Literature DB >> 31331465

Oh cystinosin: let me count the ways!

Craig B Langman1.   

Abstract

Nephropathic cystinosis is the most common genetic cause of a renal Fanconi syndrome and results from dysfunction of the lysosomal cystine-transporter protein cystinosin. The multiple organ dysfunctions of affected patients were thought to be related to the defective protein, with cystine crystal formation. However, such crystals were not always present when looked for. More recently, study of the biology of cystinosis has expanded to include many other cellular processes that may be pathogenic in the disease, and now galectin-3 can be added to those identified.
Copyright © 2019 International Society of Nephrology. Published by Elsevier Inc. All rights reserved.

Entities:  

Year:  2019        PMID: 31331465     DOI: 10.1016/j.kint.2019.05.016

Source DB:  PubMed          Journal:  Kidney Int        ISSN: 0085-2538            Impact factor:   10.612


  6 in total

1.  Distinct Modes of Balancing Glomerular Cell Proteostasis in Mucolipidosis Type II and III Prevent Proteinuria.

Authors:  Wiebke Sachs; Marlies Sachs; Elke Krüger; Stephanie Zielinski; Oliver Kretz; Tobias B Huber; Anke Baranowsky; Lena Marie Westermann; Renata Voltolini Velho; Nataniel Floriano Ludwig; Timur Alexander Yorgan; Giorgia Di Lorenzo; Katrin Kollmann; Thomas Braulke; Ida Vanessa Schwartz; Thorsten Schinke; Tatyana Danyukova; Sandra Pohl; Catherine Meyer-Schwesinger
Journal:  J Am Soc Nephrol       Date:  2020-07-08       Impact factor: 10.121

Review 2.  Adult complications of nephropathic cystinosis: a systematic review.

Authors:  Rachel Nora Kasimer; Craig B Langman
Journal:  Pediatr Nephrol       Date:  2020-02-03       Impact factor: 3.714

Review 3.  Bone Disease in Nephropathic Cystinosis: Beyond Renal Osteodystrophy.

Authors:  Irma Machuca-Gayet; Thomas Quinaux; Aurélia Bertholet-Thomas; Ségolène Gaillard; Débora Claramunt-Taberner; Cécile Acquaviva-Bourdain; Justine Bacchetta
Journal:  Int J Mol Sci       Date:  2020-04-28       Impact factor: 5.923

4.  Cysteamine bitartrate delayed-release capsules control leukocyte cystine levels and promote statural growth and kidney health in an open-label study of treatment-naïve patients <6 years of age with nephropathic cystinosis.

Authors:  Maria Helena Vaisbich; Juliana Caires Ferreira; Heather Price; Kyleen D Young; Saba Sile; Gregg Checani; Craig B Langman
Journal:  JIMD Rep       Date:  2021-11-01

Review 5.  Muscle and Bone Impairment in Infantile Nephropathic Cystinosis: New Concepts.

Authors:  Dieter Haffner; Maren Leifheit-Nestler; Candide Alioli; Justine Bacchetta
Journal:  Cells       Date:  2022-01-05       Impact factor: 6.600

Review 6.  Lysosome function in glomerular health and disease.

Authors:  Catherine Meyer-Schwesinger
Journal:  Cell Tissue Res       Date:  2021-01-12       Impact factor: 4.051

  6 in total

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