List of works - Stephanie Cherqui

A mouse model suggests two mechanisms for thyroid alterations in infantile cystinosis: decreased thyroglobulin synthesis due to endoplasmic reticulum stress/unfolded protein response and impaired lysosomal processing.

scientific article published on 26 March 2015

A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis

scientific article

Brief reports: Lysosomal cross-correction by hematopoietic stem cell-derived macrophages via tunneling nanotubes

scientific article

CRISPR-Cas9 Gene Editing of Hematopoietic Stem Cells from Patients with Friedreich's Ataxia

scientific article published on 03 May 2020

Characterization of a putative founder mutation that accounts for the high incidence of cystinosis in Brittany.

scientific article

Cysteamine therapy: a treatment for cystinosis, not a cure ⬇️

scientific article published on January 1, 2012

Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter

scientific article

Cystinosin, the small GTPase Rab11, and the Rab7 effector RILP regulate intracellular trafficking of the chaperone-mediated autophagy receptor LAMP2A.

scientific article published on 2 May 2017

Expression patterns and function of chromatin protein HMGB2 during mesenchymal stem cell differentiation.

scientific article published on 2 September 2011

Gene Transfer to Mouse Kidney In Vivo

scientific article published on 01 January 2019

Glutathione precursors replenish decreased glutathione pool in cystinotic cell lines

scientific article

Hematopoietic Stem Cells Transplantation Can Normalize Thyroid Function in a Cystinosis Mouse Model

scientific article published on 26 January 2016

Hematopoietic stem cell gene therapy for brain metastases using myeloid cell-specific gene promoters

scientific article published on 10 September 2019

Hematopoietic stem cell gene therapy for the multisystemic lysosomal storage disorder cystinosis

scientific article published on 23 October 2012

Identification and characterisation of the murine homologue of the gene responsible for cystinosis, Ctns

scientific article

Impairment of chaperone-mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis

scientific article

Inflammasome activation by cystine crystals: implications for the pathogenesis of cystinosis

scientific article

Interaction between galectin-3 and cystinosin uncovers a pathogenic role of inflammation in kidney involvement of cystinosis.

scientific article published on 6 March 2019

Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis

scientific journal article

Is genetic rescue of cystinosis an achievable treatment goal?

scientific article

Isolation and Angiogenesis by Endothelial Progenitors in the Fetal Liver

scientific article published on 11 August 2005

Kidney preservation by bone marrow cell transplantation in hereditary nephropathy.

scientific article published on 19 January 2011

Kidney repair and stem cells: a complex and controversial process

scientific article published on 19 February 2011

Lentiviral gene delivery of vMIP-II to transplanted endothelial cells and endothelial progenitors is proangiogenic in vivo

scientific article

Macrophage polarization impacts tunneling nanotube formation and intercellular organelle trafficking

scientific article published on 10 October 2019

Mice Transgenic for a Human Porcine Endogenous Retrovirus Receptor Are Susceptible to Productive Viral Infection

Mice transgenic for a human porcine endogenous retrovirus receptor are susceptible to productive viral infection

scientific article

Molecular characterization of CTNS deletions in nephropathic cystinosis: development of a PCR-based detection assay.

scientific article

Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin

scientific article

Muscle wasting and adipose tissue browning in infantile nephropathic cystinosis

scientific article published on 7 September 2015

Nephropathic cystinosis: an international consensus document

scientific article

Potential use of stem cells as a therapy for cystinosis

scientific article published on 22 May 2018

Pseudotyping of porcine endogenous retrovirus by xenotropic murine leukemia virus in a pig islet xenotransplantation model

scientific article

Quantitative in vivo and ex vivo confocal microscopy analysis of corneal cystine crystals in the Ctns knockout mouse

scientific journal article

Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin

scientific article (publication date: December 1999)

Successful treatment of the murine model of cystinosis using bone marrow cell transplantation.

scientific article

The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives

scientific article published on 19 December 2016

The targeting of cystinosin to the lysosomal membrane requires a tyrosine-based signal and a novel sorting motif

scientific article

Time course of pathogenic and adaptation mechanisms in cystinotic mouse kidneys

scientific article

Transplantation of wild-type mouse hematopoietic stem and progenitor cells ameliorates deficits in a mouse model of Friedreich's ataxia.

