Cystinosis: Status of research and treatment in India and the world

Abderhalden E 1903 Familiäre Cystindiathese. J. Biol. Chem. 38 557–561

CAS  Google Scholar 

Anikster Y, Lucero C, Touchman JW, et al. 1999 Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS). Mol. Genet. Metab. 66 111–116

Article  CAS  PubMed  Google Scholar 

Berlingerio SP, He J, De Groef L, et al. 2021 Renal and extra renal manifestations in adult zebrafish model of cystinosis. Int. J. Mol. Sci. 22 9398

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bertholet-Thomas A, Bacchetta J, Tasic V, et al. 2014 Nephropathic cystinosis-a gap between developing and developed nations. N. Engl. J. Med. 370 1366–1367

Article  CAS  PubMed  Google Scholar 

Bertholet-Thomas A, Berthiller J, Tasic V, et al. 2017 Worldwide view of nephropathic cystinosis: results from a survey from 30 countries. BMC Nephrol. 18 210

Brasell EJ, Chu L, El Kares R, et al. 2019 The aminoglycoside geneticin permits translational readthrough of the CTNS W138X nonsense mutation in fibroblasts from patients with nephropathic cystinosis. Pediatr. Nephrol. 34 873–881

Article  PubMed  Google Scholar 

Chadha N, Anand K, Agarwal P, et al. 2022 POS-090 Cystinosis: A rare but treatable cause of proximal renal tubular acidosis. Kidney Int. Rep. 7 S37–S38

Cherqui S, Kalatzis V, Trugnan G, et al. 2001 The targeting of cystinosin to the lysosomal membrane requires a tyrosine-based signal and a novel sorting motif. J. Biol. Chem. 276 13314–13321

Article  CAS  PubMed  Google Scholar 

Cherqui S and Courtoy PJ 2017 The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives. Nat. Rev. Nephrol. 13 115–131

Article  CAS  PubMed  Google Scholar 

Cherqui S 2021 Hematopoietic stem cell gene therapy for cystinosis: From bench-to-bedside. Cells 10 3273

Article  CAS  PubMed  PubMed Central  Google Scholar 

Cherqui S, Sevin C, Hamard G et al. 2002 Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis. Mol. Cell Biol. 22 7622–7632

Cheung PY, Harrison PT, Davidson AJ, et al. 2022 In vitro and in vivo models to study nephropathic cystinosis. Cells 11 6

Article  CAS  Google Scholar 

Das G, Nanda PM, Kaur A, et al. 2021 Bartter syndrome and hypothyroidism masquerading cystinosis in a 3-year-old girl: rare manifestation of a rare disease. BMJ Case Rep. 14 e242954

Article  PubMed  PubMed Central  Google Scholar 

David D, PrincieroBerlingerio S, Elmonem MA, et al. 2019 Molecular basis of cystinosis: geographic distribution, functional consequences of mutations in the CTNS gene, and potential for repair. Nephron 141 133–146

Article  CAS  PubMed  Google Scholar 

Deepthi B, Krishnamurthy S, Karunakar P, et al. 2022 Atypical manifestations of infantile-onset nephropathic cystinosis: a diagnostic challenge. CEN Case Rep. 11 347–350

De Leo E, Elmonem MA, Berlingerio SP, et al. 2020 Cell-based phenotypic drug screening identifies luteolin as candidate therapeutic for nephropathic cystinosis. Am. J. Nephrol. 31 1522–1537

Article  Google Scholar 

Deshpande AA, Ravichandran R and Bachhawat AK 2017 Molecular analysis of the CTNS gene in Indians with nephropathic cystinosis. Indian J. Pediatr. 84 240–241

Article  PubMed  Google Scholar 

Deshpande AA, Shukla A and Bachhawat AK 2018 A genetic screen for investigating the human lysosomal cystine transporter Cystinosin. Sci. Rep. 8 3442

Article  PubMed  PubMed Central  Google Scholar 

Elmonem MA, Veys KR, Soliman NA, et al. 2016 Cystinosis: a review. Orphanet J. Rare Dis. 11 47

Article  PubMed  PubMed Central  Google Scholar 

Elmonem MA, Veys K, Arcolino FO, et al. 2018 Allogeneic HSCT transfers wild-type cystinosin to nonhematological epithelial cells in cystinosis: First human report. Am. J. Transplant. 18 2823–2828

Article  CAS  PubMed  Google Scholar 

Emma F, Nesterova G, Langman C, et al. 2014 Nephropathic cystinosis: an international consensus document. Nephrol. Dial. Transplant. 29 iv87–iv94

Gahl W, Bashan N and Tietze F 1982 Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis. Science 217 1263–1265

Article  CAS  PubMed  Google Scholar 

Gahl WA, Thoene JG and Schneider JA 2002 Cystinosis. N. Engl. J. Med. 347 111–121

Article  PubMed  Google Scholar 

Gaide Chevronnay HP, Janssens V, Van Der Smissen P, et al. 2015 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. Endocrinology 156 2349–2364

