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121 results

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Page 1
Nucleolin lactylation contributes to intrahepatic cholangiocarcinoma pathogenesis via RNA splicing regulation of MADD.
Yang L, Niu K, Wang J, Shen W, Jiang R, Liu L, Song W, Wang X, Zhang X, Zhang R, Wei D, Fan M, Jia L, Tao K. Yang L, et al. J Hepatol. 2024 Oct;81(4):651-666. doi: 10.1016/j.jhep.2024.04.010. Epub 2024 Apr 27. J Hepatol. 2024. PMID: 38679071 Free article.
Mechanistically, lactylated NCL bound to the primary transcript of MAP kinase-activating death domain protein (MADD) and led to efficient translation of MADD by circumventing alternative splicing that generates a premature termination codon. ...CONCLUSION: NCL is la …
Mechanistically, lactylated NCL bound to the primary transcript of MAP kinase-activating death domain protein (MADD) and led to effic …
Expanding the genetic heterogeneity of intellectual disability.
Anazi S, Maddirevula S, Salpietro V, Asi YT, Alsahli S, Alhashem A, Shamseldin HE, AlZahrani F, Patel N, Ibrahim N, Abdulwahab FM, Hashem M, Alhashmi N, Al Murshedi F, Al Kindy A, Alshaer A, Rumayyan A, Al Tala S, Kurdi W, Alsaman A, Alasmari A, Banu S, Sultan T, Saleh MM, Alkuraya H, Salih MA, Aldhalaan H, Ben-Omran T, Al Musafri F, Ali R, Suleiman J, Tabarki B, El-Hattab AW, Bupp C, Alfadhel M, Al Tassan N, Monies D, Arold ST, Abouelhoda M, Lashley T, Houlden H, Faqeih E, Alkuraya FS. Anazi S, et al. Hum Genet. 2017 Nov;136(11-12):1419-1429. doi: 10.1007/s00439-017-1843-2. Epub 2017 Sep 22. Hum Genet. 2017. PMID: 28940097 Free article.
Furthermore, we describe novel variants in 14 genes that we propose as novel candidates (ANKHD1, ASTN2, ATP13A1, FMO4, MADD, MFSD11, NCKAP1, NFASC, PCDHGA10, PPP1R21, SLC12A2, SLK, STK32C and ZFAT). We highlight MADD and PCDHGA10 as particularly compelling candidate …
Furthermore, we describe novel variants in 14 genes that we propose as novel candidates (ANKHD1, ASTN2, ATP13A1, FMO4, MADD, MFSD11, …
Upregulation of exosome secretion from tumor-associated macrophages plays a key role in the suppression of anti-tumor immunity.
Zhong W, Lu Y, Han X, Yang J, Qin Z, Zhang W, Yu Z, Wu B, Liu S, Xu W, Zheng C, Schuchter LM, Karakousis GC, Mitchell TC, Amaravadi R, Flowers AJ, Gimotty PA, Xiao M, Mills G, Herlyn M, Dong H, Mitchell MJ, Kim J, Xu X, Guo W. Zhong W, et al. Cell Rep. 2023 Oct 31;42(10):113224. doi: 10.1016/j.celrep.2023.113224. Epub 2023 Oct 8. Cell Rep. 2023. PMID: 37805922 Free PMC article.
Mechanistically, increased exosome secretion is driven by MADD, which is phosphorylated by Akt upon TAM induction and activates Rab27a. TAM exosomes carry high levels of programmed death-ligand 1 (PD-L1) and potently suppress the proliferation and function of CD8(+) T cell …
Mechanistically, increased exosome secretion is driven by MADD, which is phosphorylated by Akt upon TAM induction and activates Rab27 …
Disorders of flavin adenine dinucleotide metabolism: MADD and related deficiencies.
Mereis M, Wanders RJA, Schoonen M, Dercksen M, Smuts I, van der Westhuizen FH. Mereis M, et al. Int J Biochem Cell Biol. 2021 Mar;132:105899. doi: 10.1016/j.biocel.2020.105899. Epub 2020 Dec 3. Int J Biochem Cell Biol. 2021. PMID: 33279678 Review.
Over the past decade, an increasing body of evidence has further coupled mutations in FAD metabolism (including intercellular riboflavin transport, FAD biosynthesis and FAD transport) to MADD-like phenotypes. In this review we provide a detailed description of the overarch …
Over the past decade, an increasing body of evidence has further coupled mutations in FAD metabolism (including intercellular riboflavin tra …
Electron transfer flavoprotein and its role in mitochondrial energy metabolism in health and disease.
Henriques BJ, Katrine Jentoft Olsen R, Gomes CM, Bross P. Henriques BJ, et al. Gene. 2021 Apr 15;776:145407. doi: 10.1016/j.gene.2021.145407. Epub 2021 Jan 13. Gene. 2021. PMID: 33450351 Free PMC article. Review.
Human ETF is nuclear encoded by two separate genes, ETFA and ETFB, respectively. After translation, the two subunits are imported to the mitochondrial matrix space and assemble into a heterodimer containing one FAD and one AMP as cofactors. ...ETF recognizes its dehydrogen …
Human ETF is nuclear encoded by two separate genes, ETFA and ETFB, respectively. After translation, the two subunits are imported to …
Glaucoma Heritability: Molecular Mechanisms of Disease.
