Add to ORKGCystinosis, a main cause of Fanconi syndrome, is reproduced in congenic C57BL/6 cystinosin knockout (KO)mice. To identify the sequence of pathogenic and adaptationmechanisms of nephropathic cystinosis, we defined the onset of Fanconi syndrome in KO mice between 3 and 6 months of age and analyzed the correlation with structural and functional changes in proximal tubular cells (PTCs), with focus on endocytosis of ultrafiltrated disulfide-rich proteins as a key source of cystine. Despite considerable variation between mice at the same age, typical event sequences were delineated. At the cellular level, amorphous lysosomal inclusions preceded cystine crystals and eventual atrophy without crystals. At the nephron level, lesions started at the gl...
Nephropathic cystinosis is an autosomal recessive lysosomal storage disease characterized by the acc...
Nephropathic cystinosis is a rare lysosomal storage disorder caused by mutations in the CTNS gene, w...
Cystinuria is an autosomal recessive disease caused by the mutation of either SLC3A1 gene encoding f...
Cystinosis, a main cause of Fanconi syndrome, is reproduced in congenic C57BL/6 cystinosin knockout ...
Cystinosis, a main cause of Fanconi syndrome, is reproduced in congenic C57BL/6 cystinosin knockout ...
BACKGROUND: Deletions or inactivating mutations of the cystinosin gene CTNS lead to cystine accumula...
Cystinosis is an autosomal recessive metabolic disease that belongs to the family of lysosomal stora...
Nephropathic cystinosis is a multisystemic lysosomal storage disease due to genetic absence of funct...
Cystinosis is a lysosomal transport disorder characterized by an intra-lysosomal accumulation of cys...
Nephropathic cystinosis, a lysosomal storage disease caused by mutations in the CTNS gene encoding t...
imal tubules are highly sensitive to ischemic and toxic insults and are affected in diverse genetic ...
Background. Cystinosis is caused by mutations in CTNS that encodes cystinosin, the lysosomal cystine...
International audienceRenal Fanconi syndrome (FS) is a generalized dysfunction of proximal tubular e...
Nephropathic cystinosis is a rare lysosomal storage disorder caused by mutations in the CTNS gene, w...
Renal proximal tubules are highly sensitive to ischemic and toxic insults and are affected in divers...
Nephropathic cystinosis is an autosomal recessive lysosomal storage disease characterized by the acc...
Nephropathic cystinosis is a rare lysosomal storage disorder caused by mutations in the CTNS gene, w...
Cystinuria is an autosomal recessive disease caused by the mutation of either SLC3A1 gene encoding f...
Cystinosis, a main cause of Fanconi syndrome, is reproduced in congenic C57BL/6 cystinosin knockout ...
Cystinosis, a main cause of Fanconi syndrome, is reproduced in congenic C57BL/6 cystinosin knockout ...
BACKGROUND: Deletions or inactivating mutations of the cystinosin gene CTNS lead to cystine accumula...
Cystinosis is an autosomal recessive metabolic disease that belongs to the family of lysosomal stora...
Nephropathic cystinosis is a multisystemic lysosomal storage disease due to genetic absence of funct...
Cystinosis is a lysosomal transport disorder characterized by an intra-lysosomal accumulation of cys...
Nephropathic cystinosis, a lysosomal storage disease caused by mutations in the CTNS gene encoding t...
imal tubules are highly sensitive to ischemic and toxic insults and are affected in diverse genetic ...
Background. Cystinosis is caused by mutations in CTNS that encodes cystinosin, the lysosomal cystine...
International audienceRenal Fanconi syndrome (FS) is a generalized dysfunction of proximal tubular e...
Nephropathic cystinosis is a rare lysosomal storage disorder caused by mutations in the CTNS gene, w...
Renal proximal tubules are highly sensitive to ischemic and toxic insults and are affected in divers...
Nephropathic cystinosis is an autosomal recessive lysosomal storage disease characterized by the acc...
Nephropathic cystinosis is a rare lysosomal storage disorder caused by mutations in the CTNS gene, w...
Cystinuria is an autosomal recessive disease caused by the mutation of either SLC3A1 gene encoding f...