Article  CAS  PubMed  PubMed Central  Google Scholar 

Galarreta CI, Forbes MS, Thornhill BA, et al. 2015 The swan-neck lesion: proximal tubular adaptation to oxidative stress in nephropathic cystinosis. Am. J. Physiol. Renal Physiol. 308 F1155–F1166

Article  CAS  PubMed  Google Scholar 

Goodman S, Khan M, Sharma J, et al. 2021 Deficiency of the sedoheptulose kinase (Shpk) does not alter the ability of hematopoietic stem cells to rescue cystinosis in the mouse model. Mol. Genet. Metab. 134 309–316

Article  CAS  PubMed  PubMed Central  Google Scholar 

Guo X, Schmiege P, Assafa TE, et al. 2022 Structure and mechanism of human cystine exporter cystinosin. Cell 185 e3718

Article  Google Scholar 

Jamalpoor A, Othman A, Levtchenko EN, et al. 2021 Molecular mechanisms and treatment options of nephropathic cystinosis. Trends Mol. Med. 27 673–686

Article  CAS  PubMed  Google Scholar 

Jézégou A, Llinares E, Anne C, et al. 2012 Heptahelical protein PQLC2 is a lysosomal cationic amino acid exporter underlying the action of cysteamine in cystinosis therapy. Proc. Natl. Acad. Sci. USA 109 E3434–E3443

Article  PubMed  PubMed Central  Google Scholar 

Jonas AJ, Smith ML and Schneider JA 1982 ATP-dependent lysosomal cystine efflux is defective in cystinosis. J. Biol. Chem. 257 13185–13188

Article  CAS  PubMed  Google Scholar 

Kalatzis V, Cherqui S, Antignac C, et al. 2001 Cystinosin, the protein defective in cystinosis, is a H+-driven lysosomal cystine transporter. EMBO J. 20 5940–5949

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kalatzis V and Antignac C 2003 New aspects of the pathogenesis of cystinosis. Pediatr. Nephrol. 18 207–215

Article  PubMed  Google Scholar 

Kanthila J, Dsa S and Bhat KG 2015 Nephropathic cystinosis presenting as renal fanconi syndrome without glycosuria. J. Clin. Diagn. Res. 9 SD05–06

Kiran BV, Barman H and Iyengar A 2014 Clinical profile and outcome of renal tubular disorders in children: A single center experience. Indian J. Nephrol. 24 362–366

Article  PubMed  PubMed Central  Google Scholar 

Kumar A and Bachhawat AK 2010 A futile cycle, formed between two ATP-dependant γ-glutamyl cycle enzymes, γ-glutamyl cysteine synthetase and 5-oxoprolinase: the cause of cellular ATP depletion in nephrotic cystinosis? J. Biosci. 35 21–25

Article  CAS  PubMed  Google Scholar 

Levtchenko E and Monnens L 2006 Development of Fanconi syndrome during infancy in a patient with cystinosis. Acta Paediatr. 95 379–380

Article  PubMed  Google Scholar 

Levtchenko E, Van Den Heuvel L, Emma F, et al. 2014 Clinical utility gene card for: cystinosis. Eur. J. Hum. Genet. 22 713–713

Article  Google Scholar 

Liu B, Du H, Rutkowski R, et al. 2012 LAAT-1 is the lysosomal lysine/arginine transporter that maintains amino acid homeostasis. Science 337 351–354

Article  CAS  PubMed  PubMed Central  Google Scholar 

Mittal D, Bagga A, Tandon R, et al. 2015 Hirschsprung’s disease with infantile nephropathic cystinosis. J. Indian Assoc. Pediatr. Surg. 20 153

Article  PubMed  PubMed Central  Google Scholar 

Naik MP, Sethi HS and Dabas S 2019 Ocular cystinosis: Rarity redefined. Indian J. Ophthalmol. 67 1158–1159

Omasits U, Ahrens CH, Müller S, et al. 2014 Protter: interactive protein feature visualization and integration with experimental proteomic data. Bioinformatics 30 884–886

Article  CAS  PubMed  Google Scholar 

Orlowski M and Meister A 1971 Isolation of highly purified γ-glutamylcysteine synthetase from rat kidney. Biochemistry 10 372–380

Article  CAS  PubMed  Google Scholar 

Park M, Helip-Wooley A and Thoene J 2002 Lysosomal cystine storage augments apoptosis in cultured human fibroblasts and renal tubular epithelial cells. J. Am. Soc. Nephrol. 13 2878–2887

Article  CAS  PubMed  Google Scholar 

Phadke K, Kumar P, Karthik S, et al. 2004 Infantile nephropathic cystinosis. Indian J. Nephrol. 14 18–21

Google Scholar 

Pisoni RL, Park GY, Velilla VQ, et al. 1995 Detection and characterization of a transport system mediating cysteamine entry into human fibroblast lysosomes: specificity for aminoethylthiol and aminoethyl sulfide derivatives. J. Biol. Chem. 270 1179–1184

Article  CAS  PubMed 

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