scientific article published in October 2017

Treatment of Inherited Eye Defects by Systemic Hematopoietic Stem Cell Transplantation

scientific article

Tunneling Nanotubes and Gap Junctions-Their Role in Long-Range Intercellular Communication during Development, Health, and Disease Conditions

scientific article published on 17 October 2017

Upregulation of the Rab27a-dependent trafficking and secretory mechanisms improves lysosomal transport, alleviates endoplasmic reticulum stress, and reduces lysosome overload in cystinosis

scientific article

rAAV9 combined with renal vein injection is optimal for kidney-targeted gene delivery: conclusion of a comparative study

scientific article published on May 2014

List of works by Stephanie Cherqui

A mouse model suggests two mechanisms for thyroid alterations in infantile cystinosis: decreased thyroglobulin synthesis due to endoplasmic reticulum stress/unfolded protein response and impaired lysosomal processing.

A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis

Brief reports: Lysosomal cross-correction by hematopoietic stem cell-derived macrophages via tunneling nanotubes

CRISPR-Cas9 Gene Editing of Hematopoietic Stem Cells from Patients with Friedreich's Ataxia

Characterization of a putative founder mutation that accounts for the high incidence of cystinosis in Brittany.

Cysteamine therapy: a treatment for cystinosis, not a cure ⬇️

Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter

Cystinosin, the small GTPase Rab11, and the Rab7 effector RILP regulate intracellular trafficking of the chaperone-mediated autophagy receptor LAMP2A.

Expression patterns and function of chromatin protein HMGB2 during mesenchymal stem cell differentiation.

Gene Transfer to Mouse Kidney In Vivo

Glutathione precursors replenish decreased glutathione pool in cystinotic cell lines

Hematopoietic Stem Cells Transplantation Can Normalize Thyroid Function in a Cystinosis Mouse Model

Hematopoietic stem cell gene therapy for brain metastases using myeloid cell-specific gene promoters

Hematopoietic stem cell gene therapy for the multisystemic lysosomal storage disorder cystinosis

Identification and characterisation of the murine homologue of the gene responsible for cystinosis, Ctns

Impairment of chaperone-mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis

Inflammasome activation by cystine crystals: implications for the pathogenesis of cystinosis

Interaction between galectin-3 and cystinosin uncovers a pathogenic role of inflammation in kidney involvement of cystinosis.

Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis

Is genetic rescue of cystinosis an achievable treatment goal?

Isolation and Angiogenesis by Endothelial Progenitors in the Fetal Liver

Kidney preservation by bone marrow cell transplantation in hereditary nephropathy.

Kidney repair and stem cells: a complex and controversial process

Lentiviral gene delivery of vMIP-II to transplanted endothelial cells and endothelial progenitors is proangiogenic in vivo

Macrophage polarization impacts tunneling nanotube formation and intercellular organelle trafficking

Mice Transgenic for a Human Porcine Endogenous Retrovirus Receptor Are Susceptible to Productive Viral Infection

Mice transgenic for a human porcine endogenous retrovirus receptor are susceptible to productive viral infection

Molecular characterization of CTNS deletions in nephropathic cystinosis: development of a PCR-based detection assay.

Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin

Muscle wasting and adipose tissue browning in infantile nephropathic cystinosis

Nephropathic cystinosis: an international consensus document

Potential use of stem cells as a therapy for cystinosis

Pseudotyping of porcine endogenous retrovirus by xenotropic murine leukemia virus in a pig islet xenotransplantation model

Quantitative in vivo and ex vivo confocal microscopy analysis of corneal cystine crystals in the Ctns knockout mouse

Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin

Successful treatment of the murine model of cystinosis using bone marrow cell transplantation.

The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives

The targeting of cystinosin to the lysosomal membrane requires a tyrosine-based signal and a novel sorting motif

Time course of pathogenic and adaptation mechanisms in cystinotic mouse kidneys

Transplantation of wild-type mouse hematopoietic stem and progenitor cells ameliorates deficits in a mouse model of Friedreich's ataxia.

Treatment of Inherited Eye Defects by Systemic Hematopoietic Stem Cell Transplantation

Tunneling Nanotubes and Gap Junctions-Their Role in Long-Range Intercellular Communication during Development, Health, and Disease Conditions

Upregulation of the Rab27a-dependent trafficking and secretory mechanisms improves lysosomal transport, alleviates endoplasmic reticulum stress, and reduces lysosome overload in cystinosis

rAAV9 combined with renal vein injection is optimal for kidney-targeted gene delivery: conclusion of a comparative study