ribosome biogenesis

Unveiling BPNT1 Mutations as a Novel Cause of Vitamin B12-Dependent Megaloblastic Anemia

Biallelic loss-of-function mutations in BPNT1 are identified as a new genetic cause of vitamin B12-dependent megaloblastic anemia, linked to disrupted ribosome biogenesis and impaired ileal vitamin B12 absorption in mouse models.