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Caspase-4 May Play a Role in Loss of Proximal Tubules and Renal Injury in Nephropathic Cystinosis

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Results Genetic variants and mutations are the potential risk factors contributing to AIF3 splicing in human brain with mitochondrial disorders To determine whether AIF3 splicing is induced in the postmortem frontal cortex tissues from pediatric individuals with mitochondrial disorders (Table S1), we performed PCR with primers specifically binding to the AIF3 splicing junction sequence (hAIF-Fw2E1/4, Key Resources Table), and detected AIF3 mRNA in all seven patients but not their age-matched controls (Fig

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Explant weights and histology were obtained from pathology reports