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

No abstract is available for this paper.

• Publication year

  2002

• Venue

  Molecular and Cellular Biology

• Publication date

  2002-11-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1128/MCB.22.21.7622-7632.2002PMID 12370309PMCID PMC135682
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• A detailed ethological analysis of the mouse open field test: effects of diazepam, chlordiazepoxide and an extremely low frequency pulsed magnetic field.

  2001cited by this paper
• The Metabolic and Molecular Bases of Inherited Disease

  2001cited by this paper
• The Targeting of Cystinosin to the Lysosomal Membrane Requires a Tyrosine-based Signal and a Novel Sorting Motif*

  2001cited by this paper
• Cystinosin, the protein defective in cystinosis, is a H+‐driven lysosomal cystine transporter

  2001cited by this paper
• Distal myopathy in nephropathic cystinosis

  2000cited by this paper
• Ocular Nonnephropathic Cystinosis: Clinical, Biochemical, and Molecular Correlations

  2000cited by this paper
• Early development of the renal lesions in infantile cystinosis

  2000cited by this paper
• Identification and Characterisation of the Murine Homologue of the Gene Responsible for Cystinosis, Ctns

  2000influential reference
• Cytokines in Gaucher's disease.

  1999cited by this paper
• Mutations of CTNS causing intermediate cystinosis.

  1999cited by this paper
• Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin.

  1999cited by this paper
• Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease.

  1998cited by this paper
• A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis

  1998cited by this paper
• Functional consequences of oncogene-induced horizontal cell degeneration in the retinas of transgenic mice

  1997cited by this paper
• Glucose-dependent Liver Gene Expression in Upstream Stimulatory Factor 2 −/− Mice*

  1997cited by this paper
• Germ line chimeras from female ES cells.

  1997cited by this paper
• Clinical polymorphism of cystinosis encephalopathy. Results of treatment with cysteamine

  1996cited by this paper
• Manipulating the mouse embryo (2nd edn)

  1995cited by this paper
• Ophthalmologic involvement in inherited renal disease.

  1992cited by this paper
• Ophthalmologic involvement in inherited renal disease.

  1992cited by this paper
• Parenchymal organ cystine depletion with long-term cysteamine therapy.

  1992cited by this paper
• Role of adenosine triphosphate (ATP) and NaK ATPase in the inhibition of proximal tubule transport with intracellular cystine loading.

  1991cited by this paper
• Characterization of the lysosomal cystine transport system in mouse L-929 fibroblasts.

  1990cited by this paper
• Lack of complementation in somatic cell hybrids between fibroblasts from patients with different forms of cystinosis.

  1988cited by this paper
• Myopathy and cystine storage in muscles in a patient with nephropathic cystinosis.

  1988cited by this paper
• Ocular changes in long-term evolution of infantile cystinosis.

  1987influential reference
• Cysteamine therapy for children with nephropathic cystinosis.

  1987cited by this paper
• Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis.

  1982cited by this paper
• Infantile cystinosis: a reappraisal of early and late symptoms.

  1981cited by this paper
• Open-field behavior in muroid rodents.

  1976cited by this paper
• Pathology of the kidney in cystinosis.

  1974cited by this paper
• Binding assays for amino acids. The utilization of a cystine binding protein from Escherichia coli for the determination of acid-soluble cystine in small physiological samples.

  1974cited by this paper
• The pathology of the kidney in cystinosis.

  1974cited by this paper
• Cystinosis. An ultrastructural and electron-probe study of the kidney with unusual findings.

  1971cited by this paper
• [Cystinosis with involvement of the central nervous system and muscles (myopathy)].

  1971cited by this paper
• Pathology of the Kidney.

  1967cited by this paper
• Increased Cystine in Leukocytes from Individuals Homozygous and Heterozygous for Cystinosis

  1967cited by this paper
• The Fanconi syndrome with cystinossis. Electron microscopy of renal biopsy specimens from five patients.

  1962cited by this paper
• Protein measurement with the Folin phenol reagent.

