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Page 1
Genetic Characteristics of a Large Pediatric Cohort of Patients with Inborn Errors of Immunity: Single-Center Experience.
Kuzmenko N, Alexenko M, Mukhina A, Rodina Y, Fadeeva M, Pershin D, Kieva A, Raykina E, Maschan M, Novichkova G, Shcherbina A. Kuzmenko N, et al. J Clin Immunol. 2024 Jul 25;44(7):165. doi: 10.1007/s10875-024-01767-w. J Clin Immunol. 2024. PMID: 39052144
Four females with non-random X-inactivation exhibited symptoms of X-linked diseases (BTK, WAS, CYBB, IKBKG gene defects). Despite a relatively low rate of consanguinity in Russia, 47.9% of autosomal recessive gene defects were found in a homozygous state. ...
Four females with non-random X-inactivation exhibited symptoms of X-linked diseases (BTK, WAS, CYBB, IKBKG gene defects). Despite a r …
Linear ubiquitination at damaged lysosomes induces local NFKB activation and controls cell survival.
Zein L, Dietrich M, Balta D, Bader V, Scheuer C, Zellner S, Weinelt N, Vandrey J, Mari MC, Behrends C, Zunke F, Winklhofer KF, Van Wijk SJL. Zein L, et al. Autophagy. 2025 May;21(5):1075-1095. doi: 10.1080/15548627.2024.2443945. Epub 2025 Jan 2. Autophagy. 2025. PMID: 39744815 Free PMC article.
LMP-induced M1 poly-Ub at damaged lysosomes contributes to lysosome degradation, recruits the NFKB (nuclear factor kappa B) modulator IKBKG/NEMO and locally activates the inhibitor of NFKB kinase (IKK) complex to trigger NFKB activation. ...Our results reveal novel …
LMP-induced M1 poly-Ub at damaged lysosomes contributes to lysosome degradation, recruits the NFKB (nuclear factor kappa B) modulator IKB …
Loss of DDX24 inhibits lung cancer progression by stimulating IKBKG splicing-mediated autophagy.
Sun S, Jing X, Tong G, Chen C, Xie S, Wang C, Chen D, Zhao J, Qi Y, Zhang W, Liu C, Zhang G, Zhang J, Sun B, Wang Y, Lv Y. Sun S, et al. Theranostics. 2025 Jan 2;15(5):1879-1895. doi: 10.7150/thno.102425. eCollection 2025. Theranostics. 2025. PMID: 39897555 Free PMC article.
Mechanistically, DDX24 regulates the alternative splicing of autophagy-related genes, including IKBKG. We demonstrate that DDX24 directly binds to IKBKG pre-mRNA, whereas DDX24 ablation stimulates the generation of the long splicing isoform of IKBKG, thereby …
Mechanistically, DDX24 regulates the alternative splicing of autophagy-related genes, including IKBKG. We demonstrate that DDX24 dire …
The E3 ubiquitin ligase MARCH2 controls TNF-α mediated inflammation by autoubiquitination.
Chathuranga K, Rathnapala P, Weerawardhana A, Kim TH, Seong Y, Gayan Chathuranga WA, Subasinghe A, Haluwana DK, Gamage N, Choi YJ, Jung JU, Lee JS. Chathuranga K, et al. Cell Commun Signal. 2025 May 31;23(1):257. doi: 10.1186/s12964-025-02260-6. Cell Commun Signal. 2025. PMID: 40450320 Free PMC article.
Stimulation by inflammatory cytokines such as TNF induces dimerization of MARCH2 at a later stage and dimerized MARCH2 undergoes K63-linked autoubiquitination at lysine 127 and 238, which promotes NEMO recognition, ubiquitination and proteasomal degradation. We also show a …
Stimulation by inflammatory cytokines such as TNF induces dimerization of MARCH2 at a later stage and dimerized MARCH2 undergoes K63-linked …
Long-read sequencing is required for precision diagnosis of incontinentia pigmenti.
Wojcik MH, Clark RD, Elias AF, Genetti CA, Madden JA, Simpson D, Golkar L, Zalusky MPG, Miller AL, Rodriguez A, Goffena J, Dash CA, Damaraju N, Gibson SB, Storz SHR, Anderson ZB, Gustafson JA, Thiffault I, Farrow EG, Pastinen T, Lin J, Huang JT, Beggs AH, Agrawal PB; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; Miller DT, Miller DE. Wojcik MH, et al. HGG Adv. 2025 Jul 10;6(3):100468. doi: 10.1016/j.xhgg.2025.100468. Epub 2025 Jun 12. HGG Adv. 2025. PMID: 40515401 Free PMC article.
Incontinentia pigmenti (IP) is caused by loss-of-function variants in IKBKG, with molecular genetic diagnosis complicated by a pseudogene. We describe seven individuals from three families with IP but negative clinical genetic testing in whom long-read sequencing identifie …
Incontinentia pigmenti (IP) is caused by loss-of-function variants in IKBKG, with molecular genetic diagnosis complicated by a pseudo …
Loss-of-function mutations in Keratin 32 gene disrupt skin immune homeostasis in pityriasis rubra pilaris.
