Page last updated: 2024-10-27

gentamicin and Cystinosis

gentamicin has been researched along with Cystinosis in 3 studies

Gentamicins: A complex of closely related aminoglycosides obtained from MICROMONOSPORA purpurea and related species. They are broad-spectrum antibiotics, but may cause ear and kidney damage. They act to inhibit PROTEIN BIOSYNTHESIS.

Cystinosis: A metabolic disease characterized by the defective transport of CYSTINE across the lysosomal membrane due to mutation of a membrane protein cystinosin. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. In the KIDNEY, nephropathic cystinosis is a common cause of RENAL FANCONI SYNDROME.

Research Excerpts

ExcerptRelevanceReference
"Cystinosis is an ultrarare disorder caused by mutations of the cystinosin (CTNS) gene, encoding a cystine-selective efflux channel in the lysosomes of all cells of the body."3.91The aminoglycoside geneticin permits translational readthrough of the CTNS W138X nonsense mutation in fibroblasts from patients with nephropathic cystinosis. ( Brasell, EJ; Chu, L; El Kares, R; Goodyer, P; Iglesias, DM; Loesch, R; Seo, JH, 2019)

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's1 (33.33)29.6817
2010's2 (66.67)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Brasell, EJ1
Chu, L1
El Kares, R1
Seo, JH1
Loesch, R1
Iglesias, DM1
Goodyer, P1
Midgley, J1
Helip-Wooley, A1
Park, MA1
Lemons, RM1
Thoene, JG1

Other Studies

3 other studies available for gentamicin and Cystinosis

ArticleYear
The aminoglycoside geneticin permits translational readthrough of the CTNS W138X nonsense mutation in fibroblasts from patients with nephropathic cystinosis.
    Pediatric nephrology (Berlin, Germany), 2019, Volume: 34, Issue:5

    Topics: Amino Acid Transport Systems, Neutral; Codon, Nonsense; Cystine; Cystinosis; Fibroblasts; Genetic Ve

2019
A breakthrough in readthrough? Could geneticin lead the way to effective treatment for cystinosis nonsense mutations?
    Pediatric nephrology (Berlin, Germany), 2019, Volume: 34, Issue:5

    Topics: Amino Acid Transport Systems, Neutral; Aminoglycosides; Codon, Nonsense; Cystinosis; Fibroblasts; Ge

2019
Expression of CTNS alleles: subcellular localization and aminoglycoside correction in vitro.
    Molecular genetics and metabolism, 2002, Volume: 75, Issue:2

    Topics: Alleles; Amino Acid Transport Systems, Neutral; Aminoglycosides; Anti-Bacterial Agents; Cells, Cultu

2002