Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Nephropathic cystinosis: an update on genetic conditioning.

Pediatric nephrology (Berlin, Germany) - 1 Jun 2021

Topaloglu Rezan

Abstract excerpt

Cystinosis is an autosomal recessive lysosomal storage disorder caused by CTNS gene mutations. The CTNS gene encodes the protein cystinosin, which transports free cystine from lysosomes to cytoplasm. In cases of cystinosin deficiency, free cystine accumulates in lysosomes and forms toxic crystals that lead to tissue and organ damage. Since CTNS gene mutations were first described, many variations have been...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Enzymes and Metabolism
Share to Amino Acid Transport Systems, Neutral
Share to Biomedical Research and Pathophysiology

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cystine

Share to Cystinosis

Share to Fanconi Syndrome

Share to Mutation

Share to Neonatal Health and Biochemistry

Source

Identifiers

PMID: 32564281
DOI: 10.1007/s00467-020-04638-9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Nephropathic cystinosis: an update on genetic conditioning.PMID 32564281Read ↗

Cystinosis.Semantic proximity Read ↗

Controversies and research agenda in nephropathic cystinosis: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference.Semantic proximity Read ↗

Molecular Mechanisms and Treatment Options of Nephropathic Cystinosis.Semantic proximity Read ↗

Molecular Basis of Cystinosis: Geographic Distribution, Functional Consequences of Mutations in the CTNS Gene, and Potential for RepairSemantic proximity Read ↗

Nephropathic cystinosis: late complications of a multisystemic disease.Semantic proximity Read ↗

Cystinosin-deficient rats recapitulate the phenotype of nephropathic cystinosis.Semantic proximity Read ↗

Nephropathic cystinosis in a Chilean cohort: Clinical and genetic characterizationSemantic proximity Read ↗

Renal and Extra Renal Manifestations in Adult Zebrafish Model of Cystinosis.Semantic proximity Read ↗

Cystinosin deficient rats recapitulate the phenotype of nephropathic cystinosisSemantic proximity Read ↗

Effects of long-term cysteamine treatment in patients with cystinosis.Semantic proximity Read ↗

Management of bone disease in cystinosis: Statement from an international conferenceSemantic proximity Read ↗

Cystinosis induced by CTNS gene mutation: a rare disease study.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.