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- | Preclinical, Journal: Cerebellar and hepatic alterations in ACBD5-deficient mice are associated with unexpected, distinct alterations in cellular lipid homeostasis. (Pubmed Central) - Jun 30, 2021
By contrast, ether lipid formation was perturbed in liver towards an accumulation of alkyldiacylglycerols. The alterations in several lipid classes suggest that ACBD5, in addition to its acyl-CoA binding function, might maintain peroxisome-ER contacts in order to contribute to the regulation of anabolic and catabolic cellular lipid pathways.
- | Journal: Organelle Interplay - Peroxisome Interactions in Health and Disease. (Pubmed Central) - May 25, 2021
Here we discuss the most recent findings on peroxisome-organelle interactions including peroxisome-ER interplay at membrane contacts sites, and functional interplay with mitochondria, lysosomes and lipid droplets in mammalian cells. We address tether proteins, metabolic cooperation and the impact of peroxisome interactions on human health and disease.
- [VIRTUAL] Identification of Novel and Rare Receptor Tyrosine Kinase Fusions in Thyroid Fine Needle Aspirates () - Jun 20, 2020 - Abstract #ENDOI2020ENDO-I_2295;
All fusions described here are either novel and not previously reported, rarely reported in one or two case studies, or not described in thyroid cancers. Additional NTRK, ALK, RET and BRAF fusions were found, all of which may be targeted with specific kinase inhibitors currently available.
- Identification of Novel and Rare Receptor Tyrosine Kinase Fusions in Thyroid Fine Needle Aspirates (Room 11) - Apr 1, 2020 - Abstract #ENDO2020ENDO_3594;
All fusions described here are either novel and not previously reported, rarely reported in one or two case studies, or not described in thyroid cancers. Additional NTRK, ALK, RET and BRAF fusions were found, all of which may be targeted with specific kinase inhibitors currently available.
- | Journal: Functional characterisation of peroxisomal β-oxidation disorders in fibroblasts using lipidomics. (Pubmed Central) - Dec 2, 2019
Remarkably, we found that ether phospholipids, including plasmalogens, were decreased. We defined specific phospholipid ratios reflecting the different enzyme defects, which can be used to discriminate the PED fibroblasts from healthy control cells.
- | Journal: Fluorescent tools to analyse peroxisome-ER interactions in mammalian cells. (Pubmed Central) - Jun 16, 2019
Using the proximity ligation assay we were able to measure changes in peroxisome-ER interactions whilst the split-fluorescence reporter was more limited and only allowed us to label ER-peroxisome contacts. We show that both techniques can be useful additions to the toolkit of methods to study peroxisome-ER associations and explore the relative merits of each.
- | Journal: Intracellular redistribution of neuronal peroxisomes in response to ACBD5 expression. (Pubmed Central) - May 29, 2019
Thus, we conclude, that the VAPB-ACBD5 facilitated peroxisome-ER interaction is not responsible for the observed organelle redistribution in neurons. Rather, we suggest that additional ACBD5-binding proteins in neurons may tether peroxisomes to contact sites at or near the plasma membrane of neurons.