Stephanie Simon

Université Paris Est Créteil, IMRB
Creteil, France

Last Updated: 09/26/2026

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Found 15 publications

Generation of two iPSC lines each carrying a stop codon mutation, c.366T > A (p.Y122X) and c.1657C > T (p.R553X), in the CFTR gene from the parental line PCIi033-A using CRISPR/Cas9.

Generation of two iPSC lines each carrying a stop codon mutation, c.366T > A (p.Y122X) and c.1657C > T (p.R553X), in the CFTR gene from the parental line PCIi033-A using CRISPR/Cas9.

Journal: Stem cell research

Published: March 18, 2026

Generation of two iPSC lines carrying two cystic fibrosis rare intronic mutations c.1585-1G>A and c.1680-886A>G in the CFTR gene of the parental line PCIi033-A using CRISPR/Cas tools.

Generation of two iPSC lines carrying two cystic fibrosis rare intronic mutations c.1585-1G>A and c.1680-886A>G in the CFTR gene of the parental line PCIi033-A using CRISPR/Cas tools.

Journal: Stem cell research

Published: March 18, 2026

CRISPR-Cas9 genome editing in the parental iPSC line PCIi033-A to introduce the homozygous mutation p.F508del (c.1521_1523del) in the CFTR gene.

CRISPR-Cas9 genome editing in the parental iPSC line PCIi033-A to introduce the homozygous mutation p.F508del (c.1521_1523del) in the CFTR gene.

Journal: Stem cell research

Published: October 07, 2025

Recent insights into the pathomechanisms of cataract development in diabetic patients.

Recent insights into the pathomechanisms of cataract development in diabetic patients.

Journal: Experimental eye research

Published: June 11, 2025

The role of the N-terminal p.R56Q mutation in modulating oligomerization and chaperone activity of human αB-crystallin in relation to cardiomyopathy.

The role of the N-terminal p.R56Q mutation in modulating oligomerization and chaperone activity of human αB-crystallin in relation to cardiomyopathy.

Journal: Biochimica et biophysica acta. Proteins and proteomics

Published: May 03, 2025

Peptide CIGB-552 has a synergistic effect on CFTR-F508del when combined with elexacaftor/tezacaftor/ivacaftor triple therapy for cystic fibrosis.

Peptide CIGB-552 has a synergistic effect on CFTR-F508del when combined with elexacaftor/tezacaftor/ivacaftor triple therapy for cystic fibrosis.

Journal: British journal of pharmacology

Published: December 30, 2023

Instability of Mature ABCA3 Protein: Toward a New Classification of ABCA3 Mutations?

Instability of Mature ABCA3 Protein: Toward a New Classification of ABCA3 Mutations?

Journal: American journal of respiratory cell and molecular biology

Published: November 01, 2022

Deciphering an isolated lung phenotype of NKX2-1 frameshift pathogenic variant.

Deciphering an isolated lung phenotype of NKX2-1 frameshift pathogenic variant.

Journal: Frontiers in pediatrics

Published: June 26, 2022

Dual Blockade of Misfolded Alpha-Sarcoglycan Degradation by Bortezomib and Givinostat Combination.

Dual Blockade of Misfolded Alpha-Sarcoglycan Degradation by Bortezomib and Givinostat Combination.

Journal: Frontiers in pharmacology

Published: January 17, 2022

Small Hsps as Therapeutic Targets of Cystic Fibrosis Transmembrane Conductance Regulator Protein.

Small Hsps as Therapeutic Targets of Cystic Fibrosis Transmembrane Conductance Regulator Protein.

Journal: International journal of molecular sciences

Published: March 27, 2021

Methylprednisolone pulse treatment improves ProSP-C trafficking in twins with SFTPC mutation: An isoform story?

Methylprednisolone pulse treatment improves ProSP-C trafficking in twins with SFTPC mutation: An isoform story?

Journal: British journal of clinical pharmacology

Published: June 30, 2020

Phosphorylation of the Chaperone-Like HspB5 Rescues Trafficking and Function of F508del-CFTR.

Phosphorylation of the Chaperone-Like HspB5 Rescues Trafficking and Function of F508del-CFTR.

Journal: International journal of molecular sciences

Published: June 18, 2020

Showing 1-12 of 15

Last Updated: 09/26/2026