A5056795266- Autophagy in Disease and Therapy
- Lysosomal Storage Disorders Research
- Calcium signaling and nucleotide metabolism
- Cellular transport and secretion
- Pancreatic function and diabetes
- Endoplasmic Reticulum Stress and Disease
- Trypanosoma species research and implications
- Bone health and treatments
- Fibroblast Growth Factor Research
- Epigenetics and DNA Methylation
- Bone Metabolism and Diseases
- Lipid metabolism and biosynthesis
- Neonatal Respiratory Health Research
- Alzheimer's disease research and treatments
- Cancer-related gene regulation
- PI3K/AKT/mTOR signaling in cancer
- Connective tissue disorders research
- Alkaline Phosphatase Research Studies
- Advanced Glycation End Products research
- Toxoplasma gondii Research Studies
- Biomedical Research and Pathophysiology
- Galectins and Cancer Biology
- RNA modifications and cancer
- Cystic Fibrosis Research Advances
- Plant responses to water stress
Telethon Institute Of Genetics And Medicine
2015-2024
Federico II University Hospital
2013-2024
University of Naples Federico II
2018-2022
Telethon Foundation
2010-2020
Baylor College of Medicine
2011-2018
Neurological Research Institute
2011-2018
Dulbecco Telethon Institute
2014-2017
Texas Children's Hospital
2011-2016
John Cochran VA Medical Center
2014
Medical Genetics Center
2013
Starvation activates a transcriptional program controlling autophagosome formation, lysosome fusion, and substrate degradation.
Most lysosomal storage disorders (LSDs) are caused by deficiencies of hydrolases. While LSDs were among the first inherited diseases for which underlying biochemical defects identified, mechanisms from enzyme deficiency to cell death poorly understood. Here we show that impairs autophagic delivery bulk cytosolic contents lysosomes. By studying mouse models two associated with severe neurodegeneration, multiple sulfatase (MSD) and mucopolysaccharidosis type IIIA (MPSIIIA), observed an...
Autophagy is a fundamental catabolic process that plays central role in health and disease. An efficient autophagic relies on the cooperation of two distinct types organelles: autophagosome lysosome. We have identified gene network regulates biogenesis function both organelles. Our findings reveal an important transcription regulation starvation-induced autophagy, link lysosomal to autophagy.
Article17 December 2018Open Access Source DataTransparent process A selective ER-phagy exerts procollagen quality control via a Calnexin-FAM134B complex Alison Forrester Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy Search for more papers by this author Chiara De Leonibus Paolo Grumati Biochemistry II, Goethe University Frankfurt – Medical Faculty, Hospital, am Main, Germany Elisa Fasana Faculty Biomedical Sciences, Research in Biomedicine, Università della Svizzera...
Aging is associated with changes in circulating levels of various molecules, some which remain undefined. We find that concentrations taurine decline aging mice, monkeys, and humans. A reversal this through supplementation increased the health span (the period healthy living) life mice monkeys. Mechanistically, reduced cellular senescence, protected against telomerase deficiency, suppressed mitochondrial dysfunction, decreased DNA damage, attenuated inflammaging. In humans, lower correlated...
A transcriptional regulatory mechanism enables cellular adaptation to nutrient availability and supports cancer metabolism.
Direct cell reprogramming enables direct conversion of fibroblasts into functional neurons and oligodendrocytes using a minimal set cell-lineage-specific transcription factors. This approach is rapid simple, generating the types interest in one step. However, it remains unknown whether this technology can be applied to convert astrocytes, third neural lineage. Astrocytes play crucial roles neuronal homeostasis, their dysfunctions contribute origin progression multiple human diseases. Herein,...
Recent reports of a proatherogenic phenotype in mice with macrophage-specific autophagy deficiency have renewed interest the role autophagy-lysosomal system atherosclerosis. Lysosomes unique ability to process both exogenous material, including lipids and autophagy-derived cargo such as dysfunctional proteins/organelles. We aimed understand effects an atherogenic lipid environment on macrophage lysosomes evaluate novel ways modulate this system.Using variety complementary techniques, we show...
The cellular turnover of proteins and organelles requires cooperation between the autophagic lysosomal degradation pathways. A crucial step in this process is fusion autophagosome with lysosome. In our study we demonstrate that Lysosomal Storage Disorders (LSDs) accumulation undegraded substrates lysosomes, due to deficiency specific enzymes, impairs autophagosomes lysosomes. This, turn, leads a progressive poly-ubiquitinated protein aggregates dysfunctional mitochondria. These findings...
Bone resorption by osteoclasts requires a large number of lysosomes that release proteases in the lacuna. Whether lysosomal biogenesis is consequence action transcriptional regulators osteoclast differentiation or under control different and specific pathway remains unknown. We show here, through cell-based assays cell-specific gene deletion experiments mice, factor RANKL promotes once are differentiated selective activation TFEB, member MITF/TFE family transcription factors. This occurs...