277 related articles for article (PubMed ID: 28572511)
1. Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B
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
J Biol Chem; 2017 Jul; 292(28):11980-11991. PubMed ID: 28572511
[TBL] [Abstract][Full Text] [Related]
2. Purification and interaction analyses of two human lysosomal vitamin B12 transporters: LMBD1 and ABCD4.
Deme JC; Hancock MA; Xia X; Shintre CA; Plesa M; Kim JC; Carpenter EP; Rosenblatt DS; Coulton JW
Mol Membr Biol; 2014; 31(7-8):250-61. PubMed ID: 25535791
[TBL] [Abstract][Full Text] [Related]
3. The lysosomal protein ABCD4 can transport vitamin B
Kitai K; Kawaguchi K; Tomohiro T; Morita M; So T; Imanaka T
J Biol Chem; 2021; 296():100654. PubMed ID: 33845046
[TBL] [Abstract][Full Text] [Related]
4. Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.
Coelho D; Kim JC; Miousse IR; Fung S; du Moulin M; Buers I; Suormala T; Burda P; Frapolli M; Stucki M; Nürnberg P; Thiele H; Robenek H; Höhne W; Longo N; Pasquali M; Mengel E; Watkins D; Shoubridge EA; Majewski J; Rosenblatt DS; Fowler B; Rutsch F; Baumgartner MR
Nat Genet; 2012 Oct; 44(10):1152-5. PubMed ID: 22922874
[TBL] [Abstract][Full Text] [Related]
5. Translocation of the ABC transporter ABCD4 from the endoplasmic reticulum to lysosomes requires the escort protein LMBD1.
Kawaguchi K; Okamoto T; Morita M; Imanaka T
Sci Rep; 2016 Jul; 6():30183. PubMed ID: 27456980
[TBL] [Abstract][Full Text] [Related]
6. Insights into lysosomal cobalamin trafficking: lessons learned from cblF disease.
Gailus S; Höhne W; Gasnier B; Nürnberg P; Fowler B; Rutsch F
J Mol Med (Berl); 2010 May; 88(5):459-66. PubMed ID: 20174775
[TBL] [Abstract][Full Text] [Related]
7. Identification of ABC transporters acting in vitamin B
McDonald MK; Fritz JA; Jia D; Scheuchner D; Snyder FF; Stanislaus A; Curle J; Li L; Stabler SP; Allen RH; Mains PE; Gravel RA
Mol Genet Metab; 2017 Dec; 122(4):160-171. PubMed ID: 29153845
[TBL] [Abstract][Full Text] [Related]
8. 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; Lee NC; Hwu PW; Chien YH; Fahiminiya S; Majewski J; Watkins D; Rosenblatt DS
Mol Genet Metab; 2012 Dec; 107(4):664-8. PubMed ID: 23141461
[TBL] [Abstract][Full Text] [Related]
9. Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism.
Rutsch F; Gailus S; Miousse IR; Suormala T; Sagné C; Toliat MR; Nürnberg G; Wittkampf T; Buers I; Sharifi A; Stucki M; Becker C; Baumgartner M; Robenek H; Marquardt T; Höhne W; Gasnier B; Rosenblatt DS; Fowler B; Nürnberg P
Nat Genet; 2009 Feb; 41(2):234-9. PubMed ID: 19136951
[TBL] [Abstract][Full Text] [Related]
10. A novel mutation in LMBRD1 causes the cblF defect of vitamin B(12) metabolism in a Turkish patient.
Gailus S; Suormala T; Malerczyk-Aktas AG; Toliat MR; Wittkampf T; Stucki M; Nürnberg P; Fowler B; Hennermann JB; Rutsch F
J Inherit Metab Dis; 2010 Feb; 33(1):17-24. PubMed ID: 20127417
[TBL] [Abstract][Full Text] [Related]
11. Lysosomal cobalamin accumulation in fibroblasts from a patient with an inborn error of cobalamin metabolism (cblF complementation group): visualization by electron microscope radioautography.
Vassiliadis A; Rosenblatt DS; Cooper BA; Bergeron JJ
Exp Cell Res; 1991 Aug; 195(2):295-302. PubMed ID: 2070814
[TBL] [Abstract][Full Text] [Related]
12. Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin-Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional Activator.
Pupavac M; Watkins D; Petrella F; Fahiminiya S; Janer A; Cheung W; Gingras AC; Pastinen T; Muenzer J; Majewski J; Shoubridge EA; Rosenblatt DS
Hum Mutat; 2016 Sep; 37(9):976-82. PubMed ID: 27349184
[TBL] [Abstract][Full Text] [Related]
13. Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course.
Pillai NR; Miller D; Pierpont EI; Berry SA; Aggarwal A
Am J Med Genet A; 2021 Jun; 185(6):1870-1874. PubMed ID: 33729671
[TBL] [Abstract][Full Text] [Related]
14. Genetic defects of folate and cobalamin metabolism.
Fowler B
Eur J Pediatr; 1998 Apr; 157 Suppl 2():S60-6. PubMed ID: 9587028
[TBL] [Abstract][Full Text] [Related]
15. A patient with an inborn error of vitamin B12 metabolism (cblF) detected by newborn screening.
Armour CM; Brebner A; Watkins D; Geraghty MT; Chan A; Rosenblatt DS
Pediatrics; 2013 Jul; 132(1):e257-61. PubMed ID: 23776111
[TBL] [Abstract][Full Text] [Related]
16. Structural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B12 Trafficking.
Froese DS; Kopec J; Fitzpatrick F; Schuller M; McCorvie TJ; Chalk R; Plessl T; Fettelschoss V; Fowler B; Baumgartner MR; Yue WW
J Biol Chem; 2015 Dec; 290(49):29167-77. PubMed ID: 26483544
[TBL] [Abstract][Full Text] [Related]
17. Progressive hyperpigmentation in a Taiwanese child due to an inborn error of vitamin B12 metabolism (cblJ).
Takeichi T; Hsu CK; Yang HS; Chen HY; Wong TW; Tsai WL; Chao SC; Lee JY; Akiyama M; Simpson MA; McGrath JA
Br J Dermatol; 2015 Apr; 172(4):1111-5. PubMed ID: 25234635
[TBL] [Abstract][Full Text] [Related]
18. Novel splice site mutations and a large deletion in three patients with the cblF inborn error of vitamin B12 metabolism.
Miousse IR; Watkins D; Rosenblatt DS
Mol Genet Metab; 2011 Apr; 102(4):505-7. PubMed ID: 21303734
[TBL] [Abstract][Full Text] [Related]
19. 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
J Hum Genet; 2019 Apr; 64(4):305-312. PubMed ID: 30651581
[TBL] [Abstract][Full Text] [Related]
20. Mitochondrial vitamin B12-binding proteins in patients with inborn errors of cobalamin metabolism.
Moras E; Hosack A; Watkins D; Rosenblatt DS
Mol Genet Metab; 2007 Feb; 90(2):140-7. PubMed ID: 17011224
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]