Nonetheless, hypoxia-induced stabilization of HIF is essential for intestinal homeostasis owing to its regulatory role in the transcription of barrier-protective genes, mucin secretion, antimicrobial peptide synthesis, nucleotide signaling, iron metabolism, and metabolic genes including hexokinase, lactate dehydrogenase, pyruvate kinase, aldolase, phosphofructokinase, and phosphoglycerate kinase, among others 73,80
The relatively low AUC of 0.64 for patient/carrier comparisons likely reflects overlap in age distribution, with many carriers already within the disease onset window, Supplemental Information Fig
It helps optimize the activity of immune cells, such as lymphocytes and macrophages, allowing them to combat infections and foreign invaders effectively
Inhibition of this enzyme can lead to pellagra, which, in these cases, may present with cerebellar signs, myoclonus, and ataxia (55)