Friedreich's Ataxia is a Mitochondrial Disorder

Overview

Journal Proc Natl Acad Sci U S A

Specialty Science

Date 1999 Sep 29

PMID 10500103

Citations 13

Authors

J Kaplan

Affiliations

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Citing Articles

Evaluating the efficacy of vatiquinone in preclinical models of Leigh syndrome and GPX4 deficiency.

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Insulin Sensitivity and Insulin Secretion in Adults With Friedreich's Ataxia: The Role of Skeletal Muscle.

Tamaroff J, Nguyen S, Wilson N, Stefanovski D, Xiao R, Scattergood T J Clin Endocrinol Metab. 2024; 110(2):317-333.

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Evaluating the efficacy of vatiquinone in preclinical models of mitochondrial disease.

Kayser E, Chen Y, Mulholland M, Truong V, James K, Hanaford A Res Sq. 2024; .

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Mitochondrial Inherited Disorders and their Correlation with Neurodegenerative Diseases.

Gushi S, Balis V Endocr Metab Immune Disord Drug Targets. 2023; 24(4):381-393.

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Amyloid Beta and Phosphorylated Tau-Induced Defective Autophagy and Mitophagy in Alzheimer's Disease.

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References

Esposito L, Melov S, Panov A, Cottrell B, Wallace D . Mitochondrial disease in mouse results in increased oxidative stress. Proc Natl Acad Sci U S A. 1999; 96(9):4820-5. PMC: 21775. DOI: 10.1073/pnas.96.9.4820. View

Sakamoto N, Chastain P, Parniewski P, Ohshima K, Pandolfo M, Griffith J . Sticky DNA: self-association properties of long GAA.TTC repeats in R.R.Y triplex structures from Friedreich's ataxia. Mol Cell. 1999; 3(4):465-75. DOI: 10.1016/s1097-2765(00)80474-8. View

Waldvogel D, van Gelderen P, Hallett M . Increased iron in the dentate nucleus of patients with Friedrich's ataxia. Ann Neurol. 1999; 46(1):123-5. DOI: 10.1002/1531-8249(199907)46:1<123::aid-ana19>3.0.co;2-h. View

Campuzano V, Montermini L, Molto M, Pianese L, Cossee M, Cavalcanti F . Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science. 1996; 271(5254):1423-7. DOI: 10.1126/science.271.5254.1423. View

Cossee M, Durr A, Schmitt M, Dahl N, Trouillas P, Allinson P . Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes. Ann Neurol. 1999; 45(2):200-6. DOI: 10.1002/1531-8249(199902)45:2<200::aid-ana10>3.0.co;2-u. View

Rotig A, de Lonlay P, Chretien D, Foury F, Koenig M, Sidi D . Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nat Genet. 1997; 17(2):215-7. DOI: 10.1038/ng1097-215. View

Wilson R, Roof D . Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue. Nat Genet. 1997; 16(4):352-7. DOI: 10.1038/ng0897-352. View

Filla A, De Michele G, Cavalcanti F, Pianese L, Monticelli A, Campanella G . The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. Am J Hum Genet. 1996; 59(3):554-60. PMC: 1914893. View

Campuzano V, Montermini L, Lutz Y, Cova L, Hindelang C, Jiralerspong S . Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. Hum Mol Genet. 1997; 6(11):1771-80. DOI: 10.1093/hmg/6.11.1771. View

10.

Wong A, Yang J, Cavadini P, Gellera C, Lonnerdal B, Taroni F . The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis. Hum Mol Genet. 1999; 8(3):425-30. DOI: 10.1093/hmg/8.3.425. View

11.

Monros E, Molto M, Martinez F, Canizares J, Blanca J, Vilchez J . Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat. Am J Hum Genet. 1997; 61(1):101-10. PMC: 1715858. DOI: 10.1086/513887. View

12.

Kispal G, Csere P, Guiard B, Lill R . The ABC transporter Atm1p is required for mitochondrial iron homeostasis. FEBS Lett. 1998; 418(3):346-50. DOI: 10.1016/s0014-5793(97)01414-2. View

13.

Lamarche J, Cote M, Lemieux B . The cardiomyopathy of Friedreich's ataxia morphological observations in 3 cases. Can J Neurol Sci. 1980; 7(4):389-96. DOI: 10.1017/s0317167100022927. View

14.

Koutnikova H, Campuzano V, Foury F, Dolle P, Cazzalini O, Koenig M . Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin. Nat Genet. 1997; 16(4):345-51. DOI: 10.1038/ng0897-345. View

15.

Radisky D, Babcock M, Kaplan J . The yeast frataxin homologue mediates mitochondrial iron efflux. Evidence for a mitochondrial iron cycle. J Biol Chem. 1999; 274(8):4497-9. DOI: 10.1074/jbc.274.8.4497. View

16.

Foury F, Cazzalini O . Deletion of the yeast homologue of the human gene associated with Friedreich's ataxia elicits iron accumulation in mitochondria. FEBS Lett. 1997; 411(2-3):373-7. DOI: 10.1016/s0014-5793(97)00734-5. View

17.

Delatycki M, Camakaris J, Brooks H, Evans-Whipp T, Thorburn D, Williamson R . Direct evidence that mitochondrial iron accumulation occurs in Friedreich ataxia. Ann Neurol. 1999; 45(5):673-5. View

18.

Priller J, Scherzer C, Faber P, Macdonald M, Young A . Frataxin gene of Friedreich's ataxia is targeted to mitochondria. Ann Neurol. 1997; 42(2):265-9. DOI: 10.1002/ana.410420222. View

19.

Lodi R, Cooper J, Bradley J, Manners D, Styles P, Taylor D . Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia. Proc Natl Acad Sci U S A. 1999; 96(20):11492-5. PMC: 18061. DOI: 10.1073/pnas.96.20.11492. View

20.

Babcock M, De Silva D, Oaks R, Jiralerspong S, Montermini L, Pandolfo M . Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin. Science. 1997; 276(5319):1709-12. DOI: 10.1126/science.276.5319.1709. View