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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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Neurodevelopmental disorders linked to Aristaless homeobox gene: A 'fault disease model'

Autor: Padula, A., Poeta, L., Shoubridge, C., Valentino, M., Attianese, B., Vanbokhoven, H., Filosa, S., Gecz, J., Altucci, L., Miano, M.

Publikováno v: European journal of human genetics 26 (2018): 350–351.
info:cnr-pdr/source/autori:Padula, A.; Poeta, L.; Shoubridge, C.; Valentino, M.; Attianese, B.; vanBokhoven, H.; Filosa, S.; Gecz, J.; Altucci, L.; Miano, M./titolo:Neurodevelopmental disorders linked to Aristaless homeobox gene: A "fault disease model"/doi:/rivista:European journal of human genetics/anno:2018/pagina_da:350/pagina_a:351/intervallo_pagine:350–351/volume:26
Web of Science

Studying molecular convergence in neurodevelopmental disorders caused by mutations in specific disease-related genes permits us to define druggable molecular pathways. The purpose of our study is to assess the degree of damage associated with the ARX

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::e554ae2801a141fc49e5dcdec2d21d01
http://www.cnr.it/prodotto/i/434892

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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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