A5077487765- Autophagy in Disease and Therapy
- Lysosomal Storage Disorders Research
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Calcium signaling and nucleotide metabolism
- Cellular transport and secretion
- melanin and skin pigmentation
- Pancreatic function and diabetes
- Trypanosoma species research and implications
- Genetics and Neurodevelopmental Disorders
- Retinal Development and Disorders
- RNA modifications and cancer
- Hypothalamic control of reproductive hormones
- Epigenetics and DNA Methylation
- RNA regulation and disease
- Endoplasmic Reticulum Stress and Disease
- Genomics and Chromatin Dynamics
- Ubiquitin and proteasome pathways
- Biochemical Analysis and Sensing Techniques
- RNA Research and Splicing
- RNA and protein synthesis mechanisms
- Cell Adhesion Molecules Research
- Congenital heart defects research
- Animal Genetics and Reproduction
- CRISPR and Genetic Engineering
- Photonic and Optical Devices
Federico II University Hospital
2016-2025
Telethon Institute Of Genetics And Medicine
2016-2025
Baylor College of Medicine
2016-2025
Neurological Research Institute
2016-2025
Texas Children's Hospital
2015-2024
Politecnico di Milano
2016-2024
University of Insubria
2024
Casma Therapeutics (United States)
2024
Ospedale di Circolo e Fondazione Macchi
2024
University of Naples Federico II
2005-2023
In 2008 we published the first set of guidelines for standardizing research in autophagy. Since then, on this topic has continued to accelerate, and many new scientists have entered field. Our knowledge base relevant technologies also been expanding. Accordingly, it is important update these monitoring autophagy different organisms. Various reviews described range assays that used purpose. Nevertheless, there continues be confusion regarding acceptable methods measure autophagy, especially...
Starvation activates a transcriptional program controlling autophagosome formation, lysosome fusion, and substrate degradation.
Master Controller Cellular organelles allow the localized regulation of specialized processes. Under certain conditions, such as increased growth, may be required to alter their function. Coordinated gene networks for mitochondrial and endoplasmic reticulum function has been observed. Now, Sardiello et al. (p. 473 ; published online 25 June) have discovered a network regulating lysosome, major organelle involved in degradation internalized macromolecules. Many lysosomal genes were regulated...
In metazoans, lysosomes are the center for degradation of macromolecules and play a key role in variety cellular processes, such as autophagy, exocytosis membrane repair. Defects lysosomal pathways associated with storage disorders several late onset neurodegenerative diseases. We recently discovered CLEAR (Coordinated Lysosomal Expression Regulation) gene network its master transcription factor EB (TFEB), which regulates biogenesis function. Here, we used combination genomic approaches,...
Lysosomes are cellular organelles primarily involved in degradation and recycling processes. During lysosomal exocytosis, a Ca2+-regulated process, lysosomes docked to the cell surface fuse with plasma membrane (PM), emptying their content outside cell. This process has an important role secretion PM repair. Here we show that transcription factor EB (TFEB) regulates exocytosis. TFEB increases pool of proximity promotes fusion by raising intracellular Ca2+ levels through activation channel...
The manuscript describes the "digital transcriptome atlas" of developing mouse embryo, a powerful resource to determine co-expression genes, identify cell populations and lineages functional associations between genes relevant development disease.
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...