Cystinosis: a review

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

(2015) H. P. Gaide Chevronnay et al.   ENDOCRINOLOGY

Cystinosin is a Component of the Vacuolar H+-ATPase-Ragulator-Rag Complex Controlling Mammalian Target of Rapamycin Complex 1 Signaling

(2015) Z. Andrzejewska et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Excellent long-term outcome of renal transplantation in cystinosis patients

(2015) Camille Cohen et al.   Orphanet Journal of Rare Diseases

Human Urine as a Noninvasive Source of Kidney Cells

(2015) Fanny Oliveira Arcolino et al.   Stem Cells International

Endo-Lysosomal Dysfunction in Human Proximal Tubular Epithelial Cells Deficient for Lysosomal Cystine Transporter Cystinosin

(2015) Ekaterina A. Ivanova et al.   PLoS One

Epidemiology of lysosomal storage diseases in Sweden

(2014) Malin Hult et al.   ACTA PAEDIATRICA

A morphological and functional comparison of proximal tubule cell lines established from human urine and kidney tissue

(2014) J. Jansen et al.   EXPERIMENTAL CELL RESEARCH

Time Course of Pathogenic and Adaptation Mechanisms in Cystinotic Mouse Kidneys

(2014) H. P. Gaide Chevronnay et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Inflammasome Activation by Cystine Crystals: Implications for the Pathogenesis of Cystinosis

(2014) G. Prencipe et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

A new gel formulation of topical cysteamine for the treatment of corneal cystine crystals in cystinosis: The Cystadrops OCT-1 study

(2014) Antoine Labbé et al.   MOLECULAR GENETICS AND METABOLISM

Nephropathic cystinosis: an international consensus document

(2014) F. Emma et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Clinical utility of chitotriosidase enzyme activity in nephropathic cystinosis

(2014) Mohamed A Elmonem et al.   Orphanet Journal of Rare Diseases

Cystinosis: renal glomerular and renal tubular function in relation to compliance with cystine-depleting therapy

(2014) Galina Nesterova et al.   PEDIATRIC NEPHROLOGY

Clinical utility gene card for: Cystinosis

(2013) Elena Levtchenko et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Cystinosin is a melanosomal protein that regulates melanin synthesis

(2012) Christine Chiaverini et al.   FASEB JOURNAL

Hematopoietic Stem Cell Gene Therapy for the Multisystemic Lysosomal Storage Disorder Cystinosis

(2012) Frank Harrison et al.   MOLECULAR THERAPY

Detailed studies of growth hormone secretion in cystinosis patients

(2012) Martine T. P. Besouw et al.   PEDIATRIC NEPHROLOGY

Cystinosis: the evolution of a treatable disease

(2012) Galina Nesterova et al.   PEDIATRIC NEPHROLOGY

Heptahelical protein PQLC2 is a lysosomal cationic amino acid exporter underlying the action of cysteamine in cystinosis therapy

(2012) A. Jezegou et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Tryptic peptide screening for primary immunodeficiency disease by LC/MS-MS

(2012) Sandra A. Kerfoot et al.   Proteomics Clinical Applications

LAAT-1 Is the Lysosomal Lysine/Arginine Transporter That Maintains Amino Acid Homeostasis

(2012) B. Liu et al.   SCIENCE

Improvement in the Renal Prognosis in Nephropathic Cystinosis

(2011) K. J. Van Stralen et al.   Clinical Journal of the American Society of Nephrology

A homemade MLPA assay detects known CTNS mutations and identifies a novel deletion in a previously unresolved cystinosis family

(2011) Michael Kiehntopf et al.   GENE

Cysteamine Toxicity in Patients with Cystinosis

(2011) Martine T.P. Besouw et al.   JOURNAL OF PEDIATRICS

In vivo reflectance confocal microscopy of the skin: A noninvasive means of assessing body cystine accumulation in infantile cystinosis

(2011) Christine Chiavérini et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Cysteamine therapy delays the progression of nephropathic cystinosis in late adolescents and adults

(2011) Albane Brodin-Sartorius et al.   KIDNEY INTERNATIONAL

Cystinosis Presenting with Findings of Bartter Syndrome - Case Report

(2011) Behzat Özkan et al.   Journal of Clinical Research in Pediatric Endocrinology

Abnormal mitochondrial autophagy in nephropathic cystinosis

(2010) Poonam Sansanwal et al.   Autophagy

Neurocognitive functioning in school-aged cystinosis patients

(2010) M. T. P. Besouw et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Elevated concentrations of sedoheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion: Implications for diagnostics and neonatal screening

(2010) M.M.C. Wamelink et al.   MOLECULAR GENETICS AND METABOLISM

Long-term outcome of nephropathic cystinosis: a 20-year single-center experience

(2010) Marcella Greco et al.   PEDIATRIC NEPHROLOGY

Analysis of CTNS gene transcripts in nephropathic cystinosis

(2010) Anna Taranta et al.   PEDIATRIC NEPHROLOGY

Cystinosis: practical tools for diagnosis and treatment

(2010) Martijn J. Wilmer et al.   PEDIATRIC NEPHROLOGY

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

(2009) K. Syres et al.   BLOOD

Developmental changes in cerebral white matter microstructure in a disorder of lysosomal storage

(2009) Sunita Bava et al.   CORTEX

Fertility status in male cystinosis patients treated with cysteamine

(2009) Martine T.P. Besouw et al.   FERTILITY AND STERILITY

Twice-Daily Cysteamine Bitartrate Therapy for Children with Cystinosis

(2009) Ranjan Dohil et al.   JOURNAL OF PEDIATRICS

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

(2009) N. Nevo et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Nephrolithiasis related to inborn metabolic diseases

(2009) Pierre Cochat et al.   PEDIATRIC NEPHROLOGY

Urinary Protein Excretion Pattern and Renal Expression of Megalin and Cubilin in Nephropathic Cystinosis

(2008) Martijn J. Wilmer et al.   AMERICAN JOURNAL OF KIDNEY DISEASES

Late-Onset Nephropathic Cystinosis: Clinical Presentation, Outcome, and Genotyping

(2008) A. Servais et al.   Clinical Journal of the American Society of Nephrology