Calcium level and autophagy defect in GNE mutants of rare neuromuscular disorder
Sign Up to like & getrecommendations! Published in 2024 at "Cell Biology International"
DOI: 10.1002/cbin.12268
Abstract: Rare genetic disorders are low in prevalence and hence there is little or no attention paid to them in the mainstream medical industry. One of the ultra‐rare neuromuscular disorders, GNE myopathy is caused due to… read more here.
Keywords: mutant cells; gne mutant; gne; calcium ... See more keywords
Estrogen-independent Myc overexpression confers endocrine therapy resistance on breast cancer cells expressing ERαY537S and ERαD538G mutations.
Sign Up to like & getrecommendations! Published in 2019 at "Cancer letters"
DOI: 10.1016/j.canlet.2018.10.041
Abstract: Approximately 30% of metastatic breast cancers harbor estrogen receptor α (ERα) mutations associated with resistance to endocrine therapy and reduced survival. Consistent with their constitutive proliferation, T47D and MCF7 cells in which wild-type ERα is… read more here.
Keywords: endocrine therapy; breast; mutant cells; y537s d538g ... See more keywords
Lipidomics Characterization of Biosynthetic and Remodeling Pathways of Cardiolipins in Genetically and Nutritionally Manipulated Yeast Cells.
Sign Up to like & getrecommendations! Published in 2017 at "ACS chemical biology"
DOI: 10.1021/acschembio.6b00995
Abstract: Cardioipins (CLs) are unique tetra-acylated phospholipids of mitochondria and define the bioenergetics and regulatory functions of these organelles. An unresolved paradox is the high uniformity of CL molecular species (tetra-linoleoyl-CL) in the heart, liver, and… read more here.
Keywords: mutant cells; cld1 taz1; remodeling; yeast cells ... See more keywords
PI3K-targeting strategy using alpelisib to enhance the antitumor effect of paclitaxel in human gastric cancer
Sign Up to like & getrecommendations! Published in 2020 at "Scientific Reports"
DOI: 10.1038/s41598-020-68998-w
Abstract: PIK3CA mutations are frequently observed in various human cancers including gastric cancer (GC). This study was conducted to investigate the anti-tumor effects of alpelisib, a PI3K p110α-specific inhibitor, using preclinical models of GC. In addition,… read more here.
Keywords: combination; alpelisib paclitaxel; mutant cells; gastric cancer ... See more keywords
Iron overload is accompanied by mitochondrial and lysosomal dysfunction in WDR45 mutant cells
Sign Up to like & getrecommendations! Published in 2018 at "Brain"
DOI: 10.1093/brain/awy230
Abstract: Beta-propeller protein-associated neurodegeneration is a subtype of monogenic neurodegeneration with brain iron accumulation caused by de novo mutations in WDR45. The WDR45 protein functions as a beta-propeller scaffold and plays a putative role in autophagy… read more here.
Keywords: mutant cells; wdr45 mutant; iron overload; iron ... See more keywords
Human TSC2 mutant cells exhibit aberrations in early neurodevelopment accompanied by changes in the DNA Methylome
Sign Up to like & getrecommendations! Published in 2025 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddae199
Abstract: Abstract Tuberous Sclerosis Complex (TSC) is a debilitating developmental disorder characterized by a variety of clinical manifestations. While benign tumors in the heart, lungs, kidney, and brain are all hallmarks of the disease, the most… read more here.
Keywords: early neurodevelopment; mutant cells; tsc2 mutant; human tsc2 ... See more keywords
Abstract 282: Differential metabolic adaptations define responses of winner and loser oncogenic mutant cells in skin epidermis in vivo
Sign Up to like & getrecommendations! Published in 2023 at "Cancer Research"
DOI: 10.1158/1538-7445.am2023-282
Abstract: Skin epidermal stem cells detect, and correct aberrancies induced by oncogenic mutations. Different oncogenes invoke different mechanisms of epithelial tolerance: while wild-type cells outcompete β-catenin-Gain-of-Function (βcatGOF) mutant cells in the mouse skin epidermal stem cell… read more here.
Keywords: mutant cells; stem cells; cell; wild type ... See more keywords
Abstract 5815: Nucleus positioning and composition dictate the invasion performance of E-cadherin mutant cells
Sign Up to like & getrecommendations! Published in 2023 at "Cancer Research"
DOI: 10.1158/1538-7445.am2023-5815
Abstract: Introduction: Cell invasion is a critical step for tumor progression and dissemination into neighboring and distant tissues, which constitute the foremost cause of cancer mortality. Loss of the cell-cell adhesion molecule E-cadherin occurs in 70%… read more here.
Keywords: cadherin mutant; cell; mutant cells; cadherin ... See more keywords
Abstract 6441: Discovery of ARID1A loss as a patient biomarker for NXP800 - A developmental activator of the integrated stress response (ISR) and inhibitor of the HSF1 pathway in ovarian cancer
Sign Up to like & getrecommendations! Published in 2024 at "Cancer Research"
DOI: 10.1158/1538-7445.am2024-6441
Abstract: Background. HSF1 helps cancer cells cope with multiple stresses caused by oncogene activation. Methods. See details below. Results. We discovered the bisamide NXP800 as an inhibitor of HSF1-mediated transcription through phenotypic screening and med chem… read more here.
Keywords: cancer; mutant cells; atf4; inhibitor hsf1 ... See more keywords
A Small-Molecule Splicing Modulator Targets Spliceosome-Mutant Cells.
Sign Up to like & getrecommendations! Published in 2018 at "Cancer discovery"
DOI: 10.1158/2159-8290.cd-rw2018-038
Abstract: The small molecule H3B-8800 binds to and modulates the SF3b complex to kill spliceosome-mutant cells. read more here.
Keywords: splicing modulator; mutant cells; molecule splicing; small molecule ... See more keywords
Mutations in the RNA Splicing Factor SF3B1 Promote Transformation through MYC Stabilization
Sign Up to like & getrecommendations! Published in 2018 at "Blood"
DOI: 10.1182/blood-2018-99-110328
Abstract: Mutations in the RNA splicing factor SF3B1 are recurrent in CLL and myeloid neoplasms but their functional role in promoting tumorigenesis remain poorly understood. While SF3B1 mutations have been identified as promoting use of aberrant… read more here.
Keywords: sf3b1; mutant cells; figure; mutant sf3b1 ... See more keywords