ライフサイエンスコーパス: Friedreich ataxia

1 tically contribute to the pathophysiology of Friedreich ataxia.

2 unclear where and how, and deficiency causes Friedreich ataxia.

3 tutes a new and useful model system to study Friedreich ataxia.

4 inant cause of transcriptional deficiency in Friedreich ataxia.

5 m underlying reduced frataxin mRNA levels in Friedreich Ataxia.

6 f frataxin, the protein which is depleted in Friedreich ataxia.

7 cluster biogenesis in mitochondria, such as Friedreich ataxia.

8 genesis of the most common recessive ataxia, Friedreich ataxia.

9 1 (SCA1), Machado-Joseph disease (MJD), and Friedreich ataxia.

10 ension (-14+/-6%), Fabry disease (-12+/-5%), Friedreich ataxia (-16+/-2%), or control subjects (-17+/

11 Defects in frataxin result in Friedreich ataxia, a genetic disease characterized by ea

12 However, studies in models of Friedreich ataxia, a neurodegenerative and cardiodegener

13 Friedreich ataxia, a neurodegenerative disorder resultin

14 Friedreich ataxia accounts for approximately 75% of Euro

15 l sclerosis, nucleotide expansion disorders (Friedreich ataxia and fragile X syndrome), and cancer.

16 se models for the neurodegenerative diseases Friedreich ataxia and Huntington disease.

17 s thought to underlie the pathophysiology of Friedreich ataxia and may occur at the expense of cytoso

18 The effects were most pronounced for the Friedreich ataxia and the fragile X triplet repeat seque

19 tures reminiscent of mitochondrial myopathy, Friedreich ataxia, and 3-hydroxy-3-methylglutaryl-CoA ly

20 data on cystic fibrosis, Huntington disease, Friedreich ataxia, and progressive myoclonus epilepsy.

21 ity of borderline alleles confers a risk for Friedreich ataxia, and the range of pathogenic alleles i

22 ata indicate that expanded GAA-TR alleles in Friedreich ataxia are highly mutable and have a natural

23 ch corresponds to the expanded GAA repeat in Friedreich ataxia, as well as for ATT, CCT and GTT repea

24 the formation of non-B-DNA structures in the Friedreich ataxia-associated (GAA)n*(TTC)n repeats from

25 t in the first intron of the FXN gene causes Friedreich ataxia by reducing frataxin expression.

26 oth real data sets (cystic fibrosis data and Friedreich ataxia data) and simulated data sets.

27 ical approach for the clinical assessment of Friedreich ataxia (FA) cardiomyopathy (FA-CM).

28 Friedreich ataxia (FA) is a neurodegenerative and cardio

29 Friedreich ataxia (FA) is a progressive neurodegenerativ

30 Friedreich ataxia (FA) is the most common ataxia and res

31 the most common autosomal recessive ataxia, Friedreich ataxia (FA).

32 re responsible for the neurological disorder Friedreich ataxia (FA).

33 eat tracts are involved in the etiologies of Friedreich ataxia, fragile X syndrome, and myotonic dyst

34 Most individuals with Friedreich ataxia (FRDA) are homozygous for an expanded

35 incomplete shift of IRP1 to its ISC form in Friedreich ataxia (FRDA) fibroblasts, associated with de

36 Friedreich Ataxia (FRDA) is a chronic neurodegenerative

37 The genetic mutation in Friedreich ataxia (FRDA) is a hyperexpansion of the trip

38 Friedreich ataxia (FRDA) is a neurodegenerative disease

39 Friedreich ataxia (FRDA) is a neurodegenerative disorder

40 Friedreich ataxia (FRDA) is an autosomal recessive degen

41 Friedreich ataxia (FRDA) is an autosomal recessive degen

42 Friedreich ataxia (FRDA) is an autosomal recessive neuro

43 Friedreich ataxia (FRDA) is an inherited neurodegenerati

44 Friedreich ataxia (FRDA) is caused by a homozygous GAA r

45 Friedreich ataxia (FRDA) is caused by an expanded GAA tr

46 Friedreich ataxia (FRDA) is caused by hyperexpansion of

47 ansion, its role in the GAA.TTC expansion of Friedreich ataxia (FRDA) is less clear.

