Leonardo Gatticchi
Perugia, Italy
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 27 publications
Normal urinary oxalate excretion in 4-hydroxy-2-oxo-glutarate aldolase 1 (HOGA1) deficient mice with AGT expression in peroxisomes and not in mitochondria.
Journal: Biochimica et biophysica acta. Molecular basis of disease
Published: April 23, 2025
Functional analysis of amino acid substitutions within human AGT1 in a cell-based platform to support the diagnosis of primary hyperoxaluria type 1.
Journal: The Journal of biological chemistry
Published: April 14, 2025
Kidney Fibrosis and Oxidative Stress: From Molecular Pathways to New Pharmacological Opportunities.
Journal: Biomolecules
Published: November 15, 2023
Biochemical and cellular effects of a novel missense mutation of the AGXT gene associated with Primary Hyperoxaluria Type 1.
Journal: Biochemical and biophysical research communications
Published: December 30, 2022
Aryl Hydrocarbon Receptor Agonism Antagonizes the Hypoxia-driven Inflammation in Cystic Fibrosis.
Journal: American journal of respiratory cell and molecular biology
Published: October 17, 2022
Cerebrospinal fluid lipoproteins inhibit α-synuclein aggregation by interacting with oligomeric species in seed amplification assays.
Journal: Molecular neurodegeneration
Published: August 26, 2022
Role of misfolding in rare enzymatic deficits and use of pharmacological chaperones as therapeutic approach.
Journal: Frontiers in bioscience (Landmark edition)
Published: August 28, 2021
Seed amplification assays for diagnosing synucleinopathies: the issue of influencing factors.
Journal: Frontiers in bioscience (Landmark edition)
Published: August 06, 2021
Tm7sf2 Disruption Alters Radial Gene Positioning in Mouse Liver Leading to Metabolic Defects and Diabetes Characteristics.
Journal: Frontiers in cell and developmental biology
Published: August 07, 2020
Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters.
Journal: Molecular genetics & genomic medicine
Published: May 18, 2020
Last Updated: 09/26/2026