ReviewPediatric nephrology (Berlin, Germany)2003
New aspects of the pathogenesis of cystinosis.
Review in Pediatric nephrology (Berlin, Germany), 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
18 citing papers in PubMed, 70 citations in OpenAlex.
- Syndromic Retinitis Pigmentosa: A Narrative Review.Vision (Basel, Switzerland) · 2025Review
- A different approach to cystinosis: ultrasound, doppler, and shear wave elastography findings of thyroid gland.Orphanet journal of rare diseases · 2023Article
- Cystinosis: Status of research and treatment in India and the world.Journal of biosciences · 2023Article
- Cystinosis and two rare mutations in CTNS gene: two case reports.Journal of medical case reports · 2022Article
- CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report.BMC nephrology · 2019Article
- The Ocular Status of Cystinosis Patients Receiving a Hospital Pharmacy-Made Preparation of Cysteamine Eye Drops: A Case Series.Ophthalmology and therapy · 2019Article
- Cysteamine hydrochloride eye drop solution for the treatment of corneal cystine crystal deposits in patients with cystinosis: an evidence-based review.Clinical ophthalmology (Auckland, N.Z.) · 2018Review
- Mutation analysis of theHuman genome variation · 2017Article
- Muscle wasting and adipose tissue browning in infantile nephropathic cystinosis.Journal of cachexia, sarcopenia and muscle · 2016Article
- Chiari I Malformation in Nephropathic Cystinosis.The Journal of pediatrics · 2015Article
- A case of corneal cystinosis in a patient with rickets and chronic renal failure.Indian journal of ophthalmology · 2015Article
- Progressive destructive bone changes in patients with cystinosis.Skeletal radiology · 2013Article
- A patient with cystinosis presenting like bartter syndrome and review of literature.Iranian journal of pediatrics · 2012Article
- Mechanism of proton/substrate coupling in the heptahelical lysosomal transporter cystinosin.Proceedings of the National Academy of Sciences of the United States of America · 2012Article
- Genetic basis of cystinosis in Turkish patients: a single-center experience.Pediatric nephrology (Berlin, Germany) · 2012Article
- Cysteamine, the natural metabolite of pantetheinase, shows specific activity against Plasmodium.Experimental parasitology · 2010Article
- Effects of cysteamine on oxidative status in cerebral cortex of rats.Metabolic brain disease · 2008Article
- Protein reabsorption in renal proximal tubule-function and dysfunction in kidney pathophysiology.Pediatric nephrology (Berlin, Germany) · 2004Review
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cystinosis is a lysosomal transport disorder characterized by an intra-lysosomal accumulation of cystine, the disulfide of the amino acid cysteine. It is the most common inherited cause of the renal Fanconi syndrome. There are various clinical forms, infantile, juvenile, and ocular, based on age of onset and severity of symptoms. The first clinical description appeared in the early 1900s, but it was not until 1998 that the causative gene, CTNS, was identified. CTNS encodes cystinosin, a novel seven transmembrane domain (TM) protein. Cystinosin is a lysosomal membrane protein that requires two lysosomal targeting signals: a classic GYDQL motif in its C-terminal tail and a novel conformational motif, the core of which is YFPQA, situated in the fifth inter-TM loop. Cystinosin is the lysosomal cystine transporter and its activity is H(+)-driven. A mouse model of cystinosis was recently generated and Ctns(-/-) mice accumulate cystine in all tissues. A high level of cystine accumulates in the kidney, but these mice do not present with proximal tubulopathy or renal dysfunction. The Ctns(-/-) mouse model may provide clues to the cause of the Fanconi syndrome associated with cystinosis, the origin of which remains poorly understood.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.