Gene surgery as a potential treatment option for Nephropathic Cystinosis in vitro
bioRxiv, 2023 E. Sendino Garví +8 more
semanticscholar +1 more source
Residual cystine transport activity for specific infantile and juvenile CTNS mutations in a PTEC-based addback model [PDF]
Cystinosis is a rare, autosomal recessive, lysosomal storage disease caused by mutations in the gene CTNS, leading to cystine accumulation in the lysosomes.
David, Dries +5 more
core +1 more source
Impaired Activity of the γ-Glutamyl Cycle in Nephropathic Cystinosis Fibroblasts [PDF]
, 2006 L. Mannucci +5 more
openalex +1 more source
OR6-005 – Cystine crystals activate inflammasomes [PDF]
, 2013 F De Benedetti +5 more
core +1 more source
Evaluation of topical cysteamine therapy in the CTNS−/− knockout mouse using in vivo confocal microscopy [PDF]
, 2011 PurposeThe purpose of this study was to assess the ability of quantitative in vivo confocal microscopy (CM) to detect changes in cystine crystal volume in the cystinosisn (Ctns−/−)mouse cornea following topical cysteamine therapy.MethodsFifteen Ctns ...
Flynn, Kevin J. +3 more
core +1 more source
Cognition in nephropathic cystinosis: Pattern of expression in heterozygous carriers [PDF]
, 2012 Stephen Niemiec +2 more
openalex +1 more source
Cystinosin deficient rats recapitulate the phenotype of nephropathic cystinosis [PDF]
, 2021 Jennifer A. Hollywood +9 more
openalex +1 more source
Behavioral profiles of children with infantile nephropathic cystinosis [PDF]
, 2005 Gustavo Delgado +4 more
openalex +1 more source
Mitochondrial Autophagy Promotes Cellular Injury in Nephropathic Cystinosis [PDF]
, 2009 Poonam Sansanwal +6 more
openalex +1 more source
Benefits and Toxicity of Disulfiram in Preclinical Models of Nephropathic Cystinosis. [PDF]
Cells, 2021 Taranta A +19 more
europepmc +1 more source