Database : MEDLINE
Search on : Friedreich and Ataxia [Words]
References found : 2919 [refine]
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[PMID]: 29325032
[Au] Autor:Santoro A; Anjomani Virmouni S; Paradies E; Villalobos Coa VL; Al-Mahdawi S; Khoo M; Porcelli V; Vozza A; Perrone M; Denora N; Taroni F; Merla G; Palmieri L; Pook MA; Marobbio CMT
[Ad] Address:Institute of Biomembranes, Bioenergetics and Molecular Biotechnologies, Consiglio Nazionale delle Ricerche, 70126 Bari, Italy.
[Ti] Title:Effect of diazoxide on Friedreich ataxia models.
[So] Source:Hum Mol Genet;27(6):992-1001, 2018 Mar 15.
[Is] ISSN:1460-2083
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Friedreich ataxia (FRDA) is an inherited recessive disorder caused by a deficiency in the mitochondrial protein frataxin. There is currently no effective treatment for FRDA available, especially for neurological deficits. In this study, we tested diazoxide, a drug commonly used as vasodilator in the treatment of acute hypertension, on cellular and animal models of FRDA. We first showed that diazoxide increases frataxin protein levels in FRDA lymphoblastoid cell lines, via the mammalian target of rapamycin (mTOR) pathway. We then explored the potential therapeutic effect of diazoxide in frataxin-deficient transgenic YG8sR mice and we found that prolonged oral administration of 3 mpk/d diazoxide was found to be safe, but produced variable effects concerning efficacy. YG8sR mice showed improved beam walk coordination abilities and footprint stride patterns, but a generally reduced locomotor activity. Moreover, they showed significantly increased frataxin expression, improved aconitase activity, and decreased protein oxidation in cerebellum and brain mitochondrial tissue extracts. Further studies are needed before this drug should be considered for FRDA clinical trials.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180307
[Lr] Last revision date:180307
[St] Status:In-Data-Review
[do] DOI:10.1093/hmg/ddy016

  2 / 2919 MEDLINE  
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[PMID]: 29511832
[Au] Autor:Cardenas-Rodriguez M; Chatzi A; Tokatlidis K
[Ad] Address:Institute of Molecular, Cell and Systems Biology, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, G12 8QQ, UK.
[Ti] Title:Iron-sulfur clusters: from metals through mitochondria biogenesis to disease.
[So] Source:J Biol Inorg Chem;, 2018 Mar 06.
[Is] ISSN:1432-1327
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:Iron-sulfur clusters are ubiquitous inorganic co-factors that contribute to a wide range of cell pathways including the maintenance of DNA integrity, regulation of gene expression and protein translation, energy production, and antiviral response. Specifically, the iron-sulfur cluster biogenesis pathways include several proteins dedicated to the maturation of apoproteins in different cell compartments. Given the complexity of the biogenesis process itself, the iron-sulfur research area constitutes a very challenging and interesting field with still many unaddressed questions. Mutations or malfunctions affecting the iron-sulfur biogenesis machinery have been linked with an increasing amount of disorders such as Friedreich's ataxia and various cardiomyopathies. This review aims to recap the recent discoveries both in the yeast and human iron-sulfur cluster arena, covering recent discoveries from chemistry to disease.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1803
[Cu] Class update date: 180307
[Lr] Last revision date:180307
[St] Status:Publisher
[do] DOI:10.1007/s00775-018-1548-6

  3 / 2919 MEDLINE  
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[PMID]: 29509186
[Au] Autor:Seco-Cervera M; González-Rodríguez D; Ibáñez-Cabellos JS; Peiró-Chova L; Pallardó FV; García-Giménez JL
[Ad] Address:Centre for Biomedical Network Research on Rare Diseases (CIBERER- ISCIII), Institute of Health Carlos III, Valencia 46010, Spain.
[Ti] Title:Small RNA-seq analysis of circulating miRNAs to identify phenotypic variability in Friedreich's ataxia patients.
[So] Source:Sci Data;5:180021, 2018 Mar 06.
[Is] ISSN:2052-4463
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Friedreich's ataxia (FRDA; OMIM 229300), an autosomal recessive neurodegenerative mitochondrial disease, is the most prevalent hereditary ataxia. In addition, FRDA patients have shown additional non-neurological features such as scoliosis, diabetes, and cardiac complications. Hypertrophic cardiomyopathy, which is found in two thirds of patients at the time of diagnosis, is the primary cause of death in these patients. Here, we used small RNA-seq of microRNAs (miRNAs) purified from plasma samples of FRDA patients and controls. Furthermore, we present the rationale, experimental methodology, and analytical procedures for dataset analysis. This dataset will facilitate the identification of miRNA signatures and provide new molecular explanation for pathological mechanisms occurring during the natural history of FRDA. Since miRNA levels change with disease progression and pharmacological interventions, miRNAs will contribute to the design of new therapeutic strategies and will improve clinical decisions.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180306
[Lr] Last revision date:180306
[St] Status:In-Data-Review
[do] DOI:10.1038/sdata.2018.21

