Luisa Sturiale

Catania, 95126, Italy

Last Updated: 09/26/2026

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Found 61 publications

IgG Glycosylation Analysis in Patients with Ring14 Syndrome Unveils Novel Pathomechanisms and New Therapy Perspectives.

IgG Glycosylation Analysis in Patients with Ring14 Syndrome Unveils Novel Pathomechanisms and New Therapy Perspectives.

Journal: Biomolecules

Published: April 01, 2026

A splice-altering intronic variant in two multiplex families refines autosomal recessive COG4-related congenital disorder of glycosylation.

A splice-altering intronic variant in two multiplex families refines autosomal recessive COG4-related congenital disorder of glycosylation.

Journal: Molecular genetics and metabolism

Published: March 06, 2026

Lipooligosaccharide architecture in Acinetobacter modestus CM11G: a non-pathogenic strain.

Lipooligosaccharide architecture in Acinetobacter modestus CM11G: a non-pathogenic strain.

Journal: Carbohydrate research

Published: September 18, 2025

Mono-allelic p.R37H Dehydrodolichyl Diphosphate Synthase variants lead to protein glycosylation defects, aberrant lipid profiles and interneuron scarcity in a novel mouse model of progressive epileptic encephalopathy.

Mono-allelic p.R37H Dehydrodolichyl Diphosphate Synthase variants lead to protein glycosylation defects, aberrant lipid profiles and interneuron scarcity in a novel mouse model of progressive epileptic encephalopathy.

Journal: bioRxiv : the preprint server for biology

Published: September 02, 2025

Unveiling the structure of Delftia acidovorans Lipopolysaccharide: insights into O-antigen and lipid A.

Unveiling the structure of Delftia acidovorans Lipopolysaccharide: insights into O-antigen and lipid A.

Journal: Carbohydrate research

Published: April 11, 2025

MAN2A2-related glycosylation defects in autism and cognitive delay.

MAN2A2-related glycosylation defects in autism and cognitive delay.

Journal: Scientific reports

Published: February 12, 2025

Glycosylation Pathways Targeted by Deregulated miRNAs in Autism Spectrum Disorder.

Glycosylation Pathways Targeted by Deregulated miRNAs in Autism Spectrum Disorder.

Journal: International journal of molecular sciences

Published: November 26, 2024

Secondary deficiency of neuraminidase 1 contributes to CNS pathology in neurological mucopolysaccharidoses via hypersialylation of brain glycoproteins.

Secondary deficiency of neuraminidase 1 contributes to CNS pathology in neurological mucopolysaccharidoses via hypersialylation of brain glycoproteins.

Journal: bioRxiv : the preprint server for biology

Published: May 07, 2024

CSF N-Glycomics Using MALDI MS Techniques.

CSF N-Glycomics Using MALDI MS Techniques.

Journal: Methods in molecular biology (Clifton, N.J.)

Published: March 01, 2024

CSF N-Glycomics Using High-Throughput UPLC-ESI Techniques in Alzheimer's Disease.

CSF N-Glycomics Using High-Throughput UPLC-ESI Techniques in Alzheimer's Disease.

Journal: Methods in molecular biology (Clifton, N.J.)

Published: March 01, 2024

Neuraminidase 1 secondary deficiency contributes to CNS pathology in neurological mucopolysaccharidoses via brain protein hypersialylation.

Neuraminidase 1 secondary deficiency contributes to CNS pathology in neurological mucopolysaccharidoses via brain protein hypersialylation.

Journal: The Journal of clinical investigation

Published: January 26, 2024

N-acetylneuraminate pyruvate lyase controls sialylation of muscle glycoproteins essential for muscle regeneration and function.

N-acetylneuraminate pyruvate lyase controls sialylation of muscle glycoproteins essential for muscle regeneration and function.

Journal: Science advances

Published: June 30, 2023

Showing 1-12 of 61

Last Updated: 09/26/2026