Modeling of Fabry disease nephropathy using patient derived human induced pluripotent stem cells and kidney organoid system

Reduced α-galactosidase A activity in zebrafish (Danio rerio) mirrors distinct features of Fabry nephropathy phenotype

(2022) Hassan O.A. Elsaid et al.   Molecular Genetics and Metabolism Reports

Establishment and Characterization of MUi027-A: A Novel Patient-Derived Cell Line of Polycystic Kidney Disease with PKD1 Mutation

(2022) Aung Khine Linn et al.   Journal of Personalized Medicine

The genetic spectrum of Gitelman(-like) syndromes

(2022) Karl P. Schlingmann et al.   CURRENT OPINION IN NEPHROLOGY AND HYPERTENSION

Determining epigenetic memory in kidney proximal tubule cell derived induced pluripotent stem cells using a quadruple transgenic reprogrammable mouse

(2022) Gabriel Khelifi et al.   Scientific Reports

Human-induced pluripotent stem cell lines (CMCi006-A and CMCi007-A) from a female and male patient with Fabry disease carrying the same frameshift deletion mutation

(2021) Sheng Cui et al.   Stem Cell Research

DNA methylation impact on Fabry disease

(2021) Teodolinda Di Risi et al.   Clinical Epigenetics

Human kidney organoids reveal the role of glutathione in Fabry disease

(2021) Jin Won Kim et al.   EXPERIMENTAL AND MOLECULAR MEDICINE

Molecular Basis, Diagnostic Challenges and Therapeutic Approaches of Bartter and Gitelman Syndromes: A Primer for Clinicians

(2021) Laura Nuñez-Gonzalez et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Accumulation of Globotriaosylceramide in Podocytes in Fabry Nephropathy Is Associated with Progressive Podocyte Loss

(2020) Behzad Najafian et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Generation of a human induced pluripotent stem cell line (CMCi002-A) from a patient with Gitelman’s syndrome

(2020) Sun Woo Lim et al.   Stem Cell Research

CRISPR Gene Editing in the Kidney

(2018) Nelly M. Cruz et al.   AMERICAN JOURNAL OF KIDNEY DISEASES

Fabry disease in the Spanish population: observational study with detection of 77 patients

(2018) Irene Vieitez et al.   Orphanet Journal of Rare Diseases

Generation of Fabry cardiomyopathy model for drug screening using induced pluripotent stem cell-derived cardiomyocytes from a female Fabry patient

(2018) Yuki Kuramoto et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Organoids from Nephrotic Disease-Derived iPSCs Identify Impaired NEPHRIN Localization and Slit Diaphragm Formation in Kidney Podocytes

(2018) Shunsuke Tanigawa et al.   Stem Cell Reports

α-galactosidase A deficiency promotes von Willebrand factor secretion in models of Fabry disease

(2018) Justin J. Kang et al.   KIDNEY INTERNATIONAL

Organoid cystogenesis reveals a critical role of microenvironment in human polycystic kidney disease

(2017) Nelly M. Cruz et al.   NATURE MATERIALS

Identification of a novel GLA mutation (Y88C) in a Korean family with Fabry nephropathy: a case report

(2016) Yosep Chong et al.   BMC Medical Genetics

GLA variation p.E66Q identified as the genetic etiology of Fabry disease using exome sequencing

(2016) Hao Peng et al.   GENE

Molecular and clinical studies in five index cases with novel mutations in the GLA gene

(2016) Carmela Zizzo et al.   GENE

Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry

(2016) Alberto Ortiz et al.   JOURNAL OF MEDICAL GENETICS

Identification of mutations in Colombian patients affected with Fabry disease

(2015) Alfredo Uribe et al.   GENE

Modelling kidney disease with CRISPR-mutant kidney organoids derived from human pluripotent epiblast spheroids

(2015) Benjamin S. Freedman et al.   Nature Communications

Disease Modeling and Phenotypic Drug Screening for Diabetic Cardiomyopathy using Human Induced Pluripotent Stem Cells

(2014) Faye M. Drawnel et al.   Cell Reports

A symptomatic Fabry disease mouse model generated by inducing globotriaosylceramide synthesis

(2013) Atsumi Taguchi et al.   BIOCHEMICAL JOURNAL

Applications of Patient-Specific Induced Pluripotent Stem Cells; Focused on Disease Modeling, Drug Screening and Therapeutic Potentials for Liver Disease

(2012) Yong Soon Chun et al.   International Journal of Biological Sciences

Possible role of transforming growth factor-β1 and vascular endothelial growth factor in Fabry disease nephropathy

(2012) MI HEE LEE et al.   INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE

Identification of a Novel Mutation and Prevalence Study for Fabry Disease in Japanese Dialysis Patients

(2012) Tomoya Nishino et al.   RENAL FAILURE

Epigenetic Memory and Preferential Lineage-Specific Differentiation in Induced Pluripotent Stem Cells Derived from Human Pancreatic Islet Beta Cells

(2011) Ori Bar-Nur et al.   Cell Stem Cell

Induced pluripotent stem cells — opportunities for disease modelling and drug discovery

(2011) Marica Grskovic et al.   NATURE REVIEWS DRUG DISCOVERY

The Human Gene Mutation Database: 2008 update

(2009) Peter D Stenson et al.   Genome Medicine

Fabry's disease

(2008) Yuri A Zarate et al.   LANCET

Elevated globotriaosylsphingosine is a hallmark of Fabry disease

(2008) J. M. Aerts et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA