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98 results

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Page 1
SETD5 haploinsufficiency affects mitochondrial compartment in neural cells.
Zaghi M, Longo F, Massimino L, Rubio A, Bido S, Mazzara PG, Bellini E, Banfi F, Podini P, Maltecca F, Zippo A, Broccoli V, Sessa A. Zaghi M, et al. Mol Autism. 2023 Jun 1;14(1):20. doi: 10.1186/s13229-023-00550-9. Mol Autism. 2023. PMID: 37264456 Free PMC article.
RESULTS: Mitochondrial impairment is facilitated by transcriptional aberrations originated by the decrease of the SETD5 enzyme. Low levels of SETD5 resulted in fragmented mitochondria, reduced mitochondrial membrane potential, and ATP production both in neural precu …
RESULTS: Mitochondrial impairment is facilitated by transcriptional aberrations originated by the decrease of the SETD5 enzyme. Low l …
Structure, activity and function of the lysine methyltransferase SETD5.
Li M, Hou Y, Zhang Z, Zhang B, Huang T, Sun A, Shao G, Lin Q. Li M, et al. Front Endocrinol (Lausanne). 2023 Feb 17;14:1089527. doi: 10.3389/fendo.2023.1089527. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 36875494 Free PMC article. Review.
SET domain-containing 5 (SETD5) is an uncharacterized member of the protein lysine methyltransferase family and is best known for its transcription machinery by methylating histone H3 on lysine 36 (H3K36). These well-characterized functions of SETD5 are transcriptio …
SET domain-containing 5 (SETD5) is an uncharacterized member of the protein lysine methyltransferase family and is best known for its …
Genetic variations on SETD5 underlying autistic conditions.
Fernandes IR, Cruz ACP, Ferrasa A, Phan D, Herai RH, Muotri AR. Fernandes IR, et al. Dev Neurobiol. 2018 May;78(5):500-518. doi: 10.1002/dneu.22584. Epub 2018 Mar 5. Dev Neurobiol. 2018. PMID: 29484850
The prevalence of autism spectrum disorders (ASD) and the number of identified ASD-related genes have increased in recent years. The SETD5 gene encodes a SET-containing-domain 5 protein, a likely reader enzyme. Genetic evidences suggest that SETD5 malfunction contri …
The prevalence of autism spectrum disorders (ASD) and the number of identified ASD-related genes have increased in recent years. The SETD …
Neurological and psychiatric phenotype of a multicenter cohort of patients with SETD5-related neurodevelopmental disorder.
De Falco A, De Dominicis A, Trivisano M, Specchio N, Digilio MC, Piscopo C, Capra V, Scala M, Iacomino M, Accogli A, Romano F, Salpietro V, Mancardi M, Striano P, Operto FF, Gburek-Augustat J, Perrin L, Capri Y, Lupo V, Elia M, Manti F, Pisani F, Brunetti-Pierri N, Terrone G. De Falco A, et al. Eur J Paediatr Neurol. 2025 Jan;54:8-17. doi: 10.1016/j.ejpn.2024.11.008. Epub 2024 Nov 23. Eur J Paediatr Neurol. 2025. PMID: 39603091
Pathogenic variants in the SETD5 gene cause a neurodevelopmental disorder characterized by intellectual disability, autism, and facial dysmorphisms, with incomplete penetrance. To date, no distinctive neurological, psychiatric, electroencephalographic, and neuroimaging fea …
Pathogenic variants in the SETD5 gene cause a neurodevelopmental disorder characterized by intellectual disability, autism, and facia …
SETD5 Regulates Glycolysis in Breast Cancer Stem-Like Cells and Fuels Tumor Growth.
Yang Z, Zhang C, Liu X, Che N, Feng Y, Xuan Y. Yang Z, et al. Am J Pathol. 2022 Apr;192(4):712-721. doi: 10.1016/j.ajpath.2021.12.006. Epub 2022 Jan 19. Am J Pathol. 2022. PMID: 35063407 Free article.
The goal of this study was to explore the mechanisms underlying the promotion of stem-like and glycolysis activation traits by SETD5. Previous studies have shown that overexpression of SETD5 in breast cancer tissues is associated positively with progression. The pre …
The goal of this study was to explore the mechanisms underlying the promotion of stem-like and glycolysis activation traits by SETD5. …
SETD5 facilitates stemness and represses ferroptosis via m6A-mediating PKM2 stabilization in non-small cell lung cancer.
Liu X, Cui Y, Gong J, Yu X, Cui Y, Xuan Y. Liu X, et al. Oncogene. 2025 Aug;44(29):2474-2489. doi: 10.1038/s41388-025-03426-9. Epub 2025 Apr 30. Oncogene. 2025. PMID: 40307507
Consequently, further investigation is required to clarify the pivotal role of SETD5 in NSCLC stemness and its related mechanism. Thus, this study employed the NSCLC tissue microarray and bioinformatics tools to analyze SETD5 expression and determine its effect on s …
Consequently, further investigation is required to clarify the pivotal role of SETD5 in NSCLC stemness and its related mechanism. Thu …
Downregulation of SETD5 Suppresses the Tumorigenicity of Hepatocellular Carcinoma Cells.
Park M, Moon B, Kim JH, Park SJ, Kim SK, Park K, Kim J, Kim SY, Kim JH, Kim JA. Park M, et al. Mol Cells. 2022 Aug 31;45(8):550-563. doi: 10.14348/molcells.2022.0009. Epub 2022 Aug 5. Mol Cells. 2022. PMID: 35950456 Free PMC article.
Transcriptome analysis revealed that SETD5 loss downregulated the interferon-mediated inflammatory response in HCC cells. In addition, SETD5 depletion downregulated the expression of a critical glycolysis gene, PKM (pyruvate kinase M1/2), and decreased glycolysis ac …
Transcriptome analysis revealed that SETD5 loss downregulated the interferon-mediated inflammatory response in HCC cells. In addition …
Setd5, but not Setd2, is indispensable for retinal cell survival and proliferation.
Iwagawa T, Kawabata R, Fukushima M, Kuribayashi H, Watanabe S. Iwagawa T, et al. FEBS Lett. 2023 Feb;597(3):427-436. doi: 10.1002/1873-3468.14537. Epub 2022 Nov 22. FEBS Lett. 2023. PMID: 36349512 Free article.
The mutant SETD5 lacking the SET domain failed to reverse the phenotypes observed in the shSetd5-expressing retinas, while SETD5S1257*, which does not interact with HDAC3 and PAF1 complexes, rescued proliferation, but not apoptosis, induced by shSetd5. Taken together, we f …
The mutant SETD5 lacking the SET domain failed to reverse the phenotypes observed in the shSetd5-expressing retinas, while SETD5S1257 …
Neurobehavioral characteristics of mice with SETD5 mutations as models of IDD23 and KBG syndromes.
Nakagawa T, Hattori S, Hosoi T, Nakayama K. Nakagawa T, et al. Front Genet. 2023 Jan 4;13:1022339. doi: 10.3389/fgene.2022.1022339. eCollection 2022. Front Genet. 2023. PMID: 36685966 Free PMC article. Review.
Heterozygous loss-of-function mutations of the SETD5 (SET domain containing 5) gene have been identified in individuals with an NDD designated IDD23 (intellectual developmental disorder, autosomal dominant 23). ...However, recent studies have identified SETD5 mutati …
Heterozygous loss-of-function mutations of the SETD5 (SET domain containing 5) gene have been identified in individuals with an NDD d …
98 results