Padula, Agnese
Padula, Agnese
A missense mutation in the ARX gene in a family with X-linked non-syndromic mental retardation: Genotype-phenotype correlation incl. functional assays
2018 Frost, S; Padula, A; Pedersen, I S; Le, V Q; Ernst, A; Nielsen, I K; Miano, M G; Petersen, M B
A regulatory path associated with X-Linked Intellectual Disability and Epilepsy links the histone demethylase KDM5C to the Polyalanine expansions in the transcription factor ARX
2013 Poeta L; Fusco F; Shoubridge C; Manganelli G; Filosa S; Padula A; Courtney M; Collombat P; Lioi MB; Gecz J; Ursini MV;Miano MG
Analysis of KDM5C transcription: identification of new disease routes damaged in XLID/Epilepsy diseases
2015 Padula, A; Poeta, L; Ranieri, A; Helin, K; Filosa, S; Schwartz, C; Altucci, L; Vanbokhoven, H; Miano, Mg
Evidences for an evolutionary conserved druggable pathway damaged in models for ARX polyalanine expansions linked to Refractory Epilepsy and Intellectual Disability.
2018 Padula, A; Poeta, L; Attianese, B; Valentino, M; Verrillo, L; Mallardo, M; Filosa, S; Vanbokhoven, H; Altucci, L; Di Schiavi, E; Miano, Mg
Evolutionary conserved ARX-regulatory pathway in mammals and nematode to find a convergent druggable pathway damaged in neurodevelopmental disorders
2017 Poeta, L; Padula, A; Attianese, B; Valentino, M; Filosa, S; Vanbokhoven, Hans; Altucci, L; Di Schiavi, E; Miano, Mg
Exploring the SINEUP properties as RNA therapeutic tools in ARX polyalanine models for West syndrome.
2018 Poeta L; Padula A; Tuccillo M; Filosa S; Cervicato G; Shoubridge C; Zucchelli S; Gecz J; Gustincich S; Miano MG
Exploring transcriptional single-cell signatures in a mouse model of epilepsy caused by a polyalanine expansion mutation in Aristaless-related homeobox gene.
2018 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
Finding new connections in the transcriptional regulation of Lysine-specific demethylase 5C (KDM5C) a disease gene involved in syndromic and non-syndromic XLID.
2015 Padula A; Poeta L; Shoubridge C; Ranieri A; Helin K; Gecz J; Schwartz C; Ursini MV; vanBokhoven H; Miano MG
Histone methylation-demethylation defects in forms of Intellectual Disability and Refractory Epilepsy
2016 Padula, A; Poeta, L; Ranieri, A; Attianese, B; Valentino, M; Shoubridge, C; Helin, K; Gecz, J; Di Schiavi, E; Filosa, S; Schwartz, C; Altucci, L; Vanbokhoven, H; Miano, Mg
Increased dosage of the bifunctional transcription factor ARX disturbs its tuneable activity and may cause neuronal defects
2018 Padula, A; Chiariello, A; Drongitis, D; Malacarne, M; Piccione, M; Coviello, D; Nicodemi, M; Poeta, L; Miano, Mg
Increased dosage of the brain-disease gene ARX affects transcriptional activity and chromatin remodelling and may clear up Intellectual Disability (ID) found in a male patient with a Xp21.3 duplication
2016 Malacarne M; Padula A; Baldo C; Piccione M; Meli F; Poeta L; Coviello D; Miano MG
Neurodevelopmental disorders linked to Aristaless homeobox gene: A "fault disease model"
2018 Padula, A.; Poeta, L.; Shoubridge, C.; Valentino, M.; Attianese, B.; vanBokhoven, H.; Filosa, S.; Gecz, J.; Altucci, L.; Miano, M.
Strategies to correct the epigenetic path KDM5C-H3K4me3 damaged in XLID/Epilepsy diseases
2015 Poeta, L; Zucchelli, S; Padula, A; Ranieri, A; Filosa, S; Collombat, P; Lioi, Mb; Altucci, L; Gustincich, S; Miano, Mg
The histone demethylase KDM5C gene is a direct target of the ARX homeobox transcription factor.
