Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A)
about
X-linked disorders with cerebellar dysgenesisHomo- and heterodimerization of peroxisomal ATP-binding cassette half-transportersCharacterization of ABCB9, an ATP binding cassette protein associated with lysosomesABC-me: a novel mitochondrial transporter induced by GATA-1 during erythroid differentiationM-ABC2, a new human mitochondrial ATP-binding cassette membrane proteinReciprocal regulation of expression of the human adenosine 5'-triphosphate binding cassette, sub-family A, transporter 2 (ABCA2) promoter by the early growth response-1 (EGR-1) and Sp-family transcription factorsHuman Nbp35 is essential for both cytosolic iron-sulfur protein assembly and iron homeostasisLarge-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiencySystematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutationsHuman iron-sulfur cluster assembly, cellular iron homeostasis, and diseaseMolecular basis of inherited microcytic anemia due to defects in iron acquisition or heme synthesisADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiencyThe ABC transporter gene family of Caenorhabditis elegans has implications for the evolutionary dynamics of multidrug resistance in eukaryotesSurvey of human mitochondrial diseases using new genomic/proteomic toolsSpliceosomal gene mutations in myelodysplasia: molecular links to clonal abnormalities of hematopoiesisIron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster deliveryErythroid heme biosynthesis and its disordersMechanisms of mammalian iron homeostasisCrystal structures of nucleotide-free and glutathione-bound mitochondrial ABC transporter Atm1J-domain protein, Jac1p, of yeast mitochondria required for iron homeostasis and activity of Fe-S cluster proteins.Stimulation of the ATPase activity of the yeast mitochondrial ABC transporter Atm1p by thiol compounds.Refractory anemia with ring sideroblasts and RARS with thrombocytosisRegulation of mitochondrial iron import through differential turnover of mitoferrin 1 and mitoferrin 2Gaucher disease: transcriptome analyses using microarray or mRNA sequencing in a Gba1 mutant mouse model treated with velaglucerase alfa or imigluceraseWhole-genome survey of the putative ATP-binding cassette transporter family genes in Vitis viniferaA comparative inventory of metal transporters in the green alga Chlamydomonas reinhardtii and the red alga Cyanidioschizon merolaeRecent advances in the understanding of myelodysplastic syndromes with ring sideroblasts.X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L.Shifting the paradigm: the putative mitochondrial protein ABCB6 resides in the lysosomes of cells and in the plasma membrane of erythrocytes.Combining gene mutation with gene expression data improves outcome prediction in myelodysplastic syndromes.The role of the iron transporter ABCB7 in refractory anemia with ring sideroblasts.The in-depth evaluation of suspected mitochondrial diseaseThe essential role of mitochondria in the biogenesis of cellular iron-sulfur proteins.Mitochondrial iron metabolism in the yeast Saccharomyces cerevisiae.SOD2 deficient erythroid cells up-regulate transferrin receptor and down-regulate mitochondrial biogenesis and metabolism.Friedreich's ataxia: the vicious circle hypothesis revisited.Erythropoiesis and iron sulfur cluster biogenesis.Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options.Deficiency of glutaredoxin 5 reveals Fe-S clusters are required for vertebrate haem synthesis.Sideroblastic anaemias.
