Massimo Tatti

Rome, Italy

Last Updated: 09/26/2026

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Found 10 publications

Muscle ultrasonography in costello syndrome: unveiling new clinical insights of a complex muscular phenotype.

Muscle ultrasonography in costello syndrome: unveiling new clinical insights of a complex muscular phenotype.

Journal: Orphanet journal of rare diseases

Published: November 21, 2025

Whole Genome Sequencing Solves an Atypical Form of Bardet-Biedl Syndrome: Identification of Novel Pathogenic Variants of BBS9.

Whole Genome Sequencing Solves an Atypical Form of Bardet-Biedl Syndrome: Identification of Novel Pathogenic Variants of BBS9.

Journal: International journal of molecular sciences

Published: May 29, 2024

Metabolic labelling of a subpopulation of small extracellular vesicles using a fluorescent palmitic acid analogue.

Metabolic labelling of a subpopulation of small extracellular vesicles using a fluorescent palmitic acid analogue.

Journal: Journal of extracellular vesicles

Published: June 22, 2023

Biallelic Inactivating TUB Variants Cause Retinal Ciliopathy Impairing Biogenesis and the Structure of the Primary Cilium.

Biallelic Inactivating TUB Variants Cause Retinal Ciliopathy Impairing Biogenesis and the Structure of the Primary Cilium.

Journal: International journal of molecular sciences

Published: September 30, 2022

Hyperactive HRAS dysregulates energetic metabolism in fibroblasts from patients with Costello syndrome via enhanced production of reactive oxidizing species.

Hyperactive HRAS dysregulates energetic metabolism in fibroblasts from patients with Costello syndrome via enhanced production of reactive oxidizing species.

Journal: Human molecular genetics

Published: July 06, 2021

Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome.

Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome.

Journal: Clinical genetics

Published: April 15, 2020

BCM-95 and (2-hydroxypropyl)-β-cyclodextrin reverse autophagy dysfunction and deplete stored lipids in Sap C-deficient fibroblasts.

BCM-95 and (2-hydroxypropyl)-β-cyclodextrin reverse autophagy dysfunction and deplete stored lipids in Sap C-deficient fibroblasts.

Journal: Human molecular genetics

Published: April 01, 2015

Gaucher disease due to saposin C deficiency is an inherited lysosomal disease caused by rapidly degraded mutant proteins.

Gaucher disease due to saposin C deficiency is an inherited lysosomal disease caused by rapidly degraded mutant proteins.

Journal: Human molecular genetics

Published: June 14, 2014

Cathepsin-mediated regulation of autophagy in saposin C deficiency.

Cathepsin-mediated regulation of autophagy in saposin C deficiency.

Journal: Autophagy

Published: October 31, 2012

Reduced cathepsins B and D cause impaired autophagic degradation that can be almost completely restored by overexpression of these two proteases in Sap C-deficient fibroblasts.

Reduced cathepsins B and D cause impaired autophagic degradation that can be almost completely restored by overexpression of these two proteases in Sap C-deficient fibroblasts.

Journal: Human molecular genetics

Published: September 06, 2012

Showing 1-10 of 10

Last Updated: 09/26/2026