A5000729885- Cellular transport and secretion
- Lipid Membrane Structure and Behavior
- Sphingolipid Metabolism and Signaling
- Epigenetics and DNA Methylation
- Carbohydrate Chemistry and Synthesis
- Pluripotent Stem Cells Research
- Genomics and Chromatin Dynamics
- Glycosylation and Glycoproteins Research
- Mitochondrial Function and Pathology
- Hemoglobinopathies and Related Disorders
- Ubiquitin and proteasome pathways
- Photoreceptor and optogenetics research
Institute of Genetics and Biophysics
2023
Institute of Protein Biochemistry
2013-2019
National Research Council
2013-2017
We report three novel deletions involving the Multispecies Conserved Sequences (MCS) R2, also known as Major Regulative Element (MRE), in patients showing α-thalassemia phenotype. The new rearrangements showed peculiar positions of breakpoints. 1) (αα)ES is a telomeric 110 kb deletion ending inside MCS-R3 element. 2) (αα)FG, 984 bp-long, ends 51 bp upstream to MCS-R2; both are associated with severe 3) (αα)CT, 5058 bp-long starts at position +93 MCS-R2 and only one mild To understand...
Abstract Sphingolipids are membrane lipids, which globally required for eukaryotic life. Sphingolipid composition varies among endomembranes with pre- and post-Golgi compartments being poor rich in sphingolipids, respectively. Thanks to this different sphingolipid content, membranes serve cellular functions. Nevertheless, how subcellular levels maintained spite of trafficking metabolic fluxes is only partially understood. Here we describe a homeostatic control circuit that controls at the...