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Differentiating the mTOR inhibitors everolimus and sirolimus in the treatment of tuberous sclerosis complex.
MacKeigan JP, Krueger DA. MacKeigan JP, et al. Neuro Oncol. 2015 Dec;17(12):1550-9. doi: 10.1093/neuonc/nov152. Epub 2015 Aug 19. Neuro Oncol. 2015. PMID: 26289591 Free PMC article. Review.
Everolimus is approved for subependymal giant cell astrocytomas and renal angiomyolipomas in patients with TSC. Sirolimus, though not approved for TSC, has undergone considerable investigation to treat various aspects of the disease. ...This review differentiates mT …
Everolimus is approved for subependymal giant cell astrocytomas and renal angiomyolipomas in patients with TSC. Sirolimus, though not …
The genomic landscape of tuberous sclerosis complex.
Martin KR, Zhou W, Bowman MJ, Shih J, Au KS, Dittenhafer-Reed KE, Sisson KA, Koeman J, Weisenberger DJ, Cottingham SL, DeRoos ST, Devinsky O, Winn ME, Cherniack AD, Shen H, Northrup H, Krueger DA, MacKeigan JP. Martin KR, et al. Among authors: mackeigan jp. Nat Commun. 2017 Jun 15;8:15816. doi: 10.1038/ncomms15816. Nat Commun. 2017. PMID: 28643795 Free PMC article.
Here, we present the genomic landscape of TSC hamartomas. We determine that TSC lesions contain a low somatic mutational burden relative to carcinomas, a subset feature large-scale chromosomal aberrations, and highly conserved molecular signatures for each type exis …
Here, we present the genomic landscape of TSC hamartomas. We determine that TSC lesions contain a low somatic mutational burde …
Spectrum of germline and somatic mitochondrial DNA variants in Tuberous Sclerosis Complex.
Giannikou K, Martin KR, Abdel-Azim AG, Pamir KJ, Hougard TR, Bagwe S, Tang Y, MacKeigan JP, Kwiatkowski DJ, Henske EP, Lam HC. Giannikou K, et al. Among authors: mackeigan jp. Front Genet. 2023 Jan 30;13:917993. doi: 10.3389/fgene.2022.917993. eCollection 2022. Front Genet. 2023. PMID: 36793390 Free PMC article.
Currently, there is limited knowledge regarding the role of the mitochondrial genome (mtDNA) in TSC pathogenesis. In this study, we aimed to determine the prevalence and spectrum of germline and somatic mtDNA variants in TSC and identify potential disease modifiers. …
Currently, there is limited knowledge regarding the role of the mitochondrial genome (mtDNA) in TSC pathogenesis. In this study, we a …
Chemical Biology Screening Identifies a Vulnerability to Checkpoint Kinase Inhibitors in TSC2-Deficient Renal Angiomyolipomas.
Vaughan RM, Kordich JJ, Chan CY, Sasi NK, Celano SL, Sisson KA, Van Baren M, Kortus MG, Aguiar DJ, Martin KR, MacKeigan JP. Vaughan RM, et al. Among authors: mackeigan jp. Front Oncol. 2022 Mar 10;12:852859. doi: 10.3389/fonc.2022.852859. eCollection 2022. Front Oncol. 2022. PMID: 35359406 Free PMC article.
The tuberous sclerosis complex (TSC) is a rare genetic syndrome and multisystem disease resulting in tumor formation in major organs. A molecular hallmark of TSC is a dysregulation of the mammalian target of rapamycin (mTOR) through loss-of-function mutations in eit …
The tuberous sclerosis complex (TSC) is a rare genetic syndrome and multisystem disease resulting in tumor formation in major organs. …
Loss of Tuberous Sclerosis Complex 2 confers inflammation via dysregulation of Nuclear factor kappa-light-chain-enhancer of activated B cells.
McPhail DK, Alzahrani MAM, Martin KR, Calver BL, Harwood AJ, MacKeigan JP, Davies DM, Tee AR. McPhail DK, et al. Among authors: mackeigan jp. Res Sq [Preprint]. 2024 Jul 15:rs.3.rs-4569999. doi: 10.21203/rs.3.rs-4569999/v1. Res Sq. 2024. PMID: 39070657 Free PMC article. Preprint.
Disease facets of TSC that are not restored with mTOR inhibitors might involve NF-kappaB. The study aimed to characterise NF-kappaB in the context of TSC. RESULTS: Enrichment of NF-kappaB-regulated genes was observed in TSC patient tumours, SEN/SEGAs, cortica …
Disease facets of TSC that are not restored with mTOR inhibitors might involve NF-kappaB. The study aimed to characterise NF-kappaB i …
Quantitative phosphorylation profiling of the ERK/p90 ribosomal S6 kinase-signaling cassette and its targets, the tuberous sclerosis tumor suppressors.
Ballif BA, Roux PP, Gerber SA, MacKeigan JP, Blenis J, Gygi SP. Ballif BA, et al. Among authors: mackeigan jp. Proc Natl Acad Sci U S A. 2005 Jan 18;102(3):667-72. doi: 10.1073/pnas.0409143102. Epub 2005 Jan 12. Proc Natl Acad Sci U S A. 2005. PMID: 15647351 Free PMC article.
Additionally, we monitored 14 previously uncharacterized and six known phosphorylation events after phorbol ester stimulation in the ERK/p90 ribosomal S6 kinase-signaling targets, the tuberous sclerosis complex (TSC) tumor suppressors TSC1 and TSC2. By using quantitative p …
Additionally, we monitored 14 previously uncharacterized and six known phosphorylation events after phorbol ester stimulation in the ERK/p90 …