Literature DB >> 10384373

Pyroglutamic aciduria and nephropathic cystinosis.

C Rizzo1, A Ribes, A Pastore, C Dionisi-Vici, M Greco, G Rizzoni, G Federici.   

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Year:  1999        PMID： 10384373     DOI： 10.1023/a:1005545012776

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  2 in total

1.  Fully automated assay for total homocysteine, cysteine, cysteinylglycine, glutathione, cysteamine, and 2-mercaptopropionylglycine in plasma and urine.

Authors:  A Pastore; R Massoud; C Motti; A Lo Russo; G Fucci; C Cortese; G Federici
Journal:  Clin Chem       Date:  1998-04       Impact factor: 8.327

2.  Proximal tubule dysfunction in cystine-loaded tubules: effect of phosphate and metabolic substrates.

Authors:  G Bajaj; M Baum
Journal:  Am J Physiol       Date:  1996-09
  2 in total
  6 in total

1.  Glutathione depletion and increased apoptosis rate in human cystinotic proximal tubular cells.

Authors:  Guido F Laube; Vanita Shah; Victoria C Stewart; Iain P Hargreaves; Mushfequr R Haq; Simon J R Heales; William G van't Hoff
Journal:  Pediatr Nephrol       Date:  2006-03-01       Impact factor: 3.714

Review 2.  The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives.

Authors:  Stephanie Cherqui; Pierre J Courtoy
Journal:  Nat Rev Nephrol       Date:  2016-12-19       Impact factor: 28.314

3.  A futile cycle, formed between two ATP-dependant gamma-glutamyl cycle enzymes, gamma-glutamyl cysteine synthetase and 5-oxoprolinase: the cause of cellular ATP depletion in nephrotic cystinosis?

Authors:  Akhilesh Kumar; Anand Kumar Bachhawat
Journal:  J Biosci       Date:  2010-03       Impact factor: 1.826

Review 4.  Inborn errors in the metabolism of glutathione.

Authors:  Ellinor Ristoff; Agne Larsson
Journal:  Orphanet J Rare Dis       Date:  2007-03-30       Impact factor: 4.123

Review 5.  The Role of Cystinosin in the Intermediary Thiol Metabolism and Redox Homeostasis in Kidney Proximal Tubular Cells.

Authors:  Rodolfo Sumayao; Philip Newsholme; Tara McMorrow
Journal:  Antioxidants (Basel)       Date:  2018-12-03

6.  Cysteamine-bicalutamide combination therapy corrects proximal tubule phenotype in cystinosis.

Authors:  Amer Jamalpoor; Charlotte Agh van Gelder; Fjodor A Yousef Yengej; Esther A Zaal; Sante P Berlingerio; Koenraad R Veys; Carla Pou Casellas; Koen Voskuil; Khaled Essa; Carola Me Ammerlaan; Laura Rita Rega; Reini En van der Welle; Marc R Lilien; Maarten B Rookmaaker; Hans Clevers; Judith Klumperman; Elena Levtchenko; Celia R Berkers; Marianne C Verhaar; Maarten Altelaar; Rosalinde Masereeuw; Manoe J Janssen
Journal:  EMBO Mol Med       Date:  2021-06-24       Impact factor: 12.137
  6 in total

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