Zobrazeno 1 - 10
of 63
pro vyhledávání: '"WOREE"'
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
BackgroundWWOX-related epileptic encephalopathy is an autosomal recessive disorder caused by mutations in the WW-containing oxidoreductase gene, characterized by the onset of refractory seizures in infants. Early-onset epilepsy, electroencephalograph
Externí odkaz:
https://doaj.org/article/a5db56f2fe3e4f64a2f717fac9b0b559
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-7 (2023)
Abstract Background Biallelic loss-of-function variants in WWOX cause WWOX-related epileptic encephalopathy (WOREE syndrome), which has been reported in 60 affected individuals to date. In this study, we report on an affected individual with WOREE sy
Externí odkaz:
https://doaj.org/article/141f98af919a46e8b28ce642b7eb05d5
Autor:
Laura Battaglia, Giovanna Scorrano, Rossana Spiaggia, Antonio Basile, Stefano Palmucci, Pietro Valerio Foti, Corrado Spatola, Michele Iacomino, Franco Marinangeli, Elisa Francia, Francesco Comisi, Antonio Corsello, Vincenzo Salpietro, Alessandro Vittori, Emanuele David
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
The WWOX gene encodes a 414-amino-acid protein composed of two N-terminal WW domains and a C-terminal short-chain dehydrogenase/reductase (SDR) domain. WWOX protein is highly conserved among species and mainly expressed in the cerebellum, cerebral co
Externí odkaz:
https://doaj.org/article/0a81c05f02d7490c98b72579ef430f3c
Publikováno v:
EMBO Molecular Medicine, Vol 13, Iss 12, Pp 1-15 (2021)
Abstract WW domain‐containing oxidoreductase (WWOX) is an emerging neural gene‐regulating homeostasis of the central nervous system. Germline biallelic mutations in WWOX cause WWOX‐related epileptic encephalopathy (WOREE) syndrome and spinocere
Externí odkaz:
https://doaj.org/article/b0c97a48d8e64ff2bf3b116d611d7e9f
Akademický článek
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Autor:
Daniel J Steinberg, Srinivasarao Repudi, Afifa Saleem, Irina Kustanovich, Sergey Viukov, Baraa Abudiab, Ehud Banne, Muhammad Mahajnah, Jacob H Hanna, Shani Stern, Peter L Carlen, Rami I Aqeilan
Publikováno v:
EMBO Molecular Medicine, Vol 13, Iss 8, Pp 1-20 (2021)
Abstract Developmental and epileptic encephalopathies (DEE) are a group of disorders associated with intractable seizures, brain development, and functional abnormalities, and in some cases, premature death. Pathogenic human germline biallelic mutati
Externí odkaz:
https://doaj.org/article/87977a9dce6149adbe8551e943f5992a
Autor:
Antonella Riva, Giulia Nobile, Thea Giacomini, Marzia Ognibene, Marcello Scala, Ganna Balagura, Francesca Madia, Andrea Accogli, Ferruccio Romano, Domenico Tortora, Mariasavina Severino, Paolo Scudieri, Simona Baldassari, Ilaria Musante, Paolo Uva, Vincenzo Salpietro, Annalaura Torella, Vincenzo Nigro, Valeria Capra, Lino Nobili, Pasquale Striano, Maria Margherita Mancardi, Federico Zara, Michele Iacomino
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
BackgroundWOREE syndrome is a rare neurodevelopmental disorder featuring drug-resistant epilepsy and global developmental delay. The disease, caused by biallelic pathogenic variants in the WWOX gene, usually leads to severe disability or death within
Externí odkaz:
https://doaj.org/article/099c90ae3eb84b298ac7c4f4f605bf83
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
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Autor:
Michele Iacomino, Simona Baldassari, Yuki Tochigi, Katarzyna Kośla, Francesca Buffelli, Annalaura Torella, Mariasavina Severino, Dario Paladini, Luana Mandarà, Antonella Riva, Marcello Scala, Ganna Balagura, Andrea Accogli, Vincenzo Nigro, Carlo Minetti, Ezio Fulcheri, Federico Zara, Andrzej K. Bednarek, Pasquale Striano, Hiroetsu Suzuki, Vincenzo Salpietro
Publikováno v:
Frontiers in Neuroscience, Vol 14 (2020)
Mutations in the WWOX gene cause a broad range of ultra-rare neurodevelopmental and brain degenerative disorders, associated with a high likelihood of premature death in animal models as well as in humans. The encoded Wwox protein is a WW domain-cont
Externí odkaz:
https://doaj.org/article/ecbe59a5266242c5aee1486744a8d003
Autor:
Daniel J. Steinberg, Rami I. Aqeilan
Publikováno v:
Cells, Vol 10, Iss 11, p 3082 (2021)
The WW domain-containing oxidoreductase (WWOX) gene was originally discovered as a putative tumor suppressor spanning the common fragile site FRA16D, but as time has progressed the extent of its pleiotropic function has become apparent. At present, W
Externí odkaz:
https://doaj.org/article/d1a4b639747b4d50b6f1ed132781d29b