GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L - Wikidata - wikimedia - TriplyDB

GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L

GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L

http://www.wikidata.org/entity/Q24617140

about

Mitochondrial disease in childhood: nuclear encoded The deleterious G15498A mutation in mitochondrial DNA-encoded cytochrome b may remain clinically silent in homoplasmic carriers Iron behaving badly: inappropriate iron chelation as a major contributor to the aetiology of vascular and other progressive inflammatory and degenerative diseases The GRACILE mutation introduced into Bcs1l causes postnatal complex III deficiency: a viable mouse model for mitochondrial hepatopathy A novel mutation in the mitochondrial DNA cytochrome b gene (MTCYB) in a patient with mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome.Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model.Metabolite profiles reveal energy failure and impaired beta-oxidation in liver of mice with complex III deficiency due to a BCS1L mutation.How do human cells react to the absence of mitochondrial DNA?Mitochondrial dysfunction in inherited renal disease and acute kidney injury Mitochondrial disorders of the nuclear genome Genomewide scan in families with schizophrenia from the founder population of Afrikaners reveals evidence for linkage and uniparental disomy on chromosome 1 Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure.Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.Differential proteomic profiling unveils new molecular mechanisms associated with mitochondrial complex III deficiency.AAA+ ATPases: achieving diversity of function with conserved machinery.Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ Renal mitochondrial cytopathies.Mitochondrial Diseases Part I: mouse models of OXPHOS deficiencies caused by defects in respiratory complex subunits or assembly factors.Mitochondriopathies.Yeast as a system for modeling mitochondrial disease mechanisms and discovering therapies.Biogenesis of the cytochrome bc(1) complex and role of assembly factors.COX7A2L/SCAFI and Pre-Complex III Modify Respiratory Chain Supercomplex Formation in Different Mouse Strains with a Bcs1l Mutation.Gain of a New Exon by a Lineage-Specific Alu Element-Integration Event in the BCS1L Gene during Primate Evolution Systematic screens for human disease genes, from yeast to human and back.Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.Molecular diagnostics and mitochondrial dysfunction: a future perspective.Approaches to finding the molecular basis of mitochondrial oxidative phosphorylation disorders.Pathogenic mutations of nuclear genes associated with mitochondrial disorders.The power of yeast to model diseases of the powerhouse of the cell.Effect of High-Carbohydrate Diet on Plasma Metabolome in Mice with Mitochondrial Respiratory Chain Complex III Deficiency.Complex I function and supercomplex formation are preserved in liver mitochondria despite progressive complex III deficiency.Current applications of therapeutic phlebotomy.The clinical maze of mitochondrial neurology Diverse functions of mitochondrial AAA+ proteins: protein activation, disaggregation, and degradation.Gene-based genome-wide association study identified 19p13.3 for lean body mass.Mitochondrial disorders caused by mutations in respiratory chain assembly factors.Mechanisms of mitochondrial diseases.Gastrointestinal and hepatic manifestations of mitochondrial disorders.Nuclear gene mutations as the cause of mitochondrial complex III deficiency

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P2860

GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L

http://www.wikidata.org/entity/Q24617140

description

2002 nî lūn-bûn

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2002 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2002 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2002年の論文

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2002年論文

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2002年論文

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2002年論文

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2002年论文

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GRACILE syndrome, a lethal met ...... d by a point mutation in BCS1L

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GRACILE syndrome, a lethal met ...... d by a point mutation in BCS1L

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GRACILE syndrome, a lethal met ...... d by a point mutation in BCS1L

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GRACILE syndrome, a lethal met ...... d by a point mutation in BCS1L

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GRACILE syndrome, a lethal met ...... d by a point mutation in BCS1L

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GRACILE syndrome, a lethal met ...... d by a point mutation in BCS1L

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GRACILE syndrome, a lethal met ...... d by a point mutation in BCS1L

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GRACILE syndrome, a lethal met ...... d by a point mutation in BCS1L

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GRACILE syndrome, a lethal met ...... d by a point mutation in BCS1L

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P1433

American Journal of Human Genetics

P1476

GRACILE syndrome, a lethal met ...... d by a point mutation in BCS1L

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P2093

Anu Suomalainen

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Ayan Dasvarma

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Douglass M Turnbull

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Gregory S Payne

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Ilona Visapää

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Jenna L Hutton

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Jouni Vesa

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Marja Makarow

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Robert W Taylor

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Rudy Van Coster

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P2860

Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

MTABC3, a novel mitochondrial ATP-binding cassette protein involved in iron homeostasis

ABCB6 (MTABC3) excluded as the causative gene for the growth retardation syndrome with aminoaciduria, cholestasis, iron overload, and lactacidosis

Assignment of the locus for a new lethal neonatal metabolic syndrome to 2q33-37

Internal targeting signal of the BCS1 protein: a novel mechanism of import into mitochondria

Transformation of intact yeast cells treated with alkali cations

A system of shuttle vectors and yeast host strains designed for efficient manipulation of DNA in Saccharomyces cerevisiae

A catalogue of splice junction sequences

BCS1, a novel gene required for the expression of functional Rieske iron-sulfur protein in Saccharomyces cerevisiae

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863-76

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10.1086/342773

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4

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71

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Leena Peltonen-Palotie

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2002-10-01T00:00:00Z

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11173203

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12215968

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378542

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