{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T16:02:33Z","timestamp":1785427353325,"version":"3.56.0"},"reference-count":20,"publisher":"American Society of Hematology","issue":"5","license":[{"start":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T00:00:00Z","timestamp":1779321600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2026,7,30]]},"abstract":"<jats:sec>\n                    <jats:title>Abstract<\/jats:title>\n                    <jats:p>We identified biallelic loss-of-function BPNT1 mutations in 3 patients with recurrent vitamin B12\u2013dependent megaloblastic anemia. Mechanistically, BPNT1 deficiency caused the accumulation of PAP (3\u2032-phosphoadenosine 5\u2032-phosphate), impaired ribosome biogenesis, and reduced ileal expression of the cubilin\/amnionless receptor complex in Bpnt1-null mice.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1182\/blood.2026033550","type":"journal-article","created":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T17:01:01Z","timestamp":1779382861000},"page":"634-638","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":0,"title":["Biallelic loss-of-function mutations in\n                    <i>BPNT1<\/i>\n                    cause vitamin B12\u2013dependent megaloblastic anemia"],"prefix":"10.1182","volume":"148","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2020-752X","authenticated-orcid":false,"given":"Yi-Heng","family":"Zeng","sequence":"first","affiliation":[{"name":"1Department of Neurology, Fujian Institute of Neurology, The First 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