Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes - Wikidata - thesis-toulmin - TriplyDB

Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes

Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes

http://www.wikidata.org/entity/Q28249379

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Expression of human frataxin is regulated by transcription factors SRF and TFAP2 Salmonella enterica strains lacking the frataxin homolog CyaY show defects in Fe-S cluster metabolism in vivo.Hyperexpansion of GAA repeats affects post-initiation steps of FXN transcription in Friedreich's ataxia Human iron-sulfur cluster assembly, cellular iron homeostasis, and disease Influence of Friedreich ataxia GAA noncoding repeat expansions on pre-mRNA processing Friedreich ataxia: an overview Chronochemistry in neurodegeneration Iron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster delivery Understanding the genetic and molecular pathogenesis of Friedreich's ataxia through animal and cellular models Erythropoietin in Friedreich ataxia HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model Crystal structure of human frataxin Crystal structure of Escherichia coli CyaY protein reveals a previously unidentified fold for the evolutionarily conserved frataxin family Friedreich’s Ataxia Variants I154F and W155R Diminish Frataxin-Based Activation of the Iron–Sulfur Cluster Assembly Complex Structure–Function Analysis of Friedreich’s Ataxia Mutants Reveals Determinants of Frataxin Binding and Activation of the Fe–S Assembly Complex Yeast and human frataxin are processed to mature form in two sequential steps by the mitochondrial processing peptidase.Iron-dependent self-assembly of recombinant yeast frataxin: implications for Friedreich ataxia.CCC1 suppresses mitochondrial damage in the yeast model of Friedreich's ataxia by limiting mitochondrial iron accumulation.Mitochondrial functional interactions between frataxin and Isu1p, the iron-sulfur cluster scaffold protein, in Saccharomyces cerevisiae.Oxidative stress and the homeodynamics of iron metabolism Two-step processing of human frataxin by mitochondrial processing peptidase. Precursor and intermediate forms are cleaved at different rates Friedreich ataxia: from GAA triplet-repeat expansion to frataxin deficiency.Induction of oxidative metabolism by mitochondrial frataxin inhibits cancer growth: Otto Warburg revisited Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes Iron behaving badly: inappropriate iron chelation as a major contributor to the aetiology of vascular and other progressive inflammatory and degenerative diseases Two new pimelic diphenylamide HDAC inhibitors induce sustained frataxin upregulation in cells from Friedreich's ataxia patients and in a mouse model Impaired nuclear Nrf2 translocation undermines the oxidative stress response in Friedreich ataxia The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia A combined nucleic acid and protein analysis in Friedreich ataxia: implications for diagnosis, pathogenesis and clinical trial design Overexpression of human and fly frataxins in Drosophila provokes deleterious effects at biochemical, physiological and developmental levels Development of frataxin gene expression measures for the evaluation of experimental treatments in Friedreich's ataxia Generation and characterisation of Friedreich ataxia YG8R mouse fibroblast and neural stem cell models Lymphoblast Oxidative Stress Genes as Potential Biomarkers of Disease Severity and Drug Effect in Friedreich's Ataxia Disruption of Higher Order DNA Structures in Friedreich's Ataxia (GAA)n Repeats by PNA or LNA Targeting Frataxin is essential for extramitochondrial Fe-S cluster proteins in mammalian tissues Prolonged treatment with pimelic o-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse model Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich's ataxia.Perceived effectiveness and barriers to physical therapy services for families and children with Friedreich ataxia.Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia.Autosomal recessive cerebellar ataxias.

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P2860

Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes

http://www.wikidata.org/entity/Q28249379

description

1997 nî lūn-bûn

@nan

1997 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

1997 թվականի հոտեմբերին հրատարակված գիտական հոդված

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1997年の論文

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1997年論文

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1997年論文

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1997年論文

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1997年論文

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1997年論文

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1997年论文

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name

Frataxin is reduced in Friedre ...... d with mitochondrial membranes

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Frataxin is reduced in Friedre ...... d with mitochondrial membranes

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Frataxin is reduced in Friedre ...... d with mitochondrial membranes

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type

label

Frataxin is reduced in Friedre ...... d with mitochondrial membranes

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Frataxin is reduced in Friedre ...... d with mitochondrial membranes

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Frataxin is reduced in Friedre ...... d with mitochondrial membranes

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prefLabel

Frataxin is reduced in Friedre ...... d with mitochondrial membranes

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Frataxin is reduced in Friedre ...... d with mitochondrial membranes

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Frataxin is reduced in Friedre ...... d with mitochondrial membranes

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Human Molecular Genetics

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Frataxin is reduced in Friedre ...... d with mitochondrial membranes

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P2860

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin

Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

Clinical and genetic abnormalities in patients with Friedreich's ataxia

The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4- phosphate 5-kinase

Common principles of protein translocation across membranes

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein.

Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities ): disease entity or a syndrome? Light-and electron-microscopic studies of two cases and review of literature.

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10.1093/HMG/6.11.1771

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11

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Jean-Louis Mandel

Victoria Campuzano

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