A5064910587- Lysosomal Storage Disorders Research
- Calcium signaling and nucleotide metabolism
- Carbohydrate Chemistry and Synthesis
- Cellular transport and secretion
- Biochemical and Molecular Research
- Autophagy in Disease and Therapy
- Pharmacological Effects and Toxicity Studies
- Retinoids in leukemia and cellular processes
- Natural Antidiabetic Agents Studies
Telethon Institute Of Genetics And Medicine
2020-2023
Federico II University Hospital
2018-2021
Abstract Batten disease, one of the most devastating types neurodegenerative lysosomal storage disorders, is caused by mutations in CLN3 . Here, we show that a vesicular trafficking hub connecting Golgi and lysosome compartments. Proteomic analysis reveals interacts with several endo-lysosomal proteins, including cation-independent mannose 6 phosphate receptor (CI-M6PR), which coordinates targeting enzymes to lysosomes. depletion results mis-trafficking CI-M6PR, mis-sorting enzymes,...
Pompe disease is an inherited metabolic disorder due to the deficiency of lysosomal acid