  1951cited by this paper

• The Mechanism and Regulation of Disulfidptosis and Its Role in Disease

  2026cites this paper
• Cystinosis and Cellular Energy Failure: Mitochondria at the Crossroads

  2026influential citation
• Cystinosin is involved in Na+/H+ Exchanger 3 trafficking in the proximal tubular cells: new insights in the renal Fanconi syndrome in cystinosis

  2025cites this paper
• JIP4 deficiency causes a lysosomal storage disease arising from impaired cystine efflux

  2025influential citation
• From Molecular Understanding and Pathophysiology to Disease Management; A Practical Approach and Guidance to the Management of the Ocular Manifestations of Cystinosis

  2025cites this paper
• The assessment and treatment of the musculoskeletal manifestations of cystinosis

  2025cites this paper
• Nlrp2 deletion ameliorates kidney damage in a mouse model of cystinosis

  2024cites this paper
• Plasma chitotriosidase enzyme activity as a novel therapeutic monitor for cysteamine treatment in nephropathic cystinosis: A retrospective validation study.

  2024cites this paper
• MFSD12 depletion reduces cystine accumulation without improvement in proximal tubular function in experimental models for cystinosis.

  2024cites this paper
• In vivo deposition of poorly soluble drugs.

  2024cites this paper
• ER-associated degradation in cystinosis pathogenesis and the prospects of precision medicine

  2023cites this paper
• The gene therapy for corneal pathology with novel nonsense cystinosis mouse lines created by CRISPR Gene Editing.

  2023cites this paper
• [Cystinosis: From the gene identification to the first gene therapy clinical trial].

  2023cites this paper
• Inherited Fanconi syndrome

  2023cites this paper
• Cystinosis: Status of research and treatment in India and the world

  2023cites this paper
• Metabolic Advantage of 25(OH)D3 versus 1,25(OH)2D3 Supplementation in Infantile Nephropathic Cystinosis-Associated Adipose Tissue Browning and Muscle Wasting

  2022cites this paper
• Coping with starvation: Cysteine keeps mTORC1 suppressed to ensure survival.

  2022cites this paper
• Current treatment options and novel nanotechnology-driven enzyme replacement strategies for lysosomal storage disorders.

  2022cites this paper
• Ocular biodistribution of cysteamine delivered by a sustained release microsphere/thermoresponsive gel eyedrop.

  2022cites this paper
• Nephropathic Cystinosis: Pathogenic Roles of Inflammation and Potential for New Therapies

  2022cites this paper
• Genistein improves renal disease in a mouse model of nephropathic cystinosis: a comparison study with cysteamine

  2022cites this paper
• Multisystem involvement, defective lysosomes and impaired autophagy in a novel rat model of nephropathic cystinosis

  2022cites this paper
• A sustained release cysteamine microsphere/thermoresponsive gel eyedrop for corneal cystinosis improves drug stability

  2021cites this paper
• Multiorgan Crystal Deposition of an Amphoteric Drug in Rats Due to Lysosomal Accumulation and Conversion to a Poorly Soluble Hydrochloride Salt

  2021cites this paper
• Renal and Extra Renal Manifestations in Adult Zebrafish Model of Cystinosis

  2021cites this paper
• Deficiency of the sedoheptulose kinase (Shpk) does not alter the ability of hematopoietic stem cells to rescue cystinosis in the mouse model

  2021cites this paper
• Hematopoietic Stem Cell Gene Therapy for Cystinosis: From Bench-to-Bedside

  2021cites this paper
• In Vitro and In Vivo Models to Study Nephropathic Cystinosis

  2021influential citation
• Cystinosin deficient rats recapitulate the phenotype of nephropathic cystinosis

  2021cites this paper
• Cysteamine–bicalutamide combination therapy corrects proximal tubule phenotype in cystinosis

  2021cites this paper
• An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis.

  2021cites this paper
• Disease Modeling To Understand the Pathomechanisms of Human Genetic Kidney Disorders.

  2020cites this paper
• Bone and mineral metabolism in children with nephropathic cystinosis compared to other CKD entities.

