Sfoglia per Rivista HUMAN MOLECULAR GENETICS
The antidepressant tianeptine reverts synaptic AMPA receptor defects caused by deficiency of CDKL5
2018-01-01 Tramarin, M.; Rusconi, L.; Pizzamiglio, L.; Barbiero, I.; Peroni, D.; Scaramuzza, L.; Guilliams, T.; Cavalla, D.; Antonucci, F.; Kilstrup-Nielsen, C.
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome
2005-01-01 F., Mari; S., Azimonti; I., Bertani; F., Bolognese; E., Colombo; R., Caselli; E., Scala; I., Longo; S., Grosso; C., Pescucci; F., Ariani; G., Hayek; P., Balestri; Bergo, Anna; Badaracco, Gianfranco; M., Zappella; V., Broccoli; A., Renieri; KILSTRUP-NIELSEN, Charlotte; Landsberger, Nicoletta
CDKL5 influences RNA splicing activity by its association to the nuclear speckle molecular machinery.
2009-01-01 Ricciardi, S.; KILSTRUP-NIELSEN, Charlotte; Bienvenu, T.; Jacquette, A.; Landsberger, Nicoletta; Broccoli, V.
Molecular characterisation of the human apo(a)-plasminogen gene family clustered on the telomeric region of chromosome 6 (6q26-27).
1994-01-01 Magnaghi, P; Citterio, E; Malgaretti, N; Acquati, Francesco; Ottolenghi, S; Taramelli, Roberto
A novel SYN1 missense mutation in non-syndromic X-linked intellectual disability affects synaptic vesicle life cycle, clustering and mobility
2017-01-01 Guarnieri, Fabrizia C.; Pozzi, Davide; Raimondi, Andrea; Fesce, Riccardo; Valente, Maria M.; Delvecchio, Vincenza S.; Van Esch, Hilde; Matteoli, Michela; Benfenati, Fabio; D'Adamo, Patrizia; Valtorta, Flavia
Oestrogenic repression of human coagulation factor VII expression mediated through an oestrogen response element sequence motif in the promoter region.
2002-01-01 Di Bitondo, R; Hall, Aj; Peake, Ir; Iacoviello, Licia; Winship, Pr
Pregnenolone-methyl-ether enhances CLIP170 and microtubule functions improving spine maturation and hippocampal deficits related to CDKL5 deficiency
2022-01-01 Barbiero, I; Zamberletti, E; Tramarin, M; Gabaglio, M; Peroni, D; De Rosa, R; Baldin, S; Bianchi, M; Rubino, T; Kilstrup-Nielsen, C
Reduced AKT/mTOR signaling and protein synthesis dysregulation in a Rett syndrome animal model.
2011-01-01 Ricciardi, S.; Boggio, E. M.; Grosso, S.; Lonetti, G.; Forlani, Greta; Stefanelli, G.; Calcagno, E.; Morello, N.; Landsberger, N.; Biffo, S.; Pizzorusso, T.; Giustetto, M.; Broccoli, V.
Substitution of Leu for Pro-193in the insulin receptor in a patient with a genetic form of severe insulinresistance.
1993-01-01 Carrera, P; Cordera, R; Ferrari, M; Cremonesi, L; Taramelli, Roberto; Andraghetti, G; Carducci, C; Dozio, N; Pozza, G; Taylor, Si
The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis
2010-01-01 Forlani, Greta; Giarda, Elisa; Ala, U.; Di Cunto, F.; Salani, M.; Tupler, R.; KILSTRUP-NIELSEN, Charlotte; Landsberger, Nicoletta
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| The antidepressant tianeptine reverts synaptic AMPA receptor defects caused by deficiency of CDKL5 | 1-gen-2018 | Tramarin, M.; Rusconi, L.; Pizzamiglio, L.; Barbiero, I.; Peroni, D.; Scaramuzza, L.; Guilliams, T.; Cavalla, D.; Antonucci, F.; Kilstrup-Nielsen, C. | |
| CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome | 1-gen-2005 | F., Mari; S., Azimonti; I., Bertani; F., Bolognese; E., Colombo; R., Caselli; E., Scala; I., Longo; S., Grosso; C., Pescucci; F., Ariani; G., Hayek; P., Balestri; Bergo, Anna; Badaracco, Gianfranco; M., Zappella; V., Broccoli; A., Renieri; KILSTRUP-NIELSEN, Charlotte; Landsberger, Nicoletta | |
| CDKL5 influences RNA splicing activity by its association to the nuclear speckle molecular machinery. | 1-gen-2009 | Ricciardi, S.; KILSTRUP-NIELSEN, Charlotte; Bienvenu, T.; Jacquette, A.; Landsberger, Nicoletta; Broccoli, V. | |
| Molecular characterisation of the human apo(a)-plasminogen gene family clustered on the telomeric region of chromosome 6 (6q26-27). | 1-gen-1994 | Magnaghi, P; Citterio, E; Malgaretti, N; Acquati, Francesco; Ottolenghi, S; Taramelli, Roberto | |
| A novel SYN1 missense mutation in non-syndromic X-linked intellectual disability affects synaptic vesicle life cycle, clustering and mobility | 1-gen-2017 | Guarnieri, Fabrizia C.; Pozzi, Davide; Raimondi, Andrea; Fesce, Riccardo; Valente, Maria M.; Delvecchio, Vincenza S.; Van Esch, Hilde; Matteoli, Michela; Benfenati, Fabio; D'Adamo, Patrizia; Valtorta, Flavia | |
| Oestrogenic repression of human coagulation factor VII expression mediated through an oestrogen response element sequence motif in the promoter region. | 1-gen-2002 | Di Bitondo, R; Hall, Aj; Peake, Ir; Iacoviello, Licia; Winship, Pr | |
| Pregnenolone-methyl-ether enhances CLIP170 and microtubule functions improving spine maturation and hippocampal deficits related to CDKL5 deficiency | 1-gen-2022 | Barbiero, I; Zamberletti, E; Tramarin, M; Gabaglio, M; Peroni, D; De Rosa, R; Baldin, S; Bianchi, M; Rubino, T; Kilstrup-Nielsen, C | |
| Reduced AKT/mTOR signaling and protein synthesis dysregulation in a Rett syndrome animal model. | 1-gen-2011 | Ricciardi, S.; Boggio, E. M.; Grosso, S.; Lonetti, G.; Forlani, Greta; Stefanelli, G.; Calcagno, E.; Morello, N.; Landsberger, N.; Biffo, S.; Pizzorusso, T.; Giustetto, M.; Broccoli, V. | |
| Substitution of Leu for Pro-193in the insulin receptor in a patient with a genetic form of severe insulinresistance. | 1-gen-1993 | Carrera, P; Cordera, R; Ferrari, M; Cremonesi, L; Taramelli, Roberto; Andraghetti, G; Carducci, C; Dozio, N; Pozza, G; Taylor, Si | |
| The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis | 1-gen-2010 | Forlani, Greta; Giarda, Elisa; Ala, U.; Di Cunto, F.; Salani, M.; Tupler, R.; KILSTRUP-NIELSEN, Charlotte; Landsberger, Nicoletta |
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