Zukerman R, Harris A, Oddone F, Siesky B, Verticchio Vercellin A, Ciulla TA. Zukerman R, et al. Genes (Basel). 2021 Jul 27;12(8):1135. doi: 10.3390/genes12081135. Genes (Basel). 2021. PMID: 34440309 Free PMC article. Review.
Several genes have been suggested to have molecular mechanisms contributing to alterations in key endophenotypes such as IOP (LMX1B, MADD, NR1H3, and SEPT9), and VCDR (ABCA1, ELN, ASAP1, and ATOH7). Still, genetic studies about glaucoma and its molecular mechanisms are lim …
Several genes have been suggested to have molecular mechanisms contributing to alterations in key endophenotypes such as IOP (LMX1B, MADD …
ATP5B and ETFB metabolic markers in children with congenital hydronephrosis.
Zhao Q, Yang Y, Wang C, Hou Y, Chen H. Zhao Q, et al. Mol Med Rep. 2016 Dec;14(6):5111-5115. doi: 10.3892/mmr.2016.5914. Epub 2016 Nov 1. Mol Med Rep. 2016. PMID: 27840937 Free PMC article.
Disorders of mitochondrial energy metabolism may be a primary factor underlying tubular cell apoptosis in hydronephrosis. The beta-F1-ATPase (ATP5B) and electron transfer flavoprotein beta subunit (ETFB) metabolic markers are involved in …
Disorders of mitochondrial energy metabolism may be a primary factor underlying tubular cell apoptosis in hydronephrosis. The beta-F1-ATPase …
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.
Coignard J, Lush M, Beesley J, O'Mara TA, Dennis J, Tyrer JP, Barnes DR, McGuffog L, Leslie G, Bolla MK, Adank MA, Agata S, Ahearn T, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Arnold N, Aronson KJ, Arun BK, Augustinsson A, Azzollini J, Barrowdale D, Baynes C, Becher H, Bermisheva M, Bernstein L, Białkowska K, Blomqvist C, Bojesen SE, Bonanni B, Borg A, Brauch H, Brenner H, Burwinkel B, Buys SS, Caldés T, Caligo MA, Campa D, Carter BD, Castelao JE, Chang-Claude J, Chanock SJ, Chung WK, Claes KBM, Clarke CL; GEMO Study Collaborators; EMBRACE Collaborators; Collée JM, Conroy DM, Czene K, Daly MB, Devilee P, Diez O, Ding YC, Domchek SM, Dörk T, Dos-Santos-Silva I, Dunning AM, Dwek M, Eccles DM, Eliassen AH, Engel C, Eriksson M, Evans DG, Fasching PA, Flyger H, Fostira F, Friedman E, Fritschi L, Frost D, Gago-Dominguez M, Gapstur SM, Garber J, Garcia-Barberan V, García-Closas M, García-Sáenz JA, Gaudet MM, Gayther SA, Gehrig A, Georgoulias V, Giles GG, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Greene MH, Guénel P, Haeberle L, Hahnen E, Haiman CA, Håkansson N, Hall P, Hamann U, Harrington PA, Hart SN, He W, Hogervorst FBL, Hollestelle A, Hopper JL, Horcasitas DJ, Hu… See abstract for full author list ➔ Coignard J, et al. Nat Commun. 2021 Feb 17;12(1):1078. doi: 10.1038/s41467-020-20496-3. Nat Commun. 2021. PMID: 33597508 Free PMC article.
They include rs60882887 at 11p11.2 where MADD, SP11 and EIF1, genes previously implicated in BC biology, are predicted as potential targets. ...
They include rs60882887 at 11p11.2 where MADD, SP11 and EIF1, genes previously implicated in BC biology, are predicted as potential t …
MADD Expression in Lung Adenocarcinoma and its Impact on Proliferation and Apoptosis of Lung Adenocarcinoma Cells.
Ye B, Zhong F, Yu G, Lou H, Hu J. Ye B, et al. Comb Chem High Throughput Screen. 2019;22(3):207-215. doi: 10.2174/1386207322666190404151437. Comb Chem High Throughput Screen. 2019. PMID: 30947659
MADD can be expressed in lung adenocarcinoma SPC-A-1 cells. High MADD expression can inhibit SPC-A-1 cell apoptosis and enhance SPC-A-1 cell proliferative activity, while silencing MADD expression can promote apoptosis and reduce SPC-A-1 cell proliferation. C …
MADD can be expressed in lung adenocarcinoma SPC-A-1 cells. High MADD expression can inhibit SPC-A-1 cell apoptosis and enhanc …
Clinical, pathological and genetic features and follow-up of 110 patients with late-onset MADD: a single-center retrospective study.
Wen B, Tang S, Lv X, Li D, Xu J, Olsen RKJ, Zhao Y, Li W, Wang T, Shao K, Zhao D, Yan C. Wen B, et al. Hum Mol Genet. 2022 Mar 31;31(7):1115-1129. doi: 10.1093/hmg/ddab308. Hum Mol Genet. 2022. PMID: 34718578
To observe a long-term prognosis in late-onset multiple acyl-coenzyme-A dehydrogenation deficiency (MADD) patients and to determine whether riboflavin should be administrated in the long-term and high-dosage manner, we studied the clinical, pathological and genetic feature …
To observe a long-term prognosis in late-onset multiple acyl-coenzyme-A dehydrogenation deficiency (MADD) patients and to determine w …
121 results