  2020cites this paper
• Clinical myopathy in patients with nephropathic cystinosis

  2020cites this paper
• Use of Human Induced Pluripotent Stem Cells and Kidney Organoids To Develop a Cysteamine/mTOR Inhibition Combination Therapy for Cystinosis.

  2020cites this paper
• Bone Disease in Nephropathic Cystinosis: Beyond Renal Osteodystrophy

  2020cites this paper
• Pre-clinical Mouse Models of Neurodegenerative Lysosomal Storage Diseases

  2020cites this paper
• Implementation of a method to quantify white blood cell cystine as a diagnostic support for cystinosis

  2020cites this paper
• Management of bone disease in cystinosis: Statement from an international conference

  2019cites this paper
• Use of human iPSCs and kidney organoids to develop a cysteamine/mTOR inhibition combination therapy to treat cystinosis

  2019cites this paper
• Interaction between galectin-3 and cystinosin uncovers a pathogenic role of inflammation in kidney involvement of cystinosis.

  2019cites this paper
• Intrinsic Bone Defects in Cystinotic Mice.

  2019cites this paper
• Clinical Myopathy in Patients with Nephropathic Cystinosis Title Page Clinical Myopathy in Patients with Nephropathic Cystinosis Authors

  2019cites this paper
• Transgenic zebrafish modeling low-molecular-weight proteinuria and lysosomal storage diseases.

  2019cites this paper
• Mitochondrial Dynamics of Proximal Tubular Epithelial Cells in Nephropathic Cystinosis

  2019cites this paper
• Implementation of an intraleukocitary cystine quantification method for diagnosis of cystinosis.

  2019cites this paper
• The novel aminoglycoside, ELX-02, permits CTNSW138X translational read-through and restores lysosomal cystine efflux in cystinosis

  2019cites this paper
• Vitamin D repletion ameliorates adipose tissue browning and muscle wasting in infantile nephropathic cystinosis‐associated cachexia

  2019cites this paper
• Macrophage polarization impacts tunneling nanotube formation and intercellular organelle trafficking

  2019cites this paper
• Protection of Cystinotic Mice by Kidney-Specific Megalin Ablation Supports an Endocytosis-Based Mechanism for Nephropathic Cystinosis Progression.

  2019cites this paper
• Potential use of stem cells as a therapy for cystinosis

  2019cites this paper
• Cystinosin regulates kidney inflammation through its interaction with galectin-3

  2018cites this paper
• Negative modulation of the GABAAρ1 receptor function by l‐cysteine

  2018cites this paper
• Teenagers and young adults with nephropathic cystinosis display significant bone disease and cortical impairment

  2018cites this paper
• Molecular Basis of Cystinosis: Geographic Distribution, Functional Consequences of Mutations in the CTNS Gene, and Potential for Repair

  2018cites this paper
• Bone disease in nephropathic cystinosis is related to cystinosin-induced osteoclastic dysfunction

  2018cites this paper
• L'autotaxine est un nouveau facteur autocrine contrôlant l'activité ostéoclastique et la perte osseuse en conditions inflammatoires

  2018cites this paper
• Impact of atypical mitochondrial cyclic-AMP level in nephropathic cystinosis

  2018cites this paper
• Cystinosis (ctns) zebrafish mutant shows pronephric glomerular and tubular dysfunction

  2017cites this paper
• The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives

  2017cites this paper
• Exacerbating and reversing lysosomal storage diseases: from yeast to humans

  2017influential citation
• Lysosomal enzyme replacement therapies: Historical development, clinical outcomes, and future perspectives

  2017cites this paper
• Cystinosin is a Component of the Vacuolar H+-ATPase-Ragulator-Rag Complex Controlling Mammalian Target of Rapamycin Complex 1 Signaling.

  2016cites this paper
• Title The renal Fanconi syndrome in cystinosis : pathogenic insights and therapeutic perspectives

  2016cites this paper
• Skeletal implications and management of cystinosis: three case reports and literature review.