P2860
Q21202871-11D91840-C762-4EB4-A9EF-9A75662D9385Q22010760-3F8F02AE-6072-437D-92CE-0C82B6EF089AQ22253442-B8056828-E111-4228-BBAB-12D5E33A10B0Q22254182-5885834D-811B-41C5-A482-2727D158F230Q22254719-24857056-22E3-4067-9973-53C0A2496145Q24293615-0FD81CA5-2943-4352-AB74-9309E1D41B74Q24324635-A8F7A901-3BDE-45FF-AC48-7A22D39C14BBQ24533500-483480BF-1700-4484-932A-01F9D3C5C24AQ24617022-CC1A2E5E-36E3-47A4-B2A4-263FF67E3C25Q24634143-0E890866-9BB2-4FD7-ABFE-0C3455DCBCCCQ24646911-B6645921-24AF-47E1-BE5A-D7A10D5779FCQ24656191-D46D9D2E-B5A2-4921-9313-2C8A683FB419Q24791091-15D4BC72-1A46-4CC0-8880-2F588439793EQ24800122-D53FEC6B-C7D5-4032-9A93-3558453BEE6AQ26752221-E31A5A4F-5B50-4A2A-8AFB-D8E89C4C8508Q26850111-94BCE794-4A03-4088-93CB-2ED3D08AAD21Q27008081-04A7F4D1-8C7B-4F12-8364-ED1F985B2327Q27010510-7246C2F8-5598-41EE-975B-FD9CD09D33C9Q27689450-B783E81D-C031-4887-85E5-DF44865524B6Q27933878-AE96B014-4572-44CE-BE1A-008219DADDFBQ27938803-B8058575-BEBD-43C6-B3A7-96D055F14875Q28083238-91AC0BBB-916A-4F47-95A6-4C9043794D36Q28508133-01BDA147-342E-4794-8A3B-80CCB6DC0596Q28534109-7BE5F13E-F103-42B9-986C-8D5254B3358CQ28535016-F82AA8A6-9C51-42DB-9CF2-4354A8E17852Q28769889-A54F2D2C-B1D3-40B2-980E-869B4A172299Q30249108-1E5F305A-53CE-4C4B-A8A6-01952D4BBE9FQ30329655-C08C548B-A593-486E-9D1E-1E862E707D73Q30467294-5E0E0F42-8AE7-44E4-9A4A-FEC510CD40A0Q30883788-6AEC433C-96F1-48B2-B7E3-D9FAD63A6E66Q33327379-1A1C8D59-D587-41E9-8CAD-CF82A1DD9E49Q33608204-E8899B03-CD32-483D-BCC1-1561C7452EA1Q33793010-81FC4D3C-56CC-4E88-8160-63AB8FF72558Q33793016-9F17F8A5-1471-4095-8318-950D7D3C5269Q33822264-2D5AA8E0-0BCD-4E34-81D0-AFF9A02AD1AFQ34045081-67064926-9F90-44F9-8F99-711726640E09Q34127573-41FF778A-557F-4236-9DA1-3FE2E9358870Q34386775-559E7209-4171-44CB-81B4-CC0F77164AF2Q34444269-D3B0DAC8-7803-4004-A063-2A583A82FBC3Q34556996-2917F994-EA50-4463-9A06-CEAFABDE28C9
P2860
Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A)
description
1999 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի մայիսին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 1999
@ast
im Mai 1999 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 1999/05/01)
@sk
vědecký článek publikovaný v roce 1999
@cs
wetenschappelijk artikel (gepubliceerd op 1999/05/01)
@nl
наукова стаття, опублікована в травні 1999
@uk
научни чланак (објављен 1999/05/01)
@sr
name
Mutation of a putative mitocho ...... tic anemia and ataxia (XLSA/A)
@ast
Mutation of a putative mitocho ...... tic anemia and ataxia (XLSA/A)
@en
Mutation of a putative mitocho ...... tic anemia and ataxia (XLSA/A)
@nl
type
label
Mutation of a putative mitocho ...... tic anemia and ataxia (XLSA/A)
@ast
Mutation of a putative mitocho ...... tic anemia and ataxia (XLSA/A)
@en
Mutation of a putative mitocho ...... tic anemia and ataxia (XLSA/A)
@nl
prefLabel
Mutation of a putative mitocho ...... tic anemia and ataxia (XLSA/A)
@ast
Mutation of a putative mitocho ...... tic anemia and ataxia (XLSA/A)
@en
Mutation of a putative mitocho ...... tic anemia and ataxia (XLSA/A)
@nl
P2093
P356
P1476
Mutation of a putative mitocho ...... tic anemia and ataxia (XLSA/A)
@en
P2093
D. M. Koeller
N. D. Schueck
R. Allikmets
W. H. Raskind
P304
P356
10.1093/HMG/8.5.743
P577
1999-05-01T00:00:00Z