Published 2022
| Version v1
Publication
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease
Creators
- Calì, Elisa
- Lin, Sheng-Jia
- Rocca, Clarissa
- Sahin, Yavuz
- Al Shamsi, Aisha
- El Chehadeh, Salima
- Chaabouni, Myriam
- Mankad, Kshitij
- Galanaki, Evangelia
- Efthymiou, Stephanie
- Sudhakar, Sniya
- Athanasiou-Fragkouli, Alkyoni
- Çelik, Tamer
- Narlı, Nejat
- Bianca, Sebastiano
- Murphy, David
- De Carvalho Moreira, Francisco Martins
- Andrea Accogli, null
- Petree, Cassidy
- Huang, Kevin
- Monastiri, Kamel
- Edizadeh, Masoud
- Nardello, Rosaria
- Ognibene, Marzia
- De Marco, Patrizia
- Ruggieri, Martino
- Zara, Federico
- Striano, Pasquale
- Şahin, Yavuz
- Al-Gazali, Lihadh
- Abi Warde, Marie Therese
- Gerard, Benedicte
- Zifarelli, Giovanni
- Beetz, Christian
- Fortuna, Sara
- Soler, Miguel
- Valente, Enza Maria
- Varshney, Gaurav
- Maroofian, Reza
- Salpietro, Vincenzo
- Houlden, Henry
Contributors
Others:
- Calì, Elisa
- Lin, Sheng-Jia
- Rocca, Clarissa
- Sahin, Yavuz
- Al Shamsi, Aisha
- El Chehadeh, Salima
- Chaabouni, Myriam
- Mankad, Kshitij
- Galanaki, Evangelia
- Efthymiou, Stephanie
- Sudhakar, Sniya
- Athanasiou-Fragkouli, Alkyoni
- Çelik, Tamer
- Narlı, Nejat
- Bianca, Sebastiano
- Murphy, David
- De Carvalho Moreira, Francisco Martin
- Andrea Accogli, Null
- Petree, Cassidy
- Huang, Kevin
- Monastiri, Kamel
- Edizadeh, Masoud
- Nardello, Rosaria
- Ognibene, Marzia
- De Marco, Patrizia
- Ruggieri, Martino
- Zara, Federico
- Striano, Pasquale
- Şahin, Yavuz
- Al-Gazali, Lihadh
- Abi Warde, Marie Therese
- Gerard, Benedicte
- Zifarelli, Giovanni
- Beetz, Christian
- Fortuna, Sara
- Soler, Miguel
- Valente, Enza Maria
- Varshney, Gaurav
- Maroofian, Reza
- Salpietro, Vincenzo
- Houlden, Henry
Description
The mediator (MED) multisubunit-complex modulates the activity of the transcriptional machinery, and genetic defects in different MED subunits (17, 20, 27) have been implicated in neurologic diseases. In this study, we identified a recurrent homozygous variant in MED11 (c.325C>T; p.Arg109Ter) in 7 affected individuals from 5 unrelated families.
Additional details
Identifiers
- URL
- http://hdl.handle.net/11567/1096173
- URN
- urn:oai:iris.unige.it:11567/1096173
Origin repository
- Origin repository
- UNIGE