  2016cites this paper
• Endo-Lysosomal Dysfunction in Human Proximal Tubular Epithelial Cells Deficient for Lysosomal Cystine Transporter Cystinosin

  2015cites this paper
• 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.

  2015cites this paper
• Treatment of Inherited Eye Defects by Systemic Hematopoietic Stem Cell Transplantation.

  2015cites this paper
• Inhibition of intracellular clusterin attenuates cell death in nephropathic cystinosis.

  2015cites this paper
• Cysteamine treatment restores the in vitro ability to differentiate along the osteoblastic lineage of mesenchymal stromal cells isolated from bone marrow of a cystinotic patient

  2015cites this paper
• The swan-neck lesion: proximal tubular adaptation to oxidative stress in nephropathic cystinosis.

  2015cites this paper
• Chiari I Malformation in Nephropathic Cystinosis.

  2015cites this paper
• Photophobia and corneal crystal density in nephropathic cystinosis: an in vivo confocal microscopy and anterior-segment optical coherence tomography study.

  2015cites this paper
• Brief Reports: Lysosomal Cross‐Correction by Hematopoietic Stem Cell‐Derived Macrophages Via Tunneling Nanotubes

  2015cites this paper
• Treatment of corneal cystine crystal accumulation in patients with cystinosis

  2014cites this paper
• Renal Regeneration: The Stem Cell Biology Approach

  2014cites this paper
• rAAV9 combined with renal vein injection is optimal for kidney-targeted gene delivery: conclusion of a comparative study

  2014cites this paper
• Inflammasome activation by cystine crystals: implications for the pathogenesis of cystinosis.

  2014cites this paper
• Dedifferentiation and aberrations of the endolysosomal compartment characterize the early stage of nephropathic cystinosis.

  2014cites this paper
• Is genetic rescue of cystinosis an achievable treatment goal?

  2014cites this paper
• Calcifications pathologiques : un diagnostic médical basé sur leurs paramètres physicochimiques

  2014cites this paper
• Treatment of corneal cystine crystal accumulation in patients with cystinosis

  2014cites this paper
• Progressive destructive bone changes in patients with cystinosis

  2014cites this paper
• [Pathological calcifications: a medical diagnosis based on their physicochemical properties].

  2014cites this paper
• Cystine dimethylester loading promotes oxidative stress and a reduction in ATP independent of lysosomal cystine accumulation in a human proximal tubular epithelial cell line

  2013cites this paper
• Hematopoietic stem cell gene therapy for the multisystemic lysosomal storage disorder cystinosis.

  2013cites this paper
• Studying nonobstructive azoospermia in cystinosis: histologic examination of testes and epididymis and sperm analysis in a Ctns⁻/⁻ mouse model.

  2012cites this paper
• High Turnover Rates for Hydrogen Sulfide Allow for Rapid Regulation of Its Tissue Concentrations

  2012cites this paper
• p62/SQSTM1 prominently accumulates in renal proximal tubules in nephropathic cystinosis

  2012cites this paper
• Hereditary Tubular Disorders of Mineral Handling

  2012cites this paper
• Investigating mechanisms of chronic kidney disease in mouse models

  2012cites this paper
• Cystinosis: the evolution of a treatable disease

  2012cites this paper
• Stem Cells as a Therapeutic Approach to Chronic Kidney Diseases

  2012cites this paper
• Distribution of cystinosin-LKG in human tissues

  2012cites this paper
• Cystinosin is a melanosomal protein that regulates melanin synthesis

  2012cites this paper
• Kidney preservation by bone marrow cell transplantation in hereditary nephropathy.

  2011cites this paper
• Kidney repair and stem cells: a complex and controversial process

  2011cites this paper
• Evaluation of topical cysteamine therapy in the CTNS−/− knockout mouse using in vivo confocal microscopy

  2011cites this paper
• Quantitative in vivo and ex vivo confocal microscopy analysis of corneal cystine crystals in the Ctns−/− knockout mouse

  2011cites this paper
• Toward understanding renal Fanconi syndrome: step by step advances through experimental models.

  2011cites this paper