Associated Papers
Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes.
Orlic-Milacic M et al.
Database : the Journal of Biological Databases and Curation, 2024
38713862 (PubMed )
Supplement: baae031_supp.zip › suppl_data › Database_Orlic_Milacic_Reactome_of_Disease_Variants_SupplementaryTable1.docx
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
Laboratory evaluation of homocysteine remethylation disorders and classic homocystinuria: Long-term follow-up using a cohort of 123 patients.
De Biase I et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2020
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
Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.
Komor AC et al.
Nature, 2016
27096365 (PubMed )
Supplement: NIHMS774092-supplement-1.pdf
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease
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
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
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.
Coelho D et al.
Nature Genetics, 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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