V. Kalatzis

发表

Corrective GUSB transfer to the canine mucopolysaccharidosis VII brain.

C. Vite, K. Mazouni, Y. Chérel, 2014, Molecular therapy : the journal of the American Society of Gene Therapy.

C. Antignac, V. Kalatzis, 2009 .

Renal phenotype of the cystinosis mouse model is dependent upon genetic background.

C. Antignac, M. Gubler, O. Devuyst, 2010, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Zika virus induces strong inflammatory responses and impairs homeostasis and function of the human retinal pigment epithelium

S. Salinas, P. Van de Perre, Y. Simonin, 2018, EBioMedicine.

Molecular Therapy for Choroideremia: Pre-clinical and Clinical Progress to Date

A. Roux, I. Meunier, V. Kalatzis, 2021, Molecular Diagnosis & Therapy.

Pathogenicity of a novel missense variant associated with choroideremia and its impact on gene replacement therapy

A. Roux, C. Hamel, V. Kalatzis, 2017, Human molecular genetics.

Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish model.

L. da Cruz, P. Coffey, A. Webster, 2016, Human molecular genetics.

Cultured Cells from the Human Oocyte Cumulus Niche Are Efficient Feeders to Propagate Pluripotent Stem Cells.

S. Assou, S. Hamamah, O. Aït-Ahmed, 2015, Stem cells and development.

Choroideremia: towards a therapy.

I. MacDonald, C. Hamel, V. Kalatzis, 2013, American journal of ophthalmology.

Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients

J. Sahel, P. Gastaud, C. Creuzot-Garcher, 2018, Scientific Reports.

A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene.

E. Haan, J. Weissenbach, D. Paslier, 1994, Human molecular genetics.

Corrective GUSB transfer to the canine mucopolysaccharidosis VII cornea using a helper-dependent canine adenovirus vector.

F. Malecaze, M. Haskins, E. Kremer, 2014, Journal of controlled release : official journal of the Controlled Release Society.

A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family

J. Weissenbach, M. Bitner-Glindzicz, R. Heilig, 1997, Nature Genetics.

Clinical Evaluation and Cone Alterations in Choroideremia.

A. Roux, Marie-Céline Lorenzini, C. Hamel, 2016, Ophthalmology.

New aspects of the pathogenesis of cystinosis

C. Antignac, V. Kalatzis, 2003, Pediatric Nephrology.

A Novel Chromosomal Translocation Identified due to Complex Genetic Instability in iPSC Generated for Choroideremia

C. Ayuso, J. Puechberty, C. Hamel, 2019, Cells.

Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses

M. Koenig, A. Roux, C. Hamel, 2018, Human mutation.

Retinoic acid delays initial photoreceptor differentiation and results in a highly structured mature retinal organoid

Michalitsa Diakatou, I. Meunier, O. Goureau, 2022, Stem Cell Research & Therapy.

Lysosomal and network alterations in human mucopolysaccharidosis type VII iPSC-derived neurons

A. Consiglio, P. Lory, A. Cuervo, 2018, Scientific Reports.

The gene for the human IgA Fc receptor maps to 19q13.4

G. Sutherland, D. Callen, C. Maliszewski, 1992, Human Genetics.

Cystinosis: from gene to disease.

C. Antignac, V. Kalatzis, 2002, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Cystinosin, the protein defective in cystinosis, is a H+‐driven lysosomal cystine transporter

C. Antignac, S. Cherqui, B. Gasnier, 2001, The EMBO journal.

Eya1 expression in the developing ear and kidney: Towards the understanding of the pathogenesis of branchio‐oto‐renal (BOR) syndrome

C. Petit, A. El-Amraoui, V. Kalatzis, 1998, Developmental dynamics : an official publication of the American Association of Anatomists.

Generation of a human iPSC line, INMi004-A, with a point mutation in CRX associated with autosomal dominant Leber congenital amaurosis.

C. Hamel, I. Meunier, G. Manes, 2019, Stem cell research.

Generation of a human iPSC line, INMi003-A, with a missense mutation in CRX associated with autosomal dominant cone-rod dystrophy.

Michalitsa Diakatou, C. Hamel, I. Meunier, 2019, Stem cell research.

