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1,997 results

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Page 1
DLG4-related synaptopathy: a new rare brain disorder.
Rodríguez-Palmero A, Boerrigter MM, Gómez-Andrés D, Aldinger KA, Marcos-Alcalde Í, Popp B, Everman DB, Lovgren AK, Arpin S, Bahrambeigi V, Beunders G, Bisgaard AM, Bjerregaard VA, Bruel AL, Challman TD, Cogné B, Coubes C, de Man SA, Denommé-Pichon AS, Dye TJ, Elmslie F, Feuk L, García-Miñaúr S, Gertler T, Giorgio E, Gruchy N, Haack TB, Haldeman-Englert CR, Haukanes BI, Hoyer J, Hurst ACE, Isidor B, Soller MJ, Kushary S, Kvarnung M, Landau YE, Leppig KA, Lindstrand A, Kleinendorst L, MacKenzie A, Mandrile G, Mendelsohn BA, Moghadasi S, Morton JE, Moutton S, Müller AJ, O'Leary M, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Pfundt R, Pode-Shakked B, Rauch A, Repnikova E, Revah-Politi A, Ross MJ, Ruivenkamp CAL, Sarrazin E, Savatt JM, Schlüter A, Schönewolf-Greulich B, Shad Z, Shaw-Smith C, Shieh JT, Shohat M, Spranger S, Thiese H, Mau-Them FT, van Bon B, van de Burgt I, van de Laar IMBH, van Drie E, van Haelst MM, van Ravenswaaij-Arts CM, Verdura E, Vitobello A, Waldmüller S, Whiting S, Zweier C, Prada CE, de Vries BBA, Dobyns WB, Reiter SF, Gómez-Puertas P, Pujol A, Tümer Z. Rodríguez-Palmero A, et al. Genet Med. 2021 May;23(5):888-899. doi: 10.1038/s41436-020-01075-9. Epub 2021 Feb 17. Genet Med. 2021. PMID: 33597769 Free article.
PURPOSE: Postsynaptic density protein-95 (PSD-95), encoded by DLG4, regulates excitatory synaptic function in the brain. Here we present the clinical and genetic features of 53 patients (42 previously unpublished) with DLG4 variants. ...CONCLUSION: The present study …
PURPOSE: Postsynaptic density protein-95 (PSD-95), encoded by DLG4, regulates excitatory synaptic function in the brain. Here we pres …
DLG4-Related Synaptopathy.
Tümer Z, Dye TJ, Prada C, White-Brown AM, MacKenzie A, Levy AM. Tümer Z, et al. 2023 Jun 22. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2023 Jun 22. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 37347881 Free Books & Documents. Review.
Joint laxity is a relatively common finding (36.9%), and scoliosis is noted in 20% of individuals. DIAGNOSIS/TESTING: The diagnosis of DLG4-related synaptopathy is established in a proband with suggestive clinical findings and a heterozygous pathogenic variant in DLG4 …
Joint laxity is a relatively common finding (36.9%), and scoliosis is noted in 20% of individuals. DIAGNOSIS/TESTING: The diagnosis of DL …
Developmental epileptic encephalopathy in DLG4-related synaptopathy.
Kassabian B, Levy AM, Gardella E, Aledo-Serrano A, Ananth AL, Brea-Fernández AJ, Caumes R, Chatron N, Dainelli A, De Wachter M, Denommé-Pichon AS, Dye TJ, Fazzi E, Felt R, Fernández-Jaén A, Fernández-Prieto M, Gantz E, Gasperowicz P, Gil-Nagel A, Gómez-Andrés D, Greiner HM, Guerrini R, Haanpää MK, Helin M, Hoyer J, Hurst ACE, Kallish S, Karkare SN, Khan A, Kleinendorst L, Koch J, Kothare SV, Koudijs SM, Lagae L, Lakeman P, Leppig KA, Lesca G, Lopergolo D, Lusk L, Mackenzie A, Mei D, Møller RS, Pereira EM, Platzer K, Quelin C, Revah-Politi A, Rheims S, Rodríguez-Palmero A, Rossi A, Santorelli F, Seinfeld S, Sell E, Stephenson D, Szczaluba K, Trinka E, Umair M, Van Esch H, van Haelst MM, Veenma DCM, Weber S, Weckhuysen S, Zacher P, Tümer Z, Rubboli G. Kassabian B, et al. Epilepsia. 2024 Apr;65(4):1029-1045. doi: 10.1111/epi.17876. Epub 2024 Feb 29. Epilepsia. 2024. PMID: 38135915
We describe here the phenotypic spectrum of epilepsy and associated comorbidities in patients with DLG4-related synaptopathy. METHODS: We included 35 individuals with a DLG4 variant and epilepsy as part of a multicenter study. ...Our study confirms DEE as part of th …
We describe here the phenotypic spectrum of epilepsy and associated comorbidities in patients with DLG4-related synaptopathy. METHODS …
Synaptic pruning by microglia is necessary for normal brain development.
