Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation - Wikidata - awgldk - TriplyDB

Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation

Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation

http://www.wikidata.org/entity/Q24315627

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Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms Induction of Neuron-Specific Degradation of Coenzyme A Models Pantothenate Kinase-Associated Neurodegeneration by Reducing Motor Coordination in Mice Neurodegeneration with brain iron accumulation: diagnosis and management Neurodegeneration with brain iron accumulation: an overview.Neurological Disorders Associated with Striatal Lesions: Classification and Diagnostic Approach.The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases Knock-down of pantothenate kinase 2 severely affects the development of the nervous and vascular system in zebrafish, providing new insights into PKAN disease A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging.Usefulness of DNA Methylation Levels in COASY and SPINT1 Gene Promoter Regions as Biomarkers in Diagnosis of Alzheimer's Disease and Amnestic Mild Cognitive Impairment SCP2 mutations and neurodegeneration with brain iron accumulation.On the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation.Correction of a genetic deficiency in pantothenate kinase 1 using phosphopantothenate replacement therapy.Review: Insights into molecular mechanisms of disease in neurodegeneration with brain iron accumulation: unifying theories.Coenzyme A corrects pathological defects in human neurons of PANK2-associated neurodegeneration.Down-regulation of coasy, the gene associated with NBIA-VI, reduces Bmp signaling, perturbs dorso-ventral patterning and alters neuronal development in zebrafish.Coenzyme A and its derivatives: renaissance of a textbook classic.Defective pantothenate metabolism and neurodegeneration.Alteration of the coenzyme A biosynthetic pathway in neurodegeneration with brain iron accumulation syndromes.Coenzyme A, more than 'just' a metabolic cofactor.Coenzyme A biosynthetic machinery in mammalian cells.An overview of inborn errors of complex lipid biosynthesis and remodelling.Defective lipid metabolism in neurodegeneration with brain iron accumulation (NBIA) syndromes: not only a matter of iron.The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.Genetics of movement disorders in the next-generation sequencing era.Extracellular 4'-phosphopantetheine is a source for intracellular coenzyme A synthesis.Excess coenzyme A reduces skeletal muscle performance and strength in mice overexpressing human PANK2.Insulin Resistance and Neurodegeneration: Progress Towards the Development of New Therapeutics for Alzheimer's Disease.Mitochondrial dysfunction and defects in lipid homeostasis as therapeutic targets in neurodegeneration with brain iron accumulation.Protein CoAlation: a redox-regulated protein modification by coenzyme A in mammalian cells.Acetyl-4'-phosphopantetheine is stable in serum and prevents phenotypes induced by pantothenate kinase deficiency.Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports.Modeling human Coenzyme A synthase mutation in yeast reveals altered mitochondrial function, lipid content and iron metabolism.Parkinson's disease-related DJ-1 functions in thiol quality control against aldehyde attack in vitro.Clinical and imaging characteristics of late onset mitochondrial membrane protein-associated neurodegeneration (MPAN)Nudt19 is a renal CoA diphosphohydrolase with biochemical and regulatory properties that are distinct from the hepatic Nudt7 isoform.Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation.Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye.CoA synthase regulates mitotic fidelity via CBP-mediated acetylation.Coenzyme A, protein CoAlation and redox regulation in mammalian cells.A therapeutic approach to pantothenate kinase associated neurodegeneration

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P2860

Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation

http://www.wikidata.org/entity/Q24315627

description

2014 nî lūn-bûn

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2014 թուականի Յունուարին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի հունվարին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年论文

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Exome sequence reveals mutatio ...... n with brain iron accumulation

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Exome sequence reveals mutatio ...... n with brain iron accumulation

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Exome sequence reveals mutatio ...... n with brain iron accumulation

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Exome sequence reveals mutatio ...... n with brain iron accumulation

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Exome sequence reveals mutatio ...... n with brain iron accumulation

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Exome sequence reveals mutatio ...... n with brain iron accumulation

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Exome sequence reveals mutatio ...... n with brain iron accumulation

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Exome sequence reveals mutatio ...... n with brain iron accumulation

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Exome sequence reveals mutatio ...... n with brain iron accumulation

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Exome sequence reveals mutatio ...... n with brain iron accumulation

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Exome sequence reveals mutatio ...... n with brain iron accumulation

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Exome sequence reveals mutatio ...... n with brain iron accumulation

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J.AJHG.2013.11.008

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American Journal of Human Genetics

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Exome sequence reveals mutatio ...... n with brain iron accumulation

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Allison Gregory

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Conceição Bettencourt

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Giovanna Zorzi

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Ivan Gout

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Jeffrey Hamada

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Lynn Sanford

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Manju A Kurian

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Paola Venco

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P2860

Complete reconstitution of the human coenzyme A biosynthetic pathway via comparative genomics

Identification and characterization of the gene encoding the human phosphopantetheine adenylyltransferase and dephospho-CoA kinase bifunctional enzyme (CoA synthase)

A novel member of solute carrier family 25 (SLC25A42) is a transporter of coenzyme A and adenosine 3',5'-diphosphate in human mitochondria

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

Toward the complete yeast mitochondrial proteome: multidimensional separation techniques for mitochondrial proteomics.

Genetic analysis of coenzyme A biosynthesis in the yeast Saccharomyces cerevisiae: identification of a conditional mutation in the pantothenate kinase gene CAB1.

An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria

A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome

Mitochondrial localization of human PANK2 and hypotheses of secondary iron accumulation in pantothenate kinase-associated neurodegeneration

Specific interaction between S6K1 and CoA synthase: a potential link between the mTOR/S6K pathway, CoA biosynthesis and energy metabolism

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11-22

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scholarly article

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10.1016/J.AJHG.2013.11.008

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1

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94

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Holger Prokisch

Valeria Tiranti

Sebastiano Pasqualato

Lorella Valletta

Luisa Chiapparini

Federica Invernizzi

Barbara Garavaglia

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2014-01-02T00:00:00Z

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24360804

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neurodegeneration with brain iron accumulation

Coenzyme A synthase

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3882905

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