Paolo Scudieri

Genoa, Italy

Last Updated: 09/26/2026

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Found 59 publications

Steroid-Resistant Idiopathic Nephrotic Syndrome Reveals a Distinct Maladaptive Molecular State.

Steroid-Resistant Idiopathic Nephrotic Syndrome Reveals a Distinct Maladaptive Molecular State.

Journal: Kidney international reports

Published: April 29, 2026

IgM Hyposialylation Modulates Podocyte Vulnerability in Patients With Idiopathic Nephrotic Syndrome.

IgM Hyposialylation Modulates Podocyte Vulnerability in Patients With Idiopathic Nephrotic Syndrome.

Journal: Kidney international reports

Published: January 19, 2026

Potential Link Between a Disruptive CAPN6 Variant and Neurodevelopmental Disorders.

Potential Link Between a Disruptive CAPN6 Variant and Neurodevelopmental Disorders.

Journal: International journal of molecular sciences

Published: December 22, 2025

Alternative splicing regulates PACC1 function and promotes acidosis-induced cytotoxicity.

Alternative splicing regulates PACC1 function and promotes acidosis-induced cytotoxicity.

Journal: Frontiers in cell and developmental biology

Published: November 25, 2025

Modeling Mowat-Wilson syndrome with patient iPSCs reveals transcriptional and phenotypic defects in neural progenitors.

Modeling Mowat-Wilson syndrome with patient iPSCs reveals transcriptional and phenotypic defects in neural progenitors.

Journal: Neurobiology of disease

Published: September 08, 2025

CACNA1A loss-of-function affects neurogenesis in human iPSC-derived neural models.

CACNA1A loss-of-function affects neurogenesis in human iPSC-derived neural models.

Journal: Cellular and molecular life sciences : CMLS

Published: October 03, 2024

Generation of two iPSC lines from Mowat-Wilson syndrome patients carrying heterozygous ZEB2 mutations.

Generation of two iPSC lines from Mowat-Wilson syndrome patients carrying heterozygous ZEB2 mutations.

Journal: Stem cell research

Published: January 16, 2024

Generation of an induced pluripotent stem cell line (IGGi002A) from nasal cells of a cystic fibrosis patient homozygous for the G542X-CFTR mutation.

Generation of an induced pluripotent stem cell line (IGGi002A) from nasal cells of a cystic fibrosis patient homozygous for the G542X-CFTR mutation.

Journal: Stem cell research

Published: September 01, 2023

De novo variants in DENND5B cause a neurodevelopmental disorder.

De novo variants in DENND5B cause a neurodevelopmental disorder.

Journal: American journal of human genetics

Published: August 31, 2023

ATP12A Proton Pump as an Emerging Therapeutic Target in Cystic Fibrosis and Other Respiratory Diseases.

ATP12A Proton Pump as an Emerging Therapeutic Target in Cystic Fibrosis and Other Respiratory Diseases.

Journal: Biomolecules

Published: August 30, 2023

Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders.

Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders.

Journal: Frontiers in molecular neuroscience

Published: July 27, 2023

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.

Journal: medRxiv : the preprint server for health sciences

Published: March 03, 2023

Showing 1-12 of 59

Last Updated: 09/26/2026