2012 Poeta, Loredana; Fusco, Francesca; Drongitis, Denise; Shoubridge, Cheryl; Manganelli, Genesia; Filosa, Stefania; Padula, Agnese; Courtney, Monica; Collombat, Patrick; Brigida Lioi, Maria; Gecz, Jozef; Valeria Ursini, Matilde; Miano, MARIA GIUSEPPINA
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A missense mutation in the ARX gene in a family with X-linked non-syndromic mental retardation: Genotype-phenotype correlation incl. functional assays | 1-gen-2018 | Frost, S; Padula, A; Pedersen, I S; Le, V Q; Ernst, A; Nielsen, I K; Miano, M G; Petersen, M B | |
| A regulatory path associated with X-Linked Intellectual Disability and Epilepsy links the histone demethylase KDM5C to the Polyalanine expansions in the transcription factor ARX | 1-gen-2013 | Poeta L; Fusco F; Shoubridge C; Manganelli G; Filosa S; Padula A; Courtney M; Collombat P; Lioi MB; Gecz J; Ursini MV;Miano MG | |
| Analysis of KDM5C transcription: identification of new disease routes damaged in XLID/Epilepsy diseases | 1-gen-2015 | Padula, A; Poeta, L; Ranieri, A; Helin, K; Filosa, S; Schwartz, C; Altucci, L; Vanbokhoven, H; Miano, Mg | |
| Evidences for an evolutionary conserved druggable pathway damaged in models for ARX polyalanine expansions linked to Refractory Epilepsy and Intellectual Disability. | 1-gen-2018 | Padula, A; Poeta, L; Attianese, B; Valentino, M; Verrillo, L; Mallardo, M; Filosa, S; Vanbokhoven, H; Altucci, L; Di Schiavi, E; Miano, Mg | |
| Evolutionary conserved ARX-regulatory pathway in mammals and nematode to find a convergent druggable pathway damaged in neurodevelopmental disorders | 1-gen-2017 | Poeta, L; Padula, A; Attianese, B; Valentino, M; Filosa, S; Vanbokhoven, Hans; Altucci, L; Di Schiavi, E; Miano, Mg | |
| Exploring the SINEUP properties as RNA therapeutic tools in ARX polyalanine models for West syndrome. | 1-gen-2018 | Poeta L; Padula A; Tuccillo M; Filosa S; Cervicato G; Shoubridge C; Zucchelli S; Gecz J; Gustincich S; Miano MG | |
| Exploring transcriptional single-cell signatures in a mouse model of epilepsy caused by a polyalanine expansion mutation in Aristaless-related homeobox gene. | 1-gen-2018 | 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 | |
| Finding new connections in the transcriptional regulation of Lysine-specific demethylase 5C (KDM5C) a disease gene involved in syndromic and non-syndromic XLID. | 1-gen-2015 | Padula A; Poeta L; Shoubridge C; Ranieri A; Helin K; Gecz J; Schwartz C; Ursini MV; vanBokhoven H; Miano MG | |
| Histone methylation-demethylation defects in forms of Intellectual Disability and Refractory Epilepsy | 1-gen-2016 | Padula, A; Poeta, L; Ranieri, A; Attianese, B; Valentino, M; Shoubridge, C; Helin, K; Gecz, J; Di Schiavi, E; Filosa, S; Schwartz, C; Altucci, L; Vanbokhoven, H; Miano, Mg | |
| Increased dosage of the bifunctional transcription factor ARX disturbs its tuneable activity and may cause neuronal defects | 1-gen-2018 | Padula, A; Chiariello, A; Drongitis, D; Malacarne, M; Piccione, M; Coviello, D; Nicodemi, M; Poeta, L; Miano, Mg | |
| Increased dosage of the brain-disease gene ARX affects transcriptional activity and chromatin remodelling and may clear up Intellectual Disability (ID) found in a male patient with a Xp21.3 duplication | 1-gen-2016 | Malacarne M; Padula A; Baldo C; Piccione M; Meli F; Poeta L; Coviello D; Miano MG | |
| Neurodevelopmental disorders linked to Aristaless homeobox gene: A "fault disease model" | 1-gen-2018 | Padula, A.; Poeta, L.; Shoubridge, C.; Valentino, M.; Attianese, B.; vanBokhoven, H.; Filosa, S.; Gecz, J.; Altucci, L.; Miano, M. | |
| Strategies to correct the epigenetic path KDM5C-H3K4me3 damaged in XLID/Epilepsy diseases | 1-gen-2015 | Poeta, L; Zucchelli, S; Padula, A; Ranieri, A; Filosa, S; Collombat, P; Lioi, Mb; Altucci, L; Gustincich, S; Miano, Mg | |
| The histone demethylase KDM5C gene is a direct target of the ARX homeobox transcription factor. | 1-gen-2012 | Poeta, Loredana; Fusco, Francesca; Drongitis, Denise; Shoubridge, Cheryl; Manganelli, Genesia; Filosa, Stefania; Padula, Agnese; Courtney, Monica; Collombat, Patrick; Brigida Lioi, Maria; Gecz, Jozef; Valeria Ursini, Matilde; Miano, MARIA GIUSEPPINA |