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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 …
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 …
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 (XLSA) focuse …
While the pathogenesis of almost all cases of acquired sideroblastic anemia is unknown, the molecular genetic basis for several of the inher …
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 …
A number of ataxias have been shown to result from defects in mitochondrial function. The genes responsible for Friedreich ataxia …
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 …
Genetic disorders affecting proteins of iron metabolism: clinical implications.
Sheth S, Brittenham GM. Sheth S, et al. Annu Rev Med. 2000;51:443-64. doi: 10.1146/annurev.med.51.1.443. Annu Rev Med. 2000. PMID: 10774476 Review.
This chapter considers the most common inherited disorder in individuals of European ancestry (hereditary hemochromatosis), a widespread disease in sub-Saharan populations for which the genetic basis is still uncertain (African dietary iron overload), and several less frequent or …
This chapter considers the most common inherited disorder in individuals of European ancestry (hereditary hemochromatosis), a widespread dis …
Iron redistribution as a therapeutic strategy for treating diseases of localized iron accumulation.
Kakhlon O, Breuer W, Munnich A, Cabantchik ZI. Kakhlon O, et al. Can J Physiol Pharmacol. 2010 Mar;88(3):187-96. doi: 10.1139/Y09-128. Can J Physiol Pharmacol. 2010. PMID: 20393584 Review.
Iron concentrations can rise to toxic levels in mitochondria of excitable cells, often leaving the cytosol iron-depleted, in some forms of neurodegeneration with brain accumulation (NBIA) or following mutations in genes associated with mitochondrial functions, such as ABCB7 in …
Iron concentrations can rise to toxic levels in mitochondria of excitable cells, often leaving the cytosol iron-depleted, in some forms of n …
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 …
Iron trafficking in the mitochondrion: novel pathways revealed by disease.
Napier I, Ponka P, Richardson DR. Napier I, et al. Blood. 2005 Mar 1;105(5):1867-74. doi: 10.1182/blood-2004-10-3856. Epub 2004 Nov 4. Blood. 2005. PMID: 15528311 Free article. Review.
In particular, studies assessing various diseases leading to mitochondrial Fe loading have produced intriguing findings. For instance, the disease X-linked sideroblastic anemia with ataxia (XLSA/A) is due to a mutation in the ATP-binding cassett …
In particular, studies assessing various diseases leading to mitochondrial Fe loading have produced intriguing findings. For instance, the d …
[Genetics of hereditary iron overload].
Le Gall JY, Jouanolle AM, Fergelot P, Mosser J, David V. Le Gall JY, et al. Bull Acad Natl Med. 2004;188(2):247-62; discussion 262-3. Bull Acad Natl Med. 2004. PMID: 15506716 Review. French.
Other genetic diseases are due to localized iron overload: Friedreich's ataxia results from the expansion of triple nucleotide repeats within the frataxin (FRDA) gene; two forms of X-linked sideroblastic anemia are due to mutations within the de …
Other genetic diseases are due to localized iron overload: Friedreich's ataxia results from the expansion of triple nucleotide repeat …