48 Friedreich ataxia (FRDA) is primarily caused by an unsta

49 Friedreich ataxia (FRDA) is the most common genetic sens

50 Friedreich ataxia (FRDA) is the most common inherited at

51 Friedreich ataxia (FRDA) patients are homozygous for exp

52 Human frataxin (fxn) is severely reduced in Friedreich ataxia (FRDA), a frequent autosomal recessive

53 Frataxin deficiency is the primary cause of Friedreich ataxia (FRDA), an autosomal recessive cardiod

54 Friedreich ataxia (FRDA), an autosomal recessive, neurod

55 Friedreich ataxia (FRDA), the most common hereditary ata

56 tolerability, and efficacy of deferiprone in Friedreich ataxia (FRDA).

57 gene causes an mRNA deficit that results in Friedreich ataxia (FRDA).

58 ISCU interacts with the Friedreich ataxia gene product frataxin in iron-sulfur c

59 However, the human diseases, Friedreich ataxia, glutaredoxin 5-deficient sideroblasti

60 tein linked to the neurodegenerative disease Friedreich ataxia, has recently been proposed as an iron

61 ensurate with the observed low prevalence of Friedreich ataxia in Mestizos.

62 This indicates that Friedreich ataxia in Mexican Mestizos is due to genetic

63 , analogous to disease-causing expansions in Friedreich ataxia, including two that are in introns of

64 Friedreich ataxia is a genetic disease caused by deficie

65 Friedreich ataxia is a severe autosomal-recessive diseas

66 Friedreich ataxia is an autosomal recessive neurodegener

67 Friedreich ataxia is an early-onset multisystemic diseas

68 The most common mutation in Friedreich ataxia is an expanded (GAA*TTC)n sequence, wh

69 Friedreich ataxia is an inherited neurodegenerative dise

70 Friedreich ataxia is caused by an expanded (GAA*TTC)n se

71 Friedreich ataxia is caused by an expanded (GAA.TTC)n se

72 Friedreich ataxia is caused by expansion of a GAA triple

73 Friedreich ataxia is caused by reduced activity of frata

74 Friedreich ataxia is caused by the expansion of a polymo

75 Friedreich ataxia is commonly caused by large expansions

76 rate that the GAA triplet repeat mutation in Friedreich ataxia is destabilized, frequently undergoing

77 Thus epigenetic promoter silencing in Friedreich ataxia is reversible, and the results implica

78 e homolog of the human protein implicated in Friedreich ataxia, is involved in iron homeostasis.

79 Friedreich ataxia may be one of the most thoroughly stud

80 ion, including expansions analogous to short Friedreich ataxia mutations.

81 Friedreich ataxia, myotonic dystrophy type 1 and 3 forms

82 ed arterial hypertension, Fabry disease, and Friedreich ataxia (n=25 per group) were investigated; 25

83 Friedreich ataxia patients are homozygous for expanded G

84 The vast majority of Friedreich ataxia patients are homozygous for large GAA

85 In most Friedreich ataxia patients, a large GAA-repeat expansion

86 3) (prevalence, 3.1 per 100,000 population), Friedreich ataxia (prevalence, 1.0 per 100,000 populatio

87 luded standardized neurological assessments (Friedreich Ataxia Rating Scale [FARS], International Coo

88 xpression also inversely correlated with the Friedreich Ataxia Rating Scale score, an indicator of di

89 Friedreich ataxia results from frataxin insufficiency ca

90 ses associated with oxidative stress such as Friedreich ataxia, spongiform encephalopathies, and Alzh

91 Friedreich ataxia, the most common inherited ataxia, is

92 Friedreich ataxia, the most prevalent inherited ataxia,

93 Fe-S cluster biogenesis has extended beyond Friedreich ataxia to include a sideroblastic anemia with

94 oncentrations are increased in patients with Friedreich ataxia, which supports the hypothesis that it