Associated Papers
Cobalamin J Disorder in a Teenage Boy with Recurrent Abdominal Pain Attacks: A Case Report and Literature Review.
Aslan D et al.
Molecular Syndromology, 2025
Transmembrane helix 6 of ABCD4 is indispensable for cobalamin transport.
Imai M et al.
Journal of Inherited Metabolic Disease, 2024
Substrate Specificity and the Direction of Transport in the ABC Transporters ABCD1-3 and ABCD4.
Kawaguchi K et al.
Chemical & Pharmaceutical Bulletin, 2022
Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course.
Pillai NR et al.
American Journal of Medical Genetics. Part A, 2021
Cryo-EM structure of human lysosomal cobalamin exporter ABCD4.
Xu D et al.
Cell Research, 2019
Patients with cobalamin G or J defect missed by the current newborn screening program: diagnosis and novel mutations.
Liu Y et al.
Journal of Human Genetics, 2019
Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B12-trafficking proteins ABCD4 and LMBD1.
Fettelschoss V et al.
The Journal of Biological Chemistry, 2017
The lysosomal protein ABCD4 can transport vitamin B12 across liposomal membranes in vitro.
Kitai K et al.
The Journal of Biological Chemistry, 0
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