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Page 1
Progressive Degenerative Myopathy and Myosteatosis in ASNSD1-Deficient Mice.
Vogel P, Ding ZM, Read R, DaCosta CM, Hansard M, Small DL, Ye GL, Hansen G, Brommage R, Powell DR. Vogel P, et al. Vet Pathol. 2020 Sep;57(5):723-735. doi: 10.1177/0300985820939251. Epub 2020 Jul 8. Vet Pathol. 2020. PMID: 32638637
Mice with an inactivating mutation in the gene encoding asparagine synthetase domain containing 1 (ASNSD1) develop a progressive degenerative myopathy that results in severe sarcopenia and myosteatosis. ASNSD1 is conserved across many species, and whole body gene ex …
Mice with an inactivating mutation in the gene encoding asparagine synthetase domain containing 1 (ASNSD1) develop a progressive dege …
Translation of non-canonical open reading frames as a cancer cell survival mechanism in childhood medulloblastoma.
Hofman DA, Ruiz-Orera J, Yannuzzi I, Murugesan R, Brown A, Clauser KR, Condurat AL, van Dinter JT, Engels SAG, Goodale A, van der Lugt J, Abid T, Wang L, Zhou KN, Vogelzang J, Ligon KL, Phoenix TN, Roth JA, Root DE, Hubner N, Golub TR, Bandopadhayay P, van Heesch S, Prensner JR. Hofman DA, et al. Mol Cell. 2024 Jan 18;84(2):261-276.e18. doi: 10.1016/j.molcel.2023.12.003. Epub 2024 Jan 3. Mol Cell. 2024. PMID: 38176414 Free article.
We determined that multiple lncRNA-ORFs and upstream ORFs (uORFs) exhibited selective functionality independent of main coding sequences. A microprotein encoded by one of these ORFs, ASNSD1-uORF or ASDURF, was upregulated, associated with MYC-family oncogenes, and promoted …
We determined that multiple lncRNA-ORFs and upstream ORFs (uORFs) exhibited selective functionality independent of main coding sequences. A …
Translation of non-canonical open reading frames as a cancer cell survival mechanism in childhood medulloblastoma.
Hofman DA, Ruiz-Orera J, Yannuzzi I, Murugesan R, Brown A, Clauser KR, Condurat AL, van Dinter JT, Engels SAG, Goodale A, van der Lugt J, Abid T, Wang L, Zhou KN, Vogelzang J, Ligon KL, Phoenix TN, Roth JA, Root DE, Hubner N, Golub TR, Bandopadhayay P, van Heesch S, Prensner JR. Hofman DA, et al. bioRxiv [Preprint]. 2023 May 6:2023.05.04.539399. doi: 10.1101/2023.05.04.539399. bioRxiv. 2023. PMID: 37205492 Free PMC article. Updated. Preprint.
We determined that multiple lncRNA-ORFs and upstream open reading frames (uORFs) exhibited selective functionality independent of the main coding sequence. One of these, ASNSD1-uORF or ASDURF, was upregulated, associated with the MYC family oncogenes, and was required for …
We determined that multiple lncRNA-ORFs and upstream open reading frames (uORFs) exhibited selective functionality independent of the main c …
A novel diabetic foot ulcer diagnostic model: identification and analysis of genes related to glutamine metabolism and immune infiltration.
Shi H, Yuan X, Yang X, Huang R, Fan W, Liu G. Shi H, et al. BMC Genomics. 2024 Jan 30;25(1):125. doi: 10.1186/s12864-024-10038-2. BMC Genomics. 2024. PMID: 38287255 Free PMC article.
From the GSE134431 dataset, we obtained 20 deGlnMRGs, including CTPS1, NAGS, SLC7A11, GGT1, GCLM, RIMKLA, ARG2, ASL, ASNS, ASNSD1, PPAT, GLS2, GLUD1, MECP2, ASS1, PRODH, CTPS2, ALDH5A1, DGLUCY, and SLC25A12. ...
From the GSE134431 dataset, we obtained 20 deGlnMRGs, including CTPS1, NAGS, SLC7A11, GGT1, GCLM, RIMKLA, ARG2, ASL, ASNS, ASNSD1, PP …
High-Throughput Screening of Mouse Gene Knockouts Identifies Established and Novel High Body Fat Phenotypes.
Powell DR, Revelli JP, Doree DD, DaCosta CM, Desai U, Shadoan MK, Rodriguez L, Mullens M, Yang QM, Ding ZM, Kirkpatrick LL, Vogel P, Zambrowicz B, Sands AT, Platt KA, Hansen GM, Brommage R. Powell DR, et al. Diabetes Metab Syndr Obes. 2021 Aug 28;14:3753-3785. doi: 10.2147/DMSO.S322083. eCollection 2021. Diabetes Metab Syndr Obes. 2021. PMID: 34483672 Free PMC article.
