A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans
about
Neurodegeneration with brain iron accumulation: update on pathogenic mechanismsIdentification of zyklopen, a new member of the vertebrate multicopper ferroxidase family, and characterization in rodents and human cellshCTR1: a human gene for copper uptake identified by complementation in yeastTranscript-selective translational silencing by gamma interferon is directed by a novel structural element in the ceruloplasmin mRNA 3' untranslated regionMottled Mice and Non-Mammalian Models of Menkes DiseaseTransition metals and mitochondrial metabolism in the heartCeruloplasmin revisited: structural and functional roles of various metal cation-binding sitesRestriction of copper export in Saccharomyces cerevisiae to a late Golgi or post-Golgi compartment in the secretory pathway.Purification and characterization of Fet3 protein, a yeast homologue of ceruloplasmin.Analysis of the human hephaestin gene and protein: comparative modelling of the N-terminus ecto-domain based upon ceruloplasminGenetics of neurodegeneration with brain iron accumulationIdentification and functional expression of HAH1, a novel human gene involved in copper homeostasisThe copper transporter CTR1 provides an essential function in mammalian embryonic developmentAlternative RNA splicing generates a glycosylphosphatidylinositol-anchored form of ceruloplasmin in mammalian brainLack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout miceIron, brain ageing and neurodegenerative disordersCeruloplasmin enhances smooth muscle cell- and endothelial cell-mediated low density lipoprotein oxidation by a superoxide-dependent mechanism.Late-onset neurodegeneration with brain iron accumulation with diffusion tensor magnetic resonance imagingAnother jigsaw piece towards solving the iron metabolism puzzle: the cloning of the iron exporter, ferroportin1.Caenorhabditis elegans: a model to investigate oxidative stress and metal dyshomeostasis in Parkinson's diseaseCeruloplasmin-ferroportin system of iron traffic in vertebrates.Analysis of the high-affinity iron uptake system at the Chlamydomonas reinhardtii plasma membraneChildhood disorders of neurodegeneration with brain iron accumulation (NBIA).Aceruloplasminemia: retinal histopathologic manifestations and iron-mediated melanosome degradationA mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload.Haemolysis and perturbations in the systemic iron metabolism of suckling, copper-deficient mosaic mutant mice - an animal model of Menkes disease.Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel gene mutation.Aceruloplasminemia.Iron transport across the blood-brain barrier: development, neurovascular regulation and cerebral amyloid angiopathy.Atypical haemochromatosis: phenotypic spectrum and beta2-microglobulin candidate gene analysisTargeted gene disruption reveals an essential role for ceruloplasmin in cellular iron effluxThe long history of iron in the Universe and in health and disease.A systems biology approach to iron metabolism.Copper chelation and interleukin-6 proinflammatory cytokine effects on expression of different proteins involved in iron metabolism in HepG2 cell line.Review: Insights into molecular mechanisms of disease in neurodegeneration with brain iron accumulation: unifying theories.Hereditary caeruloplasmin deficiency: clinicopathological study of a patient.Copper binding components of blood plasma and organs, and their responses to influx of large doses of (65)Cu, in the mouseThe regulation of cellular iron metabolism.Pantothenate kinase-associated neurodegeneration is not a synucleinopathyThe neuropsychiatry of hyperkinetic movement disorders: insights from neuroimaging into the neural circuit bases of dysfunction.
P2860
Q21129274-412DC596-6842-4E43-9D65-490BA433E0C6Q24294422-46A0DA8B-DBA9-46E1-ADE1-2C0AC9C0DB89Q24314292-7AA247E3-0866-433E-84AD-0C6D090F1496Q24554320-27449D2D-DE14-4038-8128-633859199B20Q26770905-5ADBA9CB-4C6F-428D-9813-363947DFFF31Q26999334-97F23588-2128-41D0-AF00-4C0441D5D214Q27643626-4C8A5F6C-FB71-4AE9-AC6B-2EF68233F966Q27937681-685BE9F9-39E0-45B9-A82F-2D8C6C77BB18Q27939490-343B0F4D-FA30-47A5-B586-1BF070FA76C8Q28212806-72AE82EF-C8E5-4BCE-965A-1E3E6F9E345BQ28304487-11007A1B-4D23-49E4-A7B1-07853E3A8EFDQ28306709-D956D526-E433-45C2-9C17-89014EDE08E9Q28366364-5DB7B20B-A066-4BE4-B9BB-5010E6C2C35CQ28575311-4324D65C-A7F3-49E7-B234-7F3C61FAE9D5Q28586797-34CFD135-05D0-4451-BEC2-C10B7EEBF076Q29615656-2B2AE9F5-267B-4A0F-810C-1DB8E5DD7436Q30423997-C7B76FA8-F3D0-45C0-ADE6-B1857FFF62EDQ30530767-7BD6AA7D-3ED4-4192-AA1C-9462F2B0A053Q33334772-6BCA5B8C-BB45-4147-986D-A50BE9A8FC4EQ33658107-5C562914-A962-4846-9867-F2838099EF23Q33728846-C7063AE7-3B64-4EF8-97C6-107BBAA18A1CQ33827317-AE0BF198-A9F5-4810-9840-EE4CE111C9B1Q33867989-E426A1F6-FC20-4653-9B64-ECE08DD34673Q33874401-FC356333-7B62-4A4F-82AC-AD8C45538A7AQ34020396-BE303B75-9421-4B5D-BAE8-6BC786D0B49FQ34231704-E9DA9708-FECE-49D3-AE74-651F148D1FC9Q34329790-52322EB3-BE6A-454C-81F7-D6833E32DD68Q34751964-2D89EC92-4655-4FB9-974F-8627EEED2B7CQ35032747-9AA626A8-9F39-4F1C-8F5D-2812EEEF8CE7Q35432924-B75AA9F6-6301-4353-8F53-7EDE782E1266Q35632453-5BB1A917-E375-4075-8010-74E9023429F2Q35672646-67907D4A-2DDE-4EBF-9BF2-EF1A7A482640Q35731204-6DA7A62D-2458-4667-A223-7800D8FF2BC4Q36259104-7D862058-5311-45E9-BE61-8668D03917CDQ36800670-15280F32-8D33-40C9-B43B-51A2CEC5AEEEQ36834658-AE4900FD-3A85-451D-8EC6-1D947775FA10Q36952421-047F1277-CA0B-4A53-9498-2F73D020111BQ36974377-A436D55E-A148-49DF-8510-F1724E85C01DQ37016212-4BE388C3-9E20-44F0-BA8E-D8A08A54354EQ37139529-42A71420-6B9B-4E68-8524-324BF73C9FD9
P2860
A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans
description
1995 nî lūn-bûn
@nan
1995 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի մարտին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans
@ast
A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans
@en
A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans
@nl
type
label
A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans
@ast
A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans
@en
A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans
@nl
prefLabel
A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans
@ast
A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans
@en
A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans
@nl
P2093
P2860
P356
P1433
P1476
A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans
@en
P2093
A Nakamura
K Furihata
K Yamamoto
N Yanagisawa
S Hiyamuta
P2860
P2888
P304
P356
10.1038/NG0395-267
P407
P577
1995-03-01T00:00:00Z