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
Intronic hexanucleotide repeat expansion in TYMS in monozygotic twins with congenital progressive universal melanosis.
Kanchanasutthiyakorn S et al.
Biomedical Reports, 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
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
ABC Transporter Subfamily D: Distinct Differences in Behavior between ABCD1-3 and ABCD4 in Subcellular Localization, Function, and Human Disease.
Kawaguchi K et al.
Biomed Research International, 2016
Progressive hyperpigmentation in a Taiwanese child due to an inborn error of vitamin B12 metabolism (cblJ).
Takeichi T et al.
The British Journal of Dermatology, 2015
Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: diagnosis and novel mutation revealed by exome sequencing.
Kim JC et al.
Molecular Genetics and Metabolism, 2012
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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