For the remaining 29 novel high body fat KO lines, Ksr2 and G2e3 are supported by data from additional independent KO cohorts, 6 (Asnsd1, Srpk2, Dpp8, Cxxc4, Tenm3 and Kiss1) are supported by data from additional internal cohorts, and the remaining 21 including Tle4, Ak5, …
For the remaining 29 novel high body fat KO lines, Ksr2 and G2e3 are supported by data from additional independent KO cohorts, 6 (Asnsd1 …
Potential of PAQosome as a therapeutic target for hepatic fibrosis.
Shi L, Feng G, Yang X, Zhang Y, Zhang Y, Cheng J, Lin S. Shi L, et al. J Gastroenterol Hepatol. 2024 Feb;39(2):381-391. doi: 10.1111/jgh.16427. Epub 2023 Nov 28. J Gastroenterol Hepatol. 2024. PMID: 38016755
ASDURF regulates the expression of asparagine synthetase domain-containing 1 (ASNSD1). PFDN4, PFDN5, URI1, and UXT regulate cell proliferation through the PI3K/AKT pathway, and thus regulate liver fibrosis. ...The area under the receiver operating characteristic curve of P …
ASDURF regulates the expression of asparagine synthetase domain-containing 1 (ASNSD1). PFDN4, PFDN5, URI1, and UXT regulate cell prol …
Upstream ORF-Encoded ASDURF Is a Novel Prefoldin-like Subunit of the PAQosome.
Cloutier P, Poitras C, Faubert D, Bouchard A, Blanchette M, Gauthier MS, Coulombe B. Cloutier P, et al. J Proteome Res. 2020 Jan 3;19(1):18-27. doi: 10.1021/acs.jproteome.9b00599. Epub 2019 Nov 25. J Proteome Res. 2020. PMID: 31738558
We show that ASDURF, a recently discovered upstream open reading frame (uORF) in the 5' UTR of ASNSD1 mRNA, encodes the 12th subunit of the PAQosome. ASDURF displays significant structural homology to beta-prefoldins and assembles with the five known subunits of the prefol …
We show that ASDURF, a recently discovered upstream open reading frame (uORF) in the 5' UTR of ASNSD1 mRNA, encodes the 12th subunit …
Rare Variant Analysis of Obesity-Associated Genes in Young Adults With Severe Obesity From a Consanguineous Population of Pakistan.
Saeed S, Janjua QM, Haseeb A, Khanam R, Durand E, Vaillant E, Ning L, Badreddine A, Berberian L, Boissel M, Amanzougarene S, Canouil M, Derhourhi M, Bonnefond A, Arslan M, Froguel P. Saeed S, et al. Diabetes. 2022 Apr 1;71(4):694-705. doi: 10.2337/db21-0373. Diabetes. 2022. PMID: 35061034
We also identified for the first time in the human, two homozygous stop-gain mutations in ASNSD1 and IFI16 genes. Inactivation of these genes in mouse models has been shown to result in obesity. ...
We also identified for the first time in the human, two homozygous stop-gain mutations in ASNSD1 and IFI16 genes. Inactivation of the …
Actions speak louder than ORFs: A non-canonical microprotein promotes medulloblastoma oncogenesis.
Delaidelli A, Oliveira de Santis J, Sorensen PH. Delaidelli A, et al. Mol Cell. 2024 Jan 18;84(2):188-190. doi: 10.1016/j.molcel.2023.12.027. Mol Cell. 2024. PMID: 38242097
In this issue of Molecular Cell, Hofman et al.(1) identify the translation of a non-canonical upstream open reading frame of the ASNSD1 gene into a microprotein that supports medulloblastoma growth....
In this issue of Molecular Cell, Hofman et al.(1) identify the translation of a non-canonical upstream open reading frame of the ASNSD1 …
Genetic variants modulate gene expression statin response in human lymphoblastoid cell lines.
Theusch E, Chen YI, Rotter JI, Krauss RM, Medina MW. Theusch E, et al. BMC Genomics. 2020 Aug 12;21(1):555. doi: 10.1186/s12864-020-06966-4. BMC Genomics. 2020. PMID: 32787775 Free PMC article.
RESULTS: From the deQTL meta-analysis of the two ancestral populations, we identified significant cis-deQTLs for 15 genes (TBC1D4, MDGA1, CHI3L2, OAS1, GATM, ASNSD1, GLUL, TDRD12, PPIP5K2, OAS3, SERPINB1, ANKDD1A, DTD1, CYFIP2, and GSDME), eight of which were significant i …
RESULTS: From the deQTL meta-analysis of the two ancestral populations, we identified significant cis-deQTLs for 15 genes (TBC1D4, MDGA1, CH …
14 results