervallo_pagine

The X-linked ARX gene encodes the Aristaless-related homeobox protein, which belongs to a subset of morphogenetic transcription factors with a crucial role in cerebral development and patterning. Mutations in ARX cause a wide spectrum of X-linked neu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::cce6e2ee37cc805e9795f54043588115
http://www.cnr.it/prodotto/i/434909

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