Novel roles for voltage‐gated T‐type Ca2+ and ClC‐2 channels in phagocytosis and angiogenic factor balance identified in human iPSC‐derived RPE

M. L. DiFrancesco, I. Meunier, V. Kalatzis, 2021, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

SPACR Encoded by IMPG1 Is Essential for Photoreceptor Survival by Interplaying between the Interphotoreceptor Matrix and the Retinal Pigment Epithelium

P. Brabet, E. Sarzi, I. Meunier, 2022, Genes.

Intralysosomal Cystine Accumulation in Mice Lacking Cystinosin, the Protein Defective in Cystinosis

C. Antignac, M. Gubler, G. Hamard, 2002, Molecular and Cellular Biology.

The fundamental and medical impacts of recent progress in research on hereditary hearing loss.

C. Petit, V. Kalatzis, V Kalatzis, 1998, Human molecular genetics.

Corneal Transduction by Intra-Stromal Injection of AAV Vectors In Vivo in the Mouse and Ex Vivo in Human Explants

F. Malecaze, E. Kremer, Sandy Ibanes, 2012, PloS one.

The Ocular Anomalies in a Cystinosis Animal Model Mimic Disease Pathogenesis

C. Antignac, F. Malecaze, E. Kremer, 2007, Pediatric Research.

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

C. Antignac, S. Cherqui, B. Gasnier, 2004, Human molecular genetics.

Identification and Characterisation of the Murine Homologue of the Gene Responsible for Cystinosis, Ctns

C. Antignac, S. Cherqui, L. Forestier, 2000, BMC Genomics.

Cystine accumulation in the CNS results in severe age-related memory deficits

C. Antignac, E. Kremer, T. Maurice, 2009, Neurobiology of Aging.

The Cell Adhesion Molecule “CAR” and Sialic Acid on Human Erythrocytes Influence Adenovirus In Vivo Biodistribution

O. Billet, S. Cusack, G. Schoehn, 2009, PLoS pathogens.

The Targeting of Cystinosin to the Lysosomal Membrane Requires a Tyrosine-based Signal and a Novel Sorting Motif*

C. Antignac, S. Cherqui, G. Trugnan, 2001, The Journal of Biological Chemistry.

Genome Editing in Patient iPSCs Corrects the Most Prevalent USH2A Mutations and Reveals Intriguing Mutant mRNA Expression Profiles

A. Roux, C. Hamel, D. Baux, 2019, Molecular therapy. Methods & clinical development.

Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1.

J. Weissenbach, R. Heilig, D. Samson, 1997, Human molecular genetics.

Identification of the First Single GSDME Exon 8 Structural Variants Associated with Autosomal Dominant Hearing Loss

M. Koenig, Julie Bianchi, A. Roux, 2022, Diagnostics.

Screening for a Canine Model of Choroideremia Exclusively Identifies Nonpathogenic CHM Variants

C. André, C. Hamel, B. Bocquet, 2010, Ophthalmic Research.

Gene transfer may be preventive but not curative for a lysosomal transport disorder.

C. Antignac, R. Schwendener, Olivier Disson, 2008, Molecular therapy : the journal of the American Society of Gene Therapy.

Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis

C. Antignac, E. Legrand, Y. Frishberg, 2002, Human mutation.

Immunolocalization of cystinosin, the protein defective in cystinosis.

C. Antignac, A. Woolf, M. Gubler, 2002, Journal of the American Society of Nephrology : JASN.

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

C. Antignac, S. Cherqui, P. Cochat, 2001, Journal of the American Society of Nephrology : JASN.

Allele-Specific Knockout by CRISPR/Cas to Treat Autosomal Dominant Retinitis Pigmentosa Caused by the G56R Mutation in NR2E3

Michalitsa Diakatou, I. Meunier, V. Kalatzis, 2021, International journal of molecular sciences.

Guiding Lights in Genome Editing for Inherited Retinal Disorders: Implications for Gene and Cell Therapy

V. Kalatzis, Carla Sanjurjo-Soriano, 2018, Neural plasticity.

Proof of concept for AAV2/5-mediated gene therapy in iPSC-derived retinal pigment epithelium of a choroideremia patient

J. de Vos, C. Hamel, V. Rigau, 2014, Molecular therapy. Methods & clinical development.

Side scatter intensity is highly heterogeneous in undifferentiated pluripotent stem cells and predicts clonogenic self-renewal.

