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The following term was not found in PubMed: deroblastic
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). MTAB …
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 with …
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 anemi …
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 at leas …
Molecular linkage analysis was performed on a kindred with X-linked sideroblastic anemia and ataxia. Two-point 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.
Initially, mutations in ALAS2 in X-linked sideroblastic anemia (XLSA) focused attention on the heme biosynthetic pathway as a primary cause of sideroblastic anemia. However, the subsequent description of the genes involved in XLSA with ataxia, t …
Initially, mutations in ALAS2 in X-linked sideroblastic anemia (XLSA) focused attention on the heme biosynthetic pathwa …
Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders.
Walsh MF, Chang VY, Kohlmann WK, Scott HS, Cunniff C, Bourdeaut F, Molenaar JJ, Porter CC, Sandlund JT, Plon SE, Wang LL, Savage SA. Walsh MF, et al. Clin Cancer Res. 2017 Jun 1;23(11):e23-e31. doi: 10.1158/1078-0432.CCR-17-0465. Clin Cancer Res. 2017. PMID: 28572264 Free PMC article. Review.
The majority of these syndromes are inherited in an autosomal-recessive manner, but autosomal-dominant and X-linked recessive disorders also exist. The clinical features of patients with DNA repair syndromes are highly varied and dependent on the underlying genetic …
The majority of these syndromes are inherited in an autosomal-recessive manner, but autosomal-dominant and X-linked recessive …
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 proteins. ...D …
A number of ataxias have been shown to result from defects in mitochondrial function. The genes responsible for Friedreich ataxia (FR …
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 transp …
Moreover, four disease-causing missense mutations of human ABCB7 have been mapped to the structure, creating a hotspot map for X-l …
Immunodeficiency as a factor in lymphomagenesis.
Purtilo DT, Sakamoto K. Purtilo DT, et al. Perspect Pediatr Pathol. 1984 Summer;8(2):181-91. Perspect Pediatr Pathol. 1984. PMID: 6330665
This is accomplished with difficulty in an individual with significant immune defects. The X-linked lymphoproliferative syndrome is an exemplary model for studying EBV in immune deficient individuals. Boys with XLP can develop acquired agammaglobulinemia, aplastic …
This is accomplished with difficulty in an individual with significant immune defects. The X-linked lymphoproliferative syndro …
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 sid …
Many ABC transporters are involved in human inherited or sporadic diseases such as cystic fibrosis, adrenoleukodystrophy, Stargardt's diseas …
32 results