Nephropathic cystinosis: an international consensus document

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

Upregulation of the Rab27a-Dependent Trafficking and Secretory Mechanisms Improves Lysosomal Transport, Alleviates Endoplasmic Reticulum Stress, and Reduces Lysosome Overload in Cystinosis

(2013) J. L. Johnson et al.   MOLECULAR AND CELLULAR BIOLOGY

A Randomized Controlled Crossover Trial with Delayed-Release Cysteamine Bitartrate in Nephropathic Cystinosis: Effectiveness on White Blood Cell Cystine Levels and Comparison of Safety

(2012) C. B. Langman et al.   Clinical Journal of the American Society of Nephrology

Distribution of cystinosin-LKG in human tissues

(2012) Anna Taranta et al.   HISTOCHEMISTRY AND CELL BIOLOGY

A Potential New Method to Estimate Tissue Cystine Content in Nephropathic Cystinosis

(2012) Ranjan Dohil et al.   JOURNAL OF PEDIATRICS

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

Stem Cell Microvesicles Transfer Cystinosin to Human Cystinotic Cells and Reduce Cystine Accumulation In Vitro

(2012) Diana M. Iglesias et al.   PLoS One

Mechanism of proton/substrate coupling in the heptahelical lysosomal transporter cystinosin

(2012) R. Ruivo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Improvement in the Renal Prognosis in Nephropathic Cystinosis

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

Cysteamine Toxicity in Patients with Cystinosis

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

Kidney preservation by bone marrow cell transplantation in hereditary nephropathy

(2011) Brian A. Yeagy et al.   KIDNEY INTERNATIONAL

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

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

Modulation of CTNS gene expression by intracellular thiols

(2010) Francesco Bellomo et al.   FREE RADICAL BIOLOGY AND MEDICINE

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

(2010) Marcella Greco et al.   PEDIATRIC NEPHROLOGY

Cystinosis: practical tools for diagnosis and treatment

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

Can Animal Models of Disease Reliably Inform Human Studies?

(2010) H. Bart van der Worp et al.   PLOS MEDICINE

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

Mitochondrial Autophagy Promotes Cellular Injury in Nephropathic Cystinosis

(2009) P. Sansanwal et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

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

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

In Vivo Confocal Microscopy and Anterior Segment Optical Coherence Tomography Analysis of the Cornea in Nephropathic Cystinosis

(2009) Antoine Labbé et al.   OPHTHALMOLOGY

Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of theCARKLgene

(2008) Mirjam M.C. Wamelink et al.   HUMAN MUTATION