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  5. Cystin transport- protein defect...

Cystin transport- protein defect of

December 31, 2014

Latest Research

  • A case of cystinuria presenting with cerebellar ataxia and dementia
  • A futile cycle, formed between two ATP-dependant gamma-glutamyl cycle enzymes, gamma-glutamyl cysteine synthetase and 5-oxoprolinase: the cause of cellular ATP depletion in nephrotic cystinosis?
  • A mouse model suggests two mechanisms for thyroid alterations in infantile cystinosis: decreased thyroglobulin synthesis due to endoplasmic reticulum stress/unfolded protein response and impaired lysosomal processing
  • A Novel Mutation in SLC3A1 Gene in Patients With Cystinuria
  • Activation of the transcription factor EB rescues lysosomal abnormalities in cystinotic kidney cells
More Research
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