Research Articles
Although there is still much to learn about DLG4-related Synaptopathy, in the last few years, various publications have been produced detailing the characteristics of the disease, common traits, association with other diseases, and overall functions of DLG4 and PSD-95. We’ve collected links to known articles below for easy access to the community. Any researchers with new publications are welcome to contact us to include additional links here!
GeneReviews Article Recognizing DLG4-Synaptopathy, June 2023
Dr. Zeynep Tümer, Dr. Carlos Prada, Dr. Thomas Dye, Dr. Alex MacKenzie, Alexandre White-Brown, Amanda Levy
Neurodevelomental Disorders Associated with PSD-95 and Its Interaction Partners, June 2022
Amanda M. Levy, Paulino Gomez-Puertas, and Zeynep Tümer
Diversity of synaptic protein complexes as a function of the abundance of their constituent proteins: A modeling approach. Jan 2022
Miski M, Keömley-Horváth BM, Rákóczi Megyeriné D, Csikász-Nagy A, Gáspári Z (2022) PLOS Computational Biology 18(1): e1009758. https://doi.org/10.1371/journal.pcbi.1009758
DLG4-related Synaptopathy: a new rare brain disorder, Feb 2021
Agustí Rodríguez-Palmero et al.
From Hyposociability to Hypersociability—The Effects of PSD-95 Deficiency on the Dysfunctional Development of Social Behavior, Jan 2021
Wen-Jun Gao and Nancy R. Mack
Multiplex gene and phenotype network to characterize shared genetic pathways of epilepsy and autism, Jan 2021
Jacqueline Peng, Yunyun Zhou & Kai Wang
DLG4 and Vamp2 involvement in comorbidity between Epilepsy and ADHD, June 2020
Xiao-Jun Xi, Ji-Hong Tang, Bing-Bing Zhang, Xiao Xiao, Xiao-Yue Hu, Yu Wan, Cheng Zhou, Hong Lin
Truncating Variants of the DLG4 Gene, June 2018
S Moutton, A-L Bruel, M Assoum, M Chevarin, E Sarrazin, C Goizet, A-M Guerrot, A Charollais, P Charles, D Heron, A Faudet, N Houcinat, A Vitobello, F Tran-Mau-Them, C Philippe, Y Duffourd, C Thauvin-Robinet, L Faivre
Integrative genomics study of microglial transcriptome reveals effect of DLG4 (PSD95) on white matter in preterm infants, Feb 2017
Michelle L Krishnan, Juliette Van Steenwinckel, Anne-Laure Schang, Jun Yan, Johanna Arnadottir, Tifenn Le Charpentier, Zsolt Csaba, Pascal Dournaud, Sara Cipriani, Constance Auvynet, Luigi Titomanlio, Julien Pansiot, Gareth Ball, James P Boardman, Andrew J Walley, Alka Saxena, Ghazala Mirza, Bobbi Fleiss, A David Edwards, Enrico Petretto, Pierre Gressens
Meta-analysis of 2,104 Trios Provides Support for 10 Novel Candidtate Genes for Intellectual Disability, May 2016
Stefan H. Lelieveld, Margot R.F. Reijnders, Rolph Pfundt, Helger G. Yntema, Erik-Jan Kamsteeg, Petra de Vries, Bert B.A. de Vries, Marjolein H. Willemsen, Tjitske Kleefstra, Katharina Löhner, Maaike Vreeburg, Servi Stevens, Ineke van der Burgt, Ernie M.H.F. Bongers, Alexander P.A. Stegmann, Patrick Rump, Tuula Rinne, Marcel R. Nelen, Joris A. Veltman, Lisenka E.L.M. Vissers, Han G. Brunner, Christian Gilissen