Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B(12)-trafficking proteins ABCD4 and LMBD1

Vitamin B(12) (cobalamin (Cbl)), in the cofactor forms methyl-Cbl and adenosyl-Cbl, is required for the function of the essential enzymes methionine synthase and methylmalonyl-CoA mutase, respectively. Cbl enters mammalian cells by receptor-mediated endocytosis of protein-bound Cbl followed by lysos...

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Dades bibliogràfiques
Publicat a:J Biol Chem
Autors principals: Fettelschoss, Victoria, Burda, Patricie, Sagné, Corinne, Coelho, David, De Laet, Corinne, Lutz, Seraina, Suormala, Terttu, Fowler, Brian, Pietrancosta, Nicolas, Gasnier, Bruno, Bornhauser, Beat, Froese, D. Sean, Baumgartner, Matthias R.
Format: Artigo
Idioma:Inglês
Publicat: American Society for Biochemistry and Molecular Biology 2017
Matèries:
Molecular Bases of Disease
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5512089/
https://ncbi.nlm.nih.gov/pubmed/28572511
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M117.784819
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