Sandro Montefusco
Pozzuoli, Italy
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 26 publications
GMPPB-CDG Results in Lysosomal Dysfunction and Acid Alpha-Glucosidase Deficiency.
Journal: Journal of inherited metabolic disease
Published: September 12, 2025
Drug-Induced Reversible Lysosomal Changes Tracked in Live Cells by Holo-Tomographic Flow Cytometry.
Journal: ACS nano
Published: August 06, 2025
TRPML-1 Dysfunction and Renal Tubulopathy in Mucolipidosis Type IV.
Journal: Journal of the American Society of Nephrology : JASN
Published: July 25, 2024
TFEB controls syncytiotrophoblast formation and hormone production in placenta.
Journal: Cell death and differentiation
Published: May 27, 2024
Investigation on lysosomal accumulation by a quantitative analysis of 2D phase-maps in digital holography microscopy.
Journal: Cytometry. Part A : the journal of the International Society for Analytical Cytology
Published: November 10, 2023
Sestrin2 drives ER-phagy in response to protein misfolding.
Journal: Developmental cell
Published: October 06, 2023
TPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann-Pick type C1, and Batten disease.
Journal: EMBO molecular medicine
Published: November 03, 2021
Current methods to analyze lysosome morphology, positioning, motility and function.
Journal: Traffic (Copenhagen, Denmark)
Published: November 02, 2021
Drug Repurposing in Rare Diseases: An Integrative Study of Drug Screening and Transcriptomic Analysis in Nephropathic Cystinosis.
Journal: International journal of molecular sciences
Published: October 18, 2021
Fluoxetine ameliorates mucopolysaccharidosis type IIIA.
Journal: Molecular therapy : the journal of the American Society of Gene Therapy
Published: June 22, 2021
Human iPSC-Derived 2D and 3D Platforms for Rapidly Assessing Developmental, Functional, and Terminal Toxicities in Neural Cells.
Journal: International journal of molecular sciences
Published: January 04, 2021
Last Updated: 09/26/2026