PubMed for id: 1216866519

Year	Number of Results
1993	1
1997	2
1998	2
2008	1
2017	1
2019	2
2021	3
2024	0

1

The lysosomal protein ABCD4 can transport vitamin B₁₂ across liposomal membranes in vitro.

Kitai K, Kawaguchi K, Tomohiro T, Morita M, So T, Imanaka T. Kitai K, et al. J Biol Chem. 2021 Jan-Jun;296:100654. doi: 10.1016/j.jbc.2021.100654. Epub 2021 May 3. J Biol Chem. 2021. PMID: 33845046 Free PMC article.

2

Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course.

Pillai NR, Miller D, Pierpont EI, Berry SA, Aggarwal A. Pillai NR, et al. Am J Med Genet A. 2021 Jun;185(6):1870-1874. doi: 10.1002/ajmg.a.62170. Epub 2021 Mar 17. Am J Med Genet A. 2021. PMID: 33729671

3

Cryo-EM structure of human lysosomal cobalamin exporter ABCD4.

Xu D, Feng Z, Hou WT, Jiang YL, Wang L, Sun L, Zhou CZ, Chen Y. Xu D, et al. Cell Res. 2019 Dec;29(12):1039-1041. doi: 10.1038/s41422-019-0222-z. Epub 2019 Aug 29. Cell Res. 2019. PMID: 31467407 Free PMC article. No abstract available.

4

Patients with cobalamin G or J defect missed by the current newborn screening program: diagnosis and novel mutations.

Liu Y, Kang L, Li D, Jin Y, Song J, Li H, Wang J, Yang Y. Liu Y, et al. J Hum Genet. 2019 Apr;64(4):305-312. doi: 10.1038/s10038-018-0557-1. Epub 2019 Jan 16. J Hum Genet. 2019. PMID: 30651581

5

Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B₁₂-trafficking proteins ABCD4 and LMBD1.

Fettelschoss V, Burda P, Sagné C, Coelho D, De Laet C, Lutz S, Suormala T, Fowler B, Pietrancosta N, Gasnier B, Bornhauser B, Froese DS, Baumgartner MR. Fettelschoss V, et al. J Biol Chem. 2017 Jul 14;292(28):11980-11991. doi: 10.1074/jbc.M117.784819. Epub 2017 Jun 1. J Biol Chem. 2017. PMID: 28572511 Free PMC article.

6

Disorders of Intracellular Cobalamin Metabolism.

Sloan JL, Carrillo N, Adams D, Venditti CP. Sloan JL, et al. 2008 Feb 25 [updated 2021 Dec 16]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2008 Feb 25 [updated 2021 Dec 16]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301503 Free Books & Documents. Review.

7

Genomic organization and chromosomal localization of the human peroxisomal membrane protein-1-like protein (PXMP1-L) gene encoding a peroxisomal ABC transporter.

Holzinger A, Roscher AA, Landgraf P, Lichtner P, Kammerer S. Holzinger A, et al. FEBS Lett. 1998 Apr 17;426(2):238-42. doi: 10.1016/s0014-5793(98)00354-8. FEBS Lett. 1998. PMID: 9599016 Free article.

8

Genomic organization of the 70-kDa peroxisomal membrane protein gene (PXMP1).

Gärtner J, Jimenez-Sanchez G, Roerig P, Valle D. Gärtner J, et al. Genomics. 1998 Mar 1;48(2):203-8. doi: 10.1006/geno.1997.5177. Genomics. 1998. PMID: 9521874 Free article.

9

Identification of a fourth half ABC transporter in the human peroxisomal membrane.

Shani N, Jimenez-Sanchez G, Steel G, Dean M, Valle D. Shani N, et al. Hum Mol Genet. 1997 Oct;6(11):1925-31. doi: 10.1093/hmg/6.11.1925. Hum Mol Genet. 1997. PMID: 9302272

10

Primary structure of human PMP69, a putative peroxisomal ABC-transporter.

Holzinger A, Kammerer S, Roscher AA. Holzinger A, et al. Biochem Biophys Res Commun. 1997 Aug 8;237(1):152-7. doi: 10.1006/bbrc.1997.7102. Biochem Biophys Res Commun. 1997. PMID: 9266848

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