Shi P, Chen W, Lyu X, Wang Z, Li W, Jia F, Zheng C, Liu T, Wang C, Zhang Y, Mi Z, Sun Y, Chen X, Chen S, Zhou G, Liu Y, Lin Y, Bai F, Sun Q, Ogese MO, Yu Q, Liu J, Liu H, Zhang F. Shi P, et al. Nat Commun. 2024 Jul 24;15(1):6259. doi: 10.1038/s41467-024-50481-z. Nat Commun. 2024. PMID: 39048559 Free PMC article.
KRT32 is found to be predominantly localized in basal keratinocytes and exhibits an inhibitory effect on skin inflammation by antagonizing the NF-kappaB pathway. Mechanistically, KRT32 binds to NEMO, promoting excessive K48-linked polyubiquitination and NEMO degrada …
KRT32 is found to be predominantly localized in basal keratinocytes and exhibits an inhibitory effect on skin inflammation by antagonizing t …
Ocular genetics in the Japanese population.
Hotta Y, Torii K, Takayama M. Hotta Y, et al. Jpn J Ophthalmol. 2024 Sep;68(5):401-418. doi: 10.1007/s10384-024-01109-8. Epub 2024 Sep 14. Jpn J Ophthalmol. 2024. PMID: 39271608 Free PMC article. Review.
However, some genes have complex structures that are difficult to analyze, including the OPN1LW/OPN1MW gene cluster in blue cone monochromacy and the IKBKG/NEMO genes in incontinentia pigmenti. This review will also present two cases with uniparental disomy, a case …
However, some genes have complex structures that are difficult to analyze, including the OPN1LW/OPN1MW gene cluster in blue cone monochromac …
NEMO is essential for directing the kinases IKKalpha and ATM to the sites of DNA damage.
Alonso-Marañón J, Solé L, Álvarez-Villanueva D, Maqueda M, Lobo-Jarne T, Montoto Á, Yélamos J, Borràs E, Uraga L, Hooper C, Sabidó E, Miyamoto S, Bigas A, Espinosa L. Alonso-Marañón J, et al. Sci Signal. 2025 Mar 11;18(877):eadr0128. doi: 10.1126/scisignal.adr0128. Epub 2025 Mar 11. Sci Signal. 2025. PMID: 40067909 Free PMC article.
Recognition of damaged DNA by the IKKalpha-NEMO-ATM complex was facilitated by the interaction between NEMO and histones and depended on the ADP ribosylation of histones by the enzyme PARP1. NEMO-deficient cells showed increased activity of the kinase ATR, an …
Recognition of damaged DNA by the IKKalpha-NEMO-ATM complex was facilitated by the interaction between NEMO and histones and d …
Role of TOMM34 on NF-κB activation-related hyperinflammation in severely ill patients with COVID-19 and influenza.
Shi Q, Zhang P, Hu Q, Zhang T, Hou R, Yin S, Zou Y, Chen F, Jiao S, Si L, Zheng B, Chen Y, Zhan T, Liu Y, Zhu W, Qi N. Shi Q, et al. EBioMedicine. 2024 Oct;108:105343. doi: 10.1016/j.ebiom.2024.105343. Epub 2024 Sep 13. EBioMedicine. 2024. PMID: 39276680 Free PMC article.
Mechanistically, TOMM34 recruits TRAF6 to facilitate the K63-linked polyubiquitination of NEMO upon viral infection, thus promoting the downstream NF-kappaB activation. INTERPRETATION: In this study, viral induction of TOMM34 is positively correlated with the hyperinflamma …
Mechanistically, TOMM34 recruits TRAF6 to facilitate the K63-linked polyubiquitination of NEMO upon viral infection, thus promoting t …
Non-Skewed X-inactivation Results in NF-kappaB Essential Modulator (NEMO) delta-exon 5-autoinflammatory Syndrome (NEMO-NDAS) in a Female with Incontinentia Pigmenti.
Eigemann J, Janda A, Schuetz C, Lee-Kirsch MA, Schulz A, Hoenig M, Furlan I, Jacobsen EM, Zinngrebe J, Peters S, Drewes C, Siebert R, Rump EM, Führer M, Lorenz M, Pannicke U, Kölsch U, Debatin KM, von Bernuth H, Schwarz K, Felgentreff K. Eigemann J, et al. J Clin Immunol. 2024 Sep 12;45(1):1. doi: 10.1007/s10875-024-01799-2. J Clin Immunol. 2024. PMID: 39264518 Free PMC article.
NF-kappaB essential modulator (NEMO) delta-exon 5-autoinflammatory syndrome (NEMO-NDAS) is a systemic autoinflammatory disease caused by alternative splicing and increased proportion of NEMO-deltaex5. ...CONCLUSION: Non-skewed X-inactivation can lead to NE …
NF-kappaB essential modulator (NEMO) delta-exon 5-autoinflammatory syndrome (NEMO-NDAS) is a systemic autoinflammatory disease …
47 results