ABCMdb

ABCB7 p.Val411Leu

[switch to full view]
Comments [show]

None has been submitted yet.

Publications

PMID: 22884976 [PubMed] Liesa M et al: "Mitochondrial ABC transporters function: the role of ABCB10 (ABC-me) as a novel player in cellular handling of reactive oxygen species."

No. Sentence Comment

96 The heritage family study shows that the amino acid change of E433K at the C-terminal of the sixth TMD [9,70] or V411L at the beginning of the sixth TMD in ABCB7 is sufficient to cause XLSA/A [56]. Login to comment

PMID: 22398176 [PubMed] D'Hooghe M et al: "X-linked sideroblastic anemia and ataxia: A new family with identification of a fourth ABCB7 gene mutation."

No. Sentence Comment

195 Maguire A, Hellier K, Hammans S, May A. X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L. Login to comment
194 Maguire A, Hellier K, Hammans S, May A. X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L. Login to comment

PMID: 21464130 [PubMed] Gonzalez-Cabo P et al: "Disruption of the ATP-binding cassette B7 (ABTM-1/ABCB7) induces oxidative stress and premature cell death in Caenorhabditis elegans."

No. Sentence Comment

20 Two of these are missense mutations, which cause the substitution of residues within the ABCB7 transmembrane domains: V411L (4) and I400M (2). Login to comment

PMID: 20481466 [PubMed] Ye H et al: "Human iron-sulfur cluster assembly, cellular iron homeostasis, and disease."

No. Sentence Comment

228 In the third family, the affected brothers have a G-to-C transition at position 1299, which predicts a V411L substitution in the sixth putative transmembrane domain (86). Login to comment
229 In the third family, the affected brothers have a G-to-C transition at position 1299, which predicts a V411L substitution in the sixth putative transmembrane domain (86). Login to comment

PMID: 18637800 [PubMed] Camaschella C et al: "Recent advances in the understanding of inherited sideroblastic anaemia."

No. Sentence Comment

132 The missense mutations (Ile400 Met Glu 433Lys, Val 411Leu) reported in patients are unable to rescue the Atm1p-deficient phenotype, indicating that they are partial loss of function mutations (reviewed in Fleming, 2002). Login to comment

PMID: 17192393 [PubMed] Cavadini P et al: "RNA silencing of the mitochondrial ABCB7 transporter in HeLa cells causes an iron-deficient phenotype with mitochondrial iron overload."

No. Sentence Comment

15 They consist of missense mutations (I400M, E433K, and V411L) at the border of putative transmembrane domains of the protein and were found to rescue only partially the defects of Atm1p-deficient yeasts.6 A study on erythroid cells showed that ABCB7 expression increases the activity of ferrochelatase by binding to its C-terminus.21 The recent study of mice deficient in ABCB7 showed that the protein is essential in early gestation. Login to comment
13 (c) 2007 by The American Society of Hematology 3552 They consist of missense mutations (I400M, E433K, and V411L) at the border of putative transmembrane domains of the protein and were found to rescue only partially the defects of Atm1p-deficient yeasts.6 A study on erythroid cells showed that ABCB7 expression increases the activity of ferrochelatase by binding to its C-terminus.21 The recent study of mice deficient in ABCB7 showed that the protein is essential in early gestation. Login to comment

PMID: 11843825 [PubMed] Maguire A et al: "X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L."

No. Sentence Comment

0 910 q 2001 Blackwell Science Ltd X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L Andrew Maguire,1 Kate Hellier,2 Simon Hammans2 and Alison May1 1 Department of Haematology, University of Wales College of Medicine, Cardiff, and 2 Wessex Neurological Centre, Southampton General Hospital, Southampton, UK Received 7 February 2001; accepted for publication 16 May 2001 Summary. Login to comment
9 This predicts a V411L substitution at the beginning of the last of six putative transmembrane regions of the protein. Login to comment
109 Identification of a novel family specific mutation A family specific missense mutation, G1299C in the cDNA, predicting an amino acid residue change from valine to leucine (V411L), was found. Login to comment
134 In our family we demonstrated a third mutation (cDNA: G1299C predicting V411L) in exon 9 of the ABC7 transporter gene, further strengthening the link between ABC7 and XLSA/A. Login to comment

PMID: 24604199 [PubMed] Srinivasan V et al: "Crystal structures of nucleotide-free and glutathione-bound mitochondrial ABC transporter Atm1."

No. Sentence Comment

91 Three of the XLSA/A patient mutations are located in the membrane domain either on the matrix [E208D in long TM2 helix; yeast E173 (29)] or intermembrane space sides (I400M between TM5 and TM6, yeast V365 (26); V411L in TM6, yeast V376 (28)] (Fig. 2A and fig. S1A). Login to comment

PMID: 26099175 [PubMed] Lill R et al: "The role of mitochondria and the CIA machinery in the maturation of cytosolic and nuclear iron-sulfur proteins."

No. Sentence Comment

301 All mutated residues are located in the membrane domain either on the matrix (E208D in long TM2 helix; yeast E173 D`Hooghe et al., 2012) or intermembrane space sides (I400M between TM5-TM6, yeast V365 (Allikmets et al., 1999); V411L in TM6, yeast V376 (Maguire et al., 2001) (Fig. 4). Login to comment