Literature DB >> 10500103

Friedreich's ataxia is a mitochondrial disorder.

J Kaplan.   

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Year:  1999        PMID： 10500103      PMCID： PMC34221          DOI： 10.1073/pnas.96.20.10948

Source DB:  PubMed          Journal:  Proc Natl Acad Sci U S A        ISSN： 0027-8424            Impact factor:   11.205


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  20 in total

1.  Deletion of the yeast homologue of the human gene associated with Friedreich's ataxia elicits iron accumulation in mitochondria.

Authors:  F Foury; O Cazzalini
Journal:  FEBS Lett       Date:  1997-07-14       Impact factor: 4.124

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

Authors:  M Babcock; D de Silva; R Oaks; S Davis-Kaplan; S Jiralerspong; L Montermini; M Pandolfo; J Kaplan
Journal:  Science       Date:  1997-06-13       Impact factor: 47.728

3.  Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia.

Authors:  R Lodi; J M Cooper; J L Bradley; D Manners; P Styles; D J Taylor; A H Schapira
Journal:  Proc Natl Acad Sci U S A       Date:  1999-09-28       Impact factor: 11.205

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

Authors:  H Koutnikova; V Campuzano; F Foury; P Dollé; O Cazzalini; M Koenig
Journal:  Nat Genet       Date:  1997-08       Impact factor: 38.330

5.  Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat.

Authors:  E Monrós; M D Moltó; F Martínez; J Cañizares; J Blanca; J J Vílchez; F Prieto; R de Frutos; F Palau
Journal:  Am J Hum Genet       Date:  1997-07       Impact factor: 11.025

6.  Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue.

Authors:  R B Wilson; D M Roof
Journal:  Nat Genet       Date:  1997-08       Impact factor: 38.330

7.  Frataxin gene of Friedreich's ataxia is targeted to mitochondria.

Authors:  J Priller; C R Scherzer; P W Faber; M E MacDonald; A B Young
Journal:  Ann Neurol       Date:  1997-08       Impact factor: 10.422

8.  The cardiomyopathy of Friedreich's ataxia morphological observations in 3 cases.

Authors:  J B Lamarche; M Côté; B Lemieux
Journal:  Can J Neurol Sci       Date:  1980-11       Impact factor: 2.104

9.  The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia.

Authors:  A Filla; G De Michele; F Cavalcanti; L Pianese; A Monticelli; G Campanella; S Cocozza
Journal:  Am J Hum Genet       Date:  1996-09       Impact factor: 11.025

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

Authors:  V Campuzano; L Montermini; M D Moltò; L Pianese; M Cossée; F Cavalcanti; E Monros; F Rodius; F Duclos; A Monticelli; F Zara; J Cañizares; H Koutnikova; S I Bidichandani; C Gellera; A Brice; P Trouillas; G De Michele; A Filla; R De Frutos; F Palau; P I Patel; S Di Donato; J L Mandel; S Cocozza; M Koenig; M Pandolfo
Journal:  Science       Date:  1996-03-08       Impact factor: 47.728
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  11 in total

1.  Frataxin depletion in yeast triggers up-regulation of iron transport systems before affecting iron-sulfur enzyme activities.

Authors:  Armando Moreno-Cermeño; Elia Obis; Gemma Bellí; Elisa Cabiscol; Joaquim Ros; Jordi Tamarit
Journal:  J Biol Chem       Date:  2010-10-18       Impact factor: 5.157

2.  Hospitalizations for mitochondrial disease across the lifespan in the U.S.

Authors:  Shana E McCormack; Rui Xiao; Todd J Kilbaugh; Michael Karlsson; Rebecca D Ganetzky; Zarazuela Zolkipli Cunningham; Amy Goldstein; Marni J Falk; Scott M Damrauer
Journal:  Mol Genet Metab       Date:  2017-04-19       Impact factor: 4.797

3.  Muscle oxidative phosphorylation quantitation using creatine chemical exchange saturation transfer (CrCEST) MRI in mitochondrial disorders.

Authors:  Catherine DeBrosse; Ravi Prakash Reddy Nanga; Neil Wilson; Kevin D'Aquilla; Mark Elliott; Hari Hariharan; Felicia Yan; Kristin Wade; Sara Nguyen; Diana Worsley; Chevonne Parris-Skeete; Elizabeth McCormick; Rui Xiao; Zuela Zolkipli Cunningham; Lauren Fishbein; Katherine L Nathanson; David R Lynch; Virginia A Stallings; Marc Yudkoff; Marni J Falk; Ravinder Reddy; Shana E McCormack
Journal:  JCI Insight       Date:  2016-11-03

4.  Neurobehavioral deficits in the KIKO mouse model of Friedreich's ataxia.

Authors:  Marissa Z McMackin; Chelsea K Henderson; Gino A Cortopassi
Journal:  Behav Brain Res       Date:  2016-08-26       Impact factor: 3.332

5.  Perceived effectiveness and barriers to physical therapy services for families and children with Friedreich ataxia.

Authors:  Joyce Maring; Earllaine Croarkin; Sylvia Morgan; Margaret Plack
Journal:  Pediatr Phys Ther       Date:  2013       Impact factor: 3.049

6.  High-throughput screening of FDA-approved drugs using oxygen biosensor plates reveals secondary mitofunctional effects.

Authors:  Sunil Sahdeo; Alexey Tomilov; Kelly Komachi; Christine Iwahashi; Sandipan Datta; Owen Hughes; Paul Hagerman; Gino Cortopassi
Journal:  Mitochondrion       Date:  2014-07-14       Impact factor: 4.160

7.  Delivery of bioactive molecules to mitochondria in vivo.

Authors:  Robin A J Smith; Carolyn M Porteous; Alison M Gane; Michael P Murphy
Journal:  Proc Natl Acad Sci U S A       Date:  2003-04-15       Impact factor: 11.205

Review 8.  Alternative mitochondrial electron transfer for the treatment of neurodegenerative diseases and cancers: Methylene blue connects the dots.

Authors:  Shao-Hua Yang; Wenjun Li; Nathalie Sumien; Michael Forster; James W Simpkins; Ran Liu
Journal:  Prog Neurobiol       Date:  2015-11-18       Impact factor: 11.685

Review 9.  Mitochondria-Derived Damage-Associated Molecular Patterns in Neurodegeneration.

Authors:  Heather M Wilkins; Ian W Weidling; Yan Ji; Russell H Swerdlow
Journal:  Front Immunol       Date:  2017-04-26       Impact factor: 7.561

Review 10.  Oxidative Stress: Mechanistic Insights into Inherited Mitochondrial Disorders and Parkinson's Disease.

Authors:  Mesfer Al Shahrani; Simon Heales; Iain Hargreaves; Michael Orford
Journal:  J Clin Med       Date:  2017-10-27       Impact factor: 4.241
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