Paolicelli RC, Bolasco G, Pagani F, Maggi L, Scianni M, Panzanelli P, Giustetto M, Ferreira TA, Guiducci E, Dumas L, Ragozzino D, Gross CT. Paolicelli RC, et al. Science. 2011 Sep 9;333(6048):1456-8. doi: 10.1126/science.1202529. Epub 2011 Jul 21. Science. 2011. PMID: 21778362
A deep intronic DLG4 variant resulting in DLG4-related synaptopathy.
Levy AM, Ganapathi M, Chung WK, Tümer Z. Levy AM, et al. Clin Genet. 2024 Jan;105(1):77-80. doi: 10.1111/cge.14411. Epub 2023 Aug 1. Clin Genet. 2024. PMID: 37525972
The rare autosomal dominant brain disorder DLG4-related synaptopathy is caused by de novo variants in DLG4 (encoding PSD-95), the majority of which are predicted to be protein-truncating. ...Here, we describe a young boy with a deep intronic DLG4 variant (c.2 …
The rare autosomal dominant brain disorder DLG4-related synaptopathy is caused by de novo variants in DLG4 (encoding PSD-95), …
The scaffold protein DLG4 facilitates RNF63-mediated ubiquitination and degradation of STAT3 in non-small cell lung cancer.
Chen S, Xu H, Li N, Yang Y, Pang R, Zhang S, Qiao J, Chen H. Chen S, et al. Cell Commun Signal. 2025 Jul 6;23(1):325. doi: 10.1186/s12964-025-02334-5. Cell Commun Signal. 2025. PMID: 40619404 Free PMC article.
The xenograft model also verifies the inhibitory effects of DLG4 on tumor growth in vivo. Moreover, we determined that DLG4 functions as a novel regulator of STAT3. ...Importantly, in human NSCLC specimens, endogenous DLG4 and RNF63 expression levels are inve …
The xenograft model also verifies the inhibitory effects of DLG4 on tumor growth in vivo. Moreover, we determined that DLG4 fu …
Dlg4 and Vamp2 are involved in comorbid epilepsy and attention-deficit hyperactivity disorder: A microarray data study.
Xi XJ, Tang JH, Zhang BB, Xiao X, Hu XY, Wan Y, Zhou C, Lin H. Xi XJ, et al. Epilepsy Behav. 2020 Sep;110:107192. doi: 10.1016/j.yebeh.2020.107192. Epub 2020 Jun 21. Epilepsy Behav. 2020. PMID: 32580088
RESULTS: Three modules closely related to epilepsy and ADHD were screened using WGCNA; DEGs in this module were involved in the synaptic vesicle cycle, axon and neuron regeneration, and neurotransmission. The Dlg4 and Vamp2 genes were selected as common candidate factors i …
RESULTS: Three modules closely related to epilepsy and ADHD were screened using WGCNA; DEGs in this module were involved in the synaptic ves …
Restoring endogenous Dlg4/PSD95 expression by an artificial transcription factor ameliorates cognitive and motor learning deficits in the R6/2 mouse model of Huntington's disease.
Fernández G, Leiva K, Bustos FJ, van Zundert B. Fernández G, et al. Clin Epigenetics. 2025 Jun 12;17(1):100. doi: 10.1186/s13148-025-01903-2. Clin Epigenetics. 2025. PMID: 40506760 Free PMC article.
The postsynaptic density protein 95 (PSD-95, hereafter Dlg4/PSD95) is a key synaptic plasticity protein reduced in HD and other neurodegenerative diseases such as Alzheimer's disease (AD). Epigenetic silencing of plasticity and memory genes contributes to AD pathology and …
The postsynaptic density protein 95 (PSD-95, hereafter Dlg4/PSD95) is a key synaptic plasticity protein reduced in HD and other neuro …
FMRP, FXR1 protein and Dlg4 mRNA, which are associated with fragile X syndrome, are involved in the ubiquitin-proteasome system.
Shimizu H, Hohjoh H. Shimizu H, et al. Sci Rep. 2023 Feb 2;13(1):1956. doi: 10.1038/s41598-023-29152-4. Sci Rep. 2023. PMID: 36732356 Free PMC article.
Fmr1-, Fxr1- and Dlg4-knockdown and Fmr1- and Fxr1-knockdown resulted in increased ubiquitination and proteasome activity, respectively. FXR1 protein was further confirmed to be associated with proteasomes, and Dlg4 mRNA itself was found to be involved in the UPS. K …
Fmr1-, Fxr1- and Dlg4-knockdown and Fmr1- and Fxr1-knockdown resulted in increased ubiquitination and proteasome activity, respective …
1,997 results