  4 / 2919 MEDLINE  
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[PMID]: 29440566
[Au] Autor:Zesiewicz TA; Wilmot G; Kuo SH; Perlman S; Greenstein PE; Ying SH; Ashizawa T; Subramony SH; Schmahmann JD; Figueroa KP; Mizusawa H; Schöls L; Shaw JD; Dubinsky RM; Armstrong MJ; Gronseth GS; Sullivan KL
[Ad] Address:From the Department of Neurology (T.A.Z., J.D. Shaw), University of South Florida, Tampa; Department of Neurology (G.W.), Emory University, Atlanta, GA; Department of Neurology (S.-H.K.), Columbia University, New York, NY; Department of Neurology (S.P.), University of California, Los Angeles; Depart
[Ti] Title:Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology.
[So] Source:Neurology;90(10):464-471, 2018 Mar 06.
[Is] ISSN:1526-632X
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:OBJECTIVE: To systematically review evidence regarding ataxia treatment. METHODS: A comprehensive systematic review was performed according to American Academy of Neurology methodology. CONCLUSIONS: For patients with episodic ataxia type 2, 4-aminopyridine 15 mg/d probably reduces ataxia attack frequency over 3 months (1 Class I study). For patients with ataxia of mixed etiology, riluzole probably improves ataxia signs at 8 weeks (1 Class I study). For patients with Friedreich ataxia or spinocerebellar ataxia (SCA), riluzole probably improves ataxia signs at 12 months (1 Class I study). For patients with SCA type 3, valproic acid 1,200 mg/d possibly improves ataxia at 12 weeks. For patients with spinocerebellar degeneration, thyrotropin-releasing hormone possibly improves some ataxia signs over 10 to 14 days (1 Class II study). For patients with SCA type 3 who are ambulatory, lithium probably does not improve signs of ataxia over 48 weeks (1 Class I study). For patients with Friedreich ataxia, deferiprone possibly worsens ataxia signs over 6 months (1 Class II study). Data are insufficient to support or refute the use of numerous agents. For nonpharmacologic options, in patients with degenerative ataxias, 4-week inpatient rehabilitation probably improves ataxia and function (1 Class I study); transcranial magnetic stimulation possibly improves cerebellar motor signs at 21 days (1 Class II study). For patients with multiple sclerosis-associated ataxia, the addition of pressure splints possibly has no additional benefit compared with neuromuscular rehabilitation alone (1 Class II study). Data are insufficient to support or refute use of stochastic whole-body vibration therapy (1 Class III study).
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180306
[Lr] Last revision date:180306
[St] Status:In-Data-Review
[do] DOI:10.1212/WNL.0000000000005055

  5 / 2919 MEDLINE  
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[PMID]: 29447225
[Au] Autor:Wang Q; Guo L; Strawser CJ; Hauser LA; Hwang WT; Snyder NW; Lynch DR; Mesaros C; Blair IA
[Ad] Address:Penn/CHOP Center of Excellence in Friedreich's Ataxia, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America.
[Ti] Title:Low apolipoprotein A-I levels in Friedreich's ataxia and in frataxin-deficient cells: Implications for therapy.
[So] Source:PLoS One;13(2):e0192779, 2018.
[Is] ISSN:1932-6203
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Friedreich's ataxia (FA) is an autosomal recessive neurodegenerative disorder, which results primarily from reduced expression of the mitochondrial protein frataxin. FA has an estimated prevalence of one in 50,000 in the population, making it the most common hereditary ataxia. Paradoxically, mortality arises most frequently from cardiomyopathy and cardiac failure rather than from neurological effects. Decreased high-density lipoprotein (HDL) and apolipoprotein A-I (ApoA-l) levels in the general population are associated with an increased risk of mortality from cardiomyopathy and heart failure. However, the pathophysiology of heart disease in FA is non-vascular and there are conflicting data on HDL-cholesterol in FA. Two studies have shown a decrease in HDL-cholesterol compared with controls and two have shown there was no difference between FA and controls. One also showed that there was no difference in serum Apo-A-I levels in FA when compared with controls. Using a highly specific stable isotope dilution mass spectrometry-based assay, we demonstrated a 21.6% decrease in serum ApoA-I in FA patients (134.8 mg/dL, n = 95) compared with non-affected controls (172.1 mg/dL, n = 95). This is similar to the difference in serum ApoA-I levels between non-smokers and tobacco smokers. Knockdown of frataxin by > 70% in human hepatoma HepG2 cells caused a 20% reduction in secreted ApoA-I. Simvastatin, a 3-hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) reductase inhibitor caused a 200% increase in HMG-CoA in the control HepG2 cells with a similar increase in the frataxin knockdown HepG2 cells, back to levels found in the control cells. There was a concomitant 20% increase in secreted ApoA-I to levels found in the control cells that were treated with simvastatin. This study provides compelling evidence that ApoA-I levels are reduced in FA patients compared with controls and suggest that statin treatment would normalize the ApoA-I levels.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180304
[Lr] Last revision date:180304
[St] Status:In-Data-Review
[do] DOI:10.1371/journal.pone.0192779

