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Diabetologia 49 , 20492057, (2006)

When the peptide was presented at 2 months in the mice, it appeared to decrease the chromosomal aberrations in all three models, the highest being in the SAMP-1 mice with accelerated cell aging

While myopathic manifestations are also found in other types of L-carnitine deficiency, e.g., SLC22A5 -related carnitine transporter deficiency, additional neurodevelopmental and psychiatric manifestations seem to be specifically related to BBOX1 deficiency

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45,210 The UPR engages one or more of the three principal sensors embedded in the ER membrane, including activating transcription factor 6 (ATF6), inositol-requiring protein 1 (IRE1) and , and protein kinase RNA (PKR)-like ER kinase (PERK)