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A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich ataxia

A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich ataxia

http://www.wikidata.org/entity/Q34376985

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Erythropoietin in Friedreich ataxia 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 A combined nucleic acid and protein analysis in Friedreich ataxia: implications for diagnosis, pathogenesis and clinical trial design Development of frataxin gene expression measures for the evaluation of experimental treatments in Friedreich's ataxia Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich's ataxia.Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia.Mitochondrial dysfunction induced by frataxin deficiency is associated with cellular senescence and abnormal calcium metabolism Functional characterization of Friedreich ataxia iPS-derived neuronal progenitors and their integration in the adult brain.Genetic variations creating microRNA target sites in the FXN 3'-UTR affect frataxin expression in Friedreich ataxia.Nicotinamide in Friedreich's ataxia: useful or not?Friedreich ataxia: failure of GABA-ergic and glycinergic synaptic transmission in the dentate nucleus.Blood cells from Friedreich ataxia patients harbor frataxin deficiency without a loss of mitochondrial function Friedreich ataxia in Norway - an epidemiological, molecular and clinical study Frataxin levels in peripheral tissue in Friedreich ataxia.Analyzing the Effects of a G137V Mutation in the FXN Gene.Perturbation of cellular proteostasis networks identifies pathways that modulate precursor and intermediate but not mature levels of frataxin Intrathecal delivery of frataxin mRNA encapsulated in lipid nanoparticles to dorsal root ganglia as a potential therapeutic for Friedreich's ataxia.Epigenetics in Friedreich's Ataxia: Challenges and Opportunities for Therapy.Novel diagnostic paradigms for Friedreich ataxia Unanswered questions in Friedreich ataxia.Clinical monitoring in a patient with Friedreich ataxia and osteogenic sarcoma.Human platelets as a platform to monitor metabolic biomarkers using stable isotopes and LC-MS.High-throughput immunoassay for the biochemical diagnosis of Friedreich ataxia in dried blood spots and whole blood.Management and therapy for cardiomyopathy in Friedreich's ataxia.Animal and cellular models of Friedreich ataxia.Clinical features of Friedreich's ataxia: classical and atypical phenotypes.Clinical use of frataxin measurement in a patient with a novel deletion in the FXN gene.Friedreich ataxia is not only a GAA repeats expansion disorder: implications for molecular testing and counselling.Lentivirus-meditated frataxin gene delivery reverses genome instability in Friedreich ataxia patient and mouse model fibroblasts Effects of genetic severity on glucose homeostasis in Friedreich ataxia Analysis of the visual system in Friedreich ataxia.Comprehensive analysis of gene expression patterns in Friedreich's ataxia fibroblasts by RNA sequencing reveals altered levels of protein synthesis factors and solute carriers.Friedreich Ataxia: Clinical Feature and Electrophysiological Symptoms.FXN methylation predicts expression and clinical outcome in Friedreich ataxia.Open-label pilot study of interferon gamma-1b in Friedreich ataxia.Buccal swab analysis of mitochondrial enzyme deficiency and DNA defects in a child with suspected myoclonic epilepsy and ragged red fibers (MERRF).Correlation of frataxin content in blood and skeletal muscle endorses frataxin as a biomarker in Friedreich ataxia.Molecular Diagnosis of Friedreich Ataxia Using Analysis of GAA Repeats andFXNGene Exons in Population from Western India

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A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich ataxia

http://www.wikidata.org/entity/Q34376985

description

2010 nî lūn-bûn

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2010 թուականի Յուլիսին հրատարակուած գիտական յօդուած

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2010 թվականի հուլիսին հրատարակված գիտական հոդված

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2010年の論文

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2010年学术文章

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2010年学术文章

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2010年学术文章

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2010年学术文章

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2010年学术文章

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2010年學術文章

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name

A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich ataxia

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A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich ataxia

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A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich ataxia

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type

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A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich ataxia

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A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich ataxia

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A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich ataxia

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A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich ataxia

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A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich ataxia

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A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich ataxia

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J.YMGME.2010.07.001

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Molecular Genetics and Metabolism

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A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich ataxia

@en

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Avni B Santani

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Catherine A Stolle

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David R Lynch

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Eric C Deutsch

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Jennifer M Farmer

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Michael F Marusich

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Susan L Perlman

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P2860

Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion

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

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

Clinical and genetic abnormalities in patients with Friedreich's ataxia

Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes

Hypoxia-inducible factor 2alpha regulates expression of the mitochondrial aconitase chaperone protein frataxin

Measuring the rate of progression in Friedreich ataxia: implications for clinical trial design.

Mapping of the second Friedreich's ataxia (FRDA2) locus to chromosome 9p23-p11: evidence for further locus heterogeneity.

Friedreich's ataxia: from disease mechanisms to therapeutic interventions.

Friedreich ataxia: effects of genetic understanding on clinical evaluation and therapy.

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238-245

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scholarly article

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10.1016/J.YMGME.2010.07.001

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2-3

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101

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2010-07-08T00:00:00Z

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45440058

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20675166

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2996613

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