J. de Vos, A. Kassambara, V. Kalatzis, 2013, Stem cells and development.

Preclinical pharmacology of a lipophenol in a mouse model of light-induced retinopathy

T. Durand, P. Brabet, Aurélie Cubizolle, 2020, Experimental & Molecular Medicine.

Study of Usutu virus neuropathogenicity in mice and human cellular models

S. Salinas, F. Gosselet, P. Van de Perre, 2020, PLoS neglected tropical diseases.

G. Labesse, M. Picot, D. Hamroun, 2021, International journal of molecular sciences.

Retinitis Punctata Albescens and RLBP1-Allied Phenotypes

G. Labesse, M. Picot, D. Hamroun, 2021, Ophthalmology science.

Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing loss

Julie Bianchi, A. Roux, C. Vaché, 2021, European Journal of Human Genetics.

Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing loss

M. Koenig, Julie Bianchi, A. Roux, 2021, European Journal of Human Genetics.

Genome Editing as a Treatment for the Most Prevalent Causative Genes of Autosomal Dominant Retinitis Pigmentosa

Michalitsa Diakatou, I. Meunier, B. Bocquet, 2019, International journal of molecular sciences.

BOR and BO Syndromes Are Allelic Defects of EYA1

C. Petit, S. Abdelhak, S. Compain, 1997, European journal of human genetics : EJHG.

Mapping of the chromosome 11 breakpoint of the t(4;11)(q21;p14-15) translocation.

A. Dobrovic, G. Peters, V. Kalatzis, 1993, Cancer genetics and cytogenetics.

A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice

C. Rivolta, M. Cortón, C. Ayuso, 2016, PloS one.

The effect of PTC124 on choroideremia fibroblasts and iPSC-derived RPE raises considerations for therapy

A. Roux, C. Hamel, D. Baux, 2018, Scientific Reports.

SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation

M. Cossée, B. Cogné, J. Rendu, 2023, Human Genomics.

Nonsense-mediated mRNA decay efficiency varies in choroideremia providing a target to boost small molecule therapeutics

P. Coffey, A. Webster, A. Dubis, 2019, Human molecular genetics.

The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A

B. Gilbert-Dussardier, Julie Bianchi, M. Claustres, 2021, International journal of molecular sciences.

Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss

M. Cossée, A. Roux, G. Lina-Granade, 2023, European Journal of Human Genetics.

Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients

J. Sahel, P. Gastaud, C. Creuzot-Garcher, 2018, Scientific Reports.

Generation of an iPSC line, INMi001-A, carrying the two most common USH2A mutations from a compound heterozygote with non-syndromic retinitis pigmentosa.

C. Hamel, I. Meunier, G. Manes, 2018, Stem cell research.

Branchio-otic syndromes imbroglio.

V. Kalatzis, C. Petit, 1999, American journal of medical genetics.

Characterization of a translocation-associated deletion defines the candidate region for the gene responsible for branchio-oto-renal syndrome.

C. Petit, S. Abdelhak, S. Compain, 1996, Genomics.

USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids

U. Wolfrum, E. van Wijk, K. Nagel-Wolfrum, 2023, HGG advances.

Corrective GUSB transfer to the canine mucopolysaccharidosis VII brain.

C. Vite, K. Mazouni, M. Haskins, 2014, Molecular Therapy.

Side scatter intensity is highly heterogeneous in undifferentiated pluripotent stem cells and predicts clonogenic self-renewal.

J. de Vos, A. Kassambara, V. Kalatzis, 2013, Stem cells and development.

Exogenous LRRK2G2019S induces parkinsonian-like pathology in a nonhuman primate.

S. Trouche, S. Salinas, E. Kremer, 2018, JCI insight.

Zika virus induces strong inflammatory responses and impairs homeostasis and function of the human retinal pigment epithelium

S. Salinas, P. Van de Perre, Y. Simonin, 2018, EBioMedicine.