Amelia Morrone

Florence, Italy

Last Updated: 09/26/2026

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Found 104 publications

Generation of a human-induced pluripotent stem cell (hiPSC) line as a cellular model of Fabry disease from a patient carrying the p.A143T variant in the GLA gene (AOUMEYi005-A).

Generation of a human-induced pluripotent stem cell (hiPSC) line as a cellular model of Fabry disease from a patient carrying the p.A143T variant in the GLA gene (AOUMEYi005-A).

Journal: Stem cell research

Published: May 18, 2026

Generation of a human induced pluripotent stem cell line (hiPSC) from a patient with DLG4-related synaptopathy (AOUMEYi004-A) and a novel heterozygous de novo nonsense DLG4 variant c.2155A > T p.(Arg719*).

Generation of a human induced pluripotent stem cell line (hiPSC) from a patient with DLG4-related synaptopathy (AOUMEYi004-A) and a novel heterozygous de novo nonsense DLG4 variant c.2155A > T p.(Arg719*).

Journal: Stem cell research

Published: May 18, 2026

Multivalent C2-alkyl trihydroxypiperidine architectures modulate β-glucocerebrosidase activity.

Multivalent C2-alkyl trihydroxypiperidine architectures modulate β-glucocerebrosidase activity.

Journal: European journal of medicinal chemistry

Published: March 31, 2026

Over ten years of newborn screening for LSDs in Tuscany (Italy): Epidemiology, novel variants, and the pseudodeficiency burden.

Over ten years of newborn screening for LSDs in Tuscany (Italy): Epidemiology, novel variants, and the pseudodeficiency burden.

Journal: Molecular genetics and metabolism

Published: February 20, 2026

Generation of iPSC lines (UMILi032-A, UMILi033-A, UMILi034-A, UMILi035-A, UMILi036-A) from five Congenital Central Hypoventilation Syndrome patients carrying different poly-alanine expansion mutations in the PHOX2B gene.

Generation of iPSC lines (UMILi032-A, UMILi033-A, UMILi034-A, UMILi035-A, UMILi036-A) from five Congenital Central Hypoventilation Syndrome patients carrying different poly-alanine expansion mutations in the PHOX2B gene.

Journal: Stem cell research

Published: October 24, 2025

Selenoureido-N-alkyl-3,4,5-trihydroxypiperidines: probing their dual-target role in Gaucher disease.

Selenoureido-N-alkyl-3,4,5-trihydroxypiperidines: probing their dual-target role in Gaucher disease.

Journal: Bioorganic & medicinal chemistry

Published: July 31, 2025

Simultaneous Grafting of 3,4,5-Trihydroxypiperidine Iminosugars Onto Multivalent Scaffolds via Double Reductive Amination Provides New GCase Inhibitors.

Simultaneous Grafting of 3,4,5-Trihydroxypiperidine Iminosugars Onto Multivalent Scaffolds via Double Reductive Amination Provides New GCase Inhibitors.

Journal: Chemistry (Weinheim an der Bergstrasse, Germany)

Published: July 31, 2025

Generation of a cellular model for mucopolysaccharidosis type IVA (MPS IVA) (AOUMEYi003-A) from a patient carrying compound heterozygous mutations p.G116V and p.G290S in the GALNS gene.

Generation of a cellular model for mucopolysaccharidosis type IVA (MPS IVA) (AOUMEYi003-A) from a patient carrying compound heterozygous mutations p.G116V and p.G290S in the GALNS gene.

Journal: Stem cell research

Published: April 18, 2025

Exploring Multivalent Architectures for Binding and Stabilization of N-Acetylgalactosamine 6-Sulfatase.

Exploring Multivalent Architectures for Binding and Stabilization of N-Acetylgalactosamine 6-Sulfatase.

Journal: Molecules (Basel, Switzerland)

Published: March 31, 2025

Phosphomannomutase 2-congenital disorder of glycosylation: exploring the role of N-glycosylation on the endocrine axes.

Phosphomannomutase 2-congenital disorder of glycosylation: exploring the role of N-glycosylation on the endocrine axes.

Journal: Frontiers in endocrinology

Published: March 15, 2025

Evidence of α-Synuclein/Glucocerebrosidase Dual Targeting by Iminosugar Derivatives.

Evidence of α-Synuclein/Glucocerebrosidase Dual Targeting by Iminosugar Derivatives.

Journal: ACS chemical neuroscience

Published: March 13, 2025

Newborn Screening for Metachromatic Leukodystrophy in Tuscany: The Paradigm of a Successful Preventive Medicine Program.

Newborn Screening for Metachromatic Leukodystrophy in Tuscany: The Paradigm of a Successful Preventive Medicine Program.

Journal: International journal of neonatal screening

Published: March 11, 2025

Showing 1-12 of 104

Last Updated: 09/26/2026