(Q36922753)

17 August 2017

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title

A review of the role of enhanced apoptosis in the pathophysiology of cystinosis (English)

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17 August 2017

Jess G Thoene

1

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17 August 2017

publication date

28 August 2007

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Molecular Genetics and Metabolism

17 August 2017

published in

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17 August 2017

volume

92

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17 August 2017

issue

4

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17 August 2017

page(s)

292-298

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A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis

17 August 2017

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Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin

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7 January 2021

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Elevated oxidized glutathione in cystinotic proximal tubular epithelial cells

7 January 2021

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

7 January 2021

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The intralysosomal pH in cultured human skin fibroblasts in relation to cystine accumulation in patients with cystinosis

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Cysteine/cystine couple is a newly recognized node in the circuitry for biologic redox signaling and control

7 January 2021

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7 January 2021

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7 January 2021

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Lysosomal cystine storage augments apoptosis in cultured human fibroblasts and renal tubular epithelial cells

7 January 2021

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7 January 2021

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Increased apoptosis in cystinotic fibroblasts and renal proximal tubule epithelial cells results from cysteinylation of protein kinase Cdelta.

7 January 2021

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7 January 2021

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7 January 2021

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PKC-δ is an apoptotic lamin kinase

7 January 2021

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7 January 2021

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Early development of the renal lesions in infantile cystinosis

7 January 2021

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Atubular glomeruli and glomerulotubular junction abnormalities in diabetic nephropathy

7 January 2021

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Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis

7 January 2021

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DAX1 and its network partners: exploring complexity in development

7 January 2021

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7 January 2021

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Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics

7 January 2021

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Consequences of complexity within biological networks: robustness and health, or vulnerability and disease

7 January 2021

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Monogenic traits are not simple: lessons from phenylketonuria

7 January 2021

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Renal failure in a sibship with late-onset cystinosis

7 January 2021

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10.1016/J.YMGME.2007.07.008

7 January 2021

Identifiers

DOI

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17 August 2017

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