  6 / 2919 MEDLINE  
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[PMID]: 29499876
[Au] Autor:Tai G; Corben LA; Yiu EM; Milne SC; Delatycki MB
[Ad] Address:Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Parkville, Victoria 3052, Australia.
[Ti] Title:Progress in the treatment of Friedreich ataxia.
[So] Source:Neurol Neurochir Pol;, 2018 Feb 19.
[Is] ISSN:0028-3843
[Cp] Country of publication:Poland
[La] Language:eng
[Ab] Abstract:Friedreich ataxia (FRDA) is a progressive neurological disorder affecting approximately 1 in 29,000 individuals of European descent. At present, there is no approved pharmacological treatment for this condition however research into treatment of FRDA has advanced considerably over the last two decades since the genetic cause was identified. Current proposed treatment strategies include decreasing oxidative stress, increasing cellular frataxin, improving mitochondrial function as well as modulating frataxin controlled metabolic pathways. Genetic and cell based therapies also hold great promise. Finally, physical therapies are being explored as a means of maximising function in those affected by FRDA.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1803
[Cu] Class update date: 180303
[Lr] Last revision date:180303
[St] Status:Publisher

  7 / 2919 MEDLINE  
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[PMID]: 29490390
[Au] Autor:Rüther K
[Ti] Title:Erbliche Sehnerverkrankungen. [Hereditary Optic Neuropathies].
[So] Source:Klin Monbl Augenheilkd;, 2018 Feb 28.
[Is] ISSN:1439-3999
[Cp] Country of publication:Germany
[La] Language:ger
[Ab] Abstract:Hereditary optic nerve disorders are rare. For ophthalmologists, Leber's hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (ADOA) are of particular relevance. LHON and ADOA are diseases of the retinal ganglion cells and are caused by mitchochondrial dysfunction. LHON is based on mutations of the mitochondrial, ADOA of the nuclear DNA. LHON is a disease that usually leads to severe visual impairment (visual acuity < 0.1). Since there is an approved therapy for LHON (Idebenone [Raxone]), the diagnosis has to be confirmed immediately by means of molecular genetic diagnostics. ADOA usually shows less severe visual impairment, begins in childhood, and progresses gradually, often for a long time without any noticeable worsening. Family history (dominant heredity) and blue colour vision disorder are the leading indicators for the diagnosis of ADOA, which should be confirmed by molecular genetic testing. Optic nerve diseases can also occur in the context of hereditary, syndromic disorders. Ophthalmologically relevant are Wolfram syndrome, Friedreich's ataxia and Charcot-Marie-Tooth disease. In all hereditary optic nerve disorders, foods containing cyanide and smoking should be avoided. Excessive alcohol consumption is considered to be a trigger of LHON and possibly harmful in other hereditary optic neuropathies. In the management of patients with hereditary optic nerve disorders, aspects of rehabilitation as well as social and psychological care should be considered.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180228
[Lr] Last revision date:180228
[St] Status:Publisher
[do] DOI:10.1055/a-0583-6290

