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27 results

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Page 1
Mitochondrial ABC transporters.
Lill R, Kispal G. Lill R, et al. Res Microbiol. 2001 Apr-May;152(3-4):331-40. doi: 10.1016/s0923-2508(01)01204-9. Res Microbiol. 2001. PMID: 11421280 Free article. Review.
Mutations in ABC7 are causative of hereditary X-linked sideroblastic anemia and cerebellar ataxia (XLSA/A). MTABC3 may be a candidate gene for the lethal neonatal syndrome. ...
Mutations in ABC7 are causative of hereditary X-linked sideroblastic anemia and cerebellar ataxia (XLSA/A …
The genetics of inherited sideroblastic anemias.
Fleming MD. Fleming MD. Semin Hematol. 2002 Oct;39(4):270-81. doi: 10.1053/shem.2002.35637. Semin Hematol. 2002. PMID: 12382202 Review.
While the pathogenesis of almost all cases of acquired sideroblastic anemia is unknown, the molecular genetic basis for several of the inherited forms have now been described. Initially, mutations in ALAS2 in X-linked sideroblastic anemia …
While the pathogenesis of almost all cases of acquired sideroblastic anemia is unknown, the molecular genetic basis for severa …
Hereditary Ataxia: A Focus on Heme Metabolism and Fe-S Cluster Biogenesis.
Chiabrando D, Bertino F, Tolosano E. Chiabrando D, et al. Int J Mol Sci. 2020 May 26;21(11):3760. doi: 10.3390/ijms21113760. Int J Mol Sci. 2020. PMID: 32466579 Free PMC article. Review.
Mutations in genes involved in heme metabolism and Fe-S cluster biogenesis cause different forms of ataxia, like posterior column ataxia and retinitis pigmentosa (PCARP), Friedreich's ataxia (FRDA) and X-linked sideroblastic anemia …
Mutations in genes involved in heme metabolism and Fe-S cluster biogenesis cause different forms of ataxia, like posterior column …
Mitochondria in hematopoiesis and hematological diseases.
Fontenay M, Cathelin S, Amiot M, Gyan E, Solary E. Fontenay M, et al. Oncogene. 2006 Aug 7;25(34):4757-67. doi: 10.1038/sj.onc.1209606. Oncogene. 2006. PMID: 16892088 Review.
Mutations in the specific delta-aminolevulinic acid synthase (ALAS) 2 isoform that catalyses the first and rate-limiting step in heme synthesis pathway in the mitochondrial matrix, lead to ineffective erythropoiesis that characterizes X-linked sideroblastic …
Mutations in the specific delta-aminolevulinic acid synthase (ALAS) 2 isoform that catalyses the first and rate-limiting step in heme synthe …
X-linked sideroblastic anemia and ataxia: linkage to phosphoglycerate kinase at Xq13.
Raskind WH, Wijsman E, Pagon RA, Cox TC, Bawden MJ, May BK, Bird TD. Raskind WH, et al. Am J Hum Genet. 1991 Feb;48(2):335-41. Am J Hum Genet. 1991. PMID: 1671320 Free PMC article.
Molecular linkage analysis was performed on a kindred with X-linked sideroblastic anemia and ataxia. Two-point analysis with a DNA probe for phosphoglycerate kinase (PGK1), which maps to Xq13, suggested linkage to the disorder by a lod score of …
Molecular linkage analysis was performed on a kindred with X-linked sideroblastic anemia and ataxia. Two- …
Cryo-EM structure of AMP-PNP-bound human mitochondrial ATP-binding cassette transporter ABCB7.
Yan Q, Shen Y, Yang X. Yan Q, et al. J Struct Biol. 2022 Mar;214(1):107832. doi: 10.1016/j.jsb.2022.107832. Epub 2022 Jan 15. J Struct Biol. 2022. PMID: 35041979
Moreover, four disease-causing missense mutations of human ABCB7 have been mapped to the structure, creating a hotspot map for X-linked sideroblastic anemia and ataxia disease. Our results provide a structural basis for further understanding the …
Moreover, four disease-causing missense mutations of human ABCB7 have been mapped to the structure, creating a hotspot map for X-l …
Spinocerebellar ataxias due to mitochondrial defects.
Kaplan J. Kaplan J. Neurochem Int. 2002 May;40(6):553-7. doi: 10.1016/s0197-0186(01)00127-9. Neurochem Int. 2002. PMID: 11850112 Review.
A number of ataxias have been shown to result from defects in mitochondrial function. The genes responsible for Friedreich ataxia (FRDA) and for X-linked sideroblastic anemia with ataxia are nuclear genes that encode mitochondrial protein …
A number of ataxias have been shown to result from defects in mitochondrial function. The genes responsible for Friedreich ataxia (FR …
Abcb7, the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis.
Pondarre C, Campagna DR, Antiochos B, Sikorski L, Mulhern H, Fleming MD. Pondarre C, et al. Blood. 2007 Apr 15;109(8):3567-9. doi: 10.1182/blood-2006-04-015768. Epub 2006 Dec 27. Blood. 2007. PMID: 17192398 Free PMC article.
X-linked sideroblastic anemia with ataxia (XLSA/A) is a rare syndromic form of inherited sideroblastic anemia associated with spinocerebellar ataxia, and is due to mutations in the mitochondrial ATP-binding cassette transpor …
X-linked sideroblastic anemia with ataxia (XLSA/A) is a rare syndromic form of inherited sideroblastic …
Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation.
Bekri S, Kispal G, Lange H, Fitzsimons E, Tolmie J, Lill R, Bishop DF. Bekri S, et al. Blood. 2000 Nov 1;96(9):3256-64. Blood. 2000. PMID: 11050011 Free article.
Previously, a missense mutation in the human ABC7 gene was shown to be the defect in members of a family affected with X-linked sideroblastic anemia with cerebellar ataxia (XLSA/A). Here, the promoter region and the intron/exon structure of the …
Previously, a missense mutation in the human ABC7 gene was shown to be the defect in members of a family affected with X-linked …
The human ATP-binding cassette transporter genes: from the bench to the bedside.
Efferth T. Efferth T. Curr Mol Med. 2001 Mar;1(1):45-65. doi: 10.2174/1566524013364194. Curr Mol Med. 2001. PMID: 11899242 Review.
Many ABC transporters are involved in human inherited or sporadic diseases such as cystic fibrosis, adrenoleukodystrophy, Stargardt's disease, drug-resistant tumors, Dubin-Johnson syndrome, Byler's disease, progressive familiar intrahepatic cholestasis, X-linked …
Many ABC transporters are involved in human inherited or sporadic diseases such as cystic fibrosis, adrenoleukodystrophy, Stargardt's diseas …
27 results