  8 / 2919 MEDLINE  
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[PMID]: 29419392
[Au] Autor:Lin H; Magrane J; Rattelle A; Stepanova A; Galkin A; Clark EM; Dong YN; Halawani SM; Lynch DR
[Ti] Title:Correction: Early cerebellar deficits in mitochondrial biogenesis and respiratory chain complexes in the KIKO mouse model of Friedreich ataxia (doi: 10.1242/dmm.030502).
[So] Source:Dis Model Mech;11(1), 2018 Jan 29.
[Is] ISSN:1754-8411
[Cp] Country of publication:England
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE; PUBLISHED ERRATUM
[Em] Entry month:1802
[Cu] Class update date: 180227
[Lr] Last revision date:180227
[St] Status:In-Data-Review

  9 / 2919 MEDLINE  
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[PMID]: 29329987
[Au] Autor:Télot L; Rousseau E; Lesuisse E; Garcia C; Morlet B; Léger T; Camadro JM; Serre V
[Ad] Address:Université Paris Diderot, Sorbonne Paris Cité, Institut Jacques Monod, CNRS UMR 7592, 75013 Paris, France.
[Ti] Title:Quantitative proteomics in Friedreich's ataxia B-lymphocytes: A valuable approach to decipher the biochemical events responsible for pathogenesis.
[So] Source:Biochim Biophys Acta;1864(4 Pt A):997-1009, 2018 Apr.
[Is] ISSN:0006-3002
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Friedreich's ataxia (FRDA) represents the most frequent type of autosomal-recessively inherited ataxia and is caused by the deficiency of frataxin, a mitochondrial protein. It is known that frataxin-deficiency leads to alterations in cellular and mitochondrial iron metabolism and impacts in the cell physiology at several levels. Frataxin is thought to play a role in iron-sulfur cluster biogenesis and heme synthesis. Currently, cellular antioxidant defense is dysregulated when frataxin is deficient, which exacerbates oxidative damage in FRDA. Moreover, alterations in lipid metabolism have been observed in several models of the disease. To better understand the biochemical sequelae of frataxin reduction, global protein expression analysis was performed using quantitative proteomic experiments in Friedreich's ataxia patient-derived B-lymphocytes as compared to controls. We were able to confirm a subset of changes in these cells and importantly, we observed previously unreported signatures of protein expression. Among the novel protein signatures that we have identified, the decrease in CHCHD4 might partly explain some aspects of the molecular pathogenesis of FRDA. The identification of a core set of proteins changing in the FRDA pathogenesis is a useful tool in trying to decipher the function(s) of frataxin in order to clarify the mitochondrial metabolic disease process.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180223
[Lr] Last revision date:180223
[St] Status:In-Data-Review

  10 / 2919 MEDLINE  
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[PMID]: 29272104
[Au] Autor:Guo L; Wang Q; Weng L; Hauser LA; Strawser CJ; Rocha AG; Dancis A; Mesaros C; Lynch DR; Blair IA
[Ad] Address:Penn SRP Center and Center of Excellence in Environmental Toxicology Center, Department of Systems Pharmacology and Translational Therapeutics, Perelman School of Medicine, University of Pennsylvania , Philadelphia, Pennsylvania 19104, United States.
[Ti] Title:Liquid Chromatography-High Resolution Mass Spectrometry Analysis of Platelet Frataxin as a Protein Biomarker for the Rare Disease Friedreich's Ataxia.
[So] Source:Anal Chem;90(3):2216-2223, 2018 Feb 06.
[Is] ISSN:1520-6882
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Friedreich's ataxia (FA) is an autosomal recessive disease caused by an intronic GAA triplet expansion in the FXN gene, leading to reduced expression of the mitochondrial protein frataxin. FA is estimated to affect 1 in 50 000 with a mean age of death in the fourth decade of life. There are no approved treatments for FA, although experimental approaches, which involve up-regulation or replacement of frataxin protein, are being tested. Frataxin is undetectable in serum or plasma, and whole blood cannot be used because it is present in long-lived erythrocytes. Therefore, an assay was developed for analyzing frataxin in platelets, which have a half-life of 10 days. The assay is based on stable isotope dilution immunopurification two-dimensional nano-ultra high performance liquid chromatography/parallel reaction monitoring/mass spectrometry. The lower limit of quantification was 0.078 pg frataxin/µg protein, and the assay had 100% sensitivity and specificity for discriminating between controls and FA cases. The mean levels of control and FA platelet frataxin were 9.4 ± 2.6 and 2.4 ± 0.6 pg/µg protein, respectively. The assay should make it possible to rigorously monitor the effects of therapeutic interventions on frataxin expression in this devastating disease.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180221
[Lr] Last revision date:180221
[St] Status:In-Data-Review
[do] DOI:10.1021/acs.analchem.7b04590


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