ライフサイエンスコーパス: familial Parkinson's disease

1 udy aimed to identify novel genes that cause familial Parkinson's disease.

2 d GBA1 are the most common genetic causes of familial Parkinson's disease.

3 an LRRK2 were identified as a major cause of familial Parkinson's disease.

4 c variability in RAB GTPases within cases of familial Parkinson's disease.

5 ubiquitin ligase Parkin have been linked to familial Parkinson's disease.

6 Leigh syndrome and in a Drosophila model of familial Parkinson's disease.

7 ubiquitin ligase Parkin have been linked to familial Parkinson's disease.

8 inase 2 (LRRK2) are the most common cause of familial Parkinson's disease.

9 ase 2 (LRRK2) are the most frequent cause of familial Parkinson's disease.

10 n ligase parkin were shown to associate with familial Parkinson's disease.

11 tations in it were identified as a cause for familial Parkinson's disease.

12 residues, as the germline mutations causing familial Parkinson's disease.

13 urons, and its mutations are associated with familial Parkinson's disease.

14 at kinase 2 (LRRK2) cause autosomal-dominant familial Parkinson's disease.

15 nd Ala30--> Pro) occur in autosomal dominant familial Parkinson's disease.

16 synuclein, which is a mutant associated with familial Parkinson's disease.

17 2 in 117 other smaller British kindreds with familial Parkinson's disease.

18 tions in parkin are the predominant cause of familial Parkinson's disease.

19 an autosomal recessive, early onset form of familial Parkinson's disease.

20 in parkin are the major cause of early-onset familial Parkinson's disease.

21 urther evidence for genetic heterogeneity in familial Parkinson's disease.

22 d a synuclein mutant that is associated with familial Parkinson's disease.

23 d in the pathogenesis of autosomal recessive familial Parkinson's disease.

24 ciated with rare autosomal dominant forms of familial Parkinson's disease.

25 -L1) genes have been linked to some cases of familial Parkinson's disease.

26 erest, this mutation is a very rare cause of familial Parkinson's disease.

27 (LRRK2) is the most commonly mutated gene in familial Parkinson's disease(1) and is also linked to it

28 Alpha-synuclein mutations that cause familial Parkinson's disease, A30P and A53T, exhibit inc

29 wo mutant forms of alpha-synuclein linked to familial Parkinson's disease (Ala30 --> Pro and Ala53 --

30 Here we focus on two contrasting familial-Parkinson's disease alphaS mutants, E46K and G5

31 ns in the alpha-synuclein gene are linked to familial Parkinson's disease and alpha-synuclein accumul

32 ded by genetic linkage between this gene and familial Parkinson's disease and by neurodegeneration in

33 t forms of alpha-synuclein and tau linked to familial Parkinson's disease and frontotemporal dementia

34 e gene mutations have now been identified in familial Parkinson's disease and important environmental

35 LRRK2 kinase mutations cause familial Parkinson's disease and increased phosphorylati

36 imed to determine the mutational spectrum of familial Parkinson's disease and sporadic early-onset Pa

37 s including the A53T that has been linked to familial Parkinson's disease, and including five substit

38 n that a mutation in NACP is associated with familial Parkinson's disease, and that Lewy bodies are i

39 ha-synuclein mutations are found in cases of familial Parkinson's disease, and transgenic overexpress

40 he LRRK2 kinase are the most common cause of familial Parkinson's disease, and variants increase risk

41 arkin, a ubiquitin ligase, cause early-onset familial Parkinson's disease (AR-JP).

42 l death and the pathogenesis of sporadic and familial Parkinson's disease are creating new opportunit

43 mitophagy, and PARK2 gene product mutated in familial Parkinson's disease, as a ULK1 substrate.

44 Neurons expressing common familial Parkinson's disease-associated mutations in the

45 ired mitophagy is a key causative pathway in familial Parkinson's disease, but its relevance to idiop

46 Rare mutations in Nurr1 are associated with familial Parkinson's disease, but the underlying basis f

47 equency of a novel mutation (Gly2019 ser) in familial Parkinson's disease by screening genomic DNA of

48 two variants in UQCRC1 in the probands with familial Parkinson's disease, c.931A>C (p.Ile311Leu) and

49 mutation is one of the major determinants of familial Parkinson's disease cases and leads to late-ons

50 Familial Parkinson's disease, caused by mutation of the

51 s disease, amyotrophic lateral sclerosis and familial Parkinson's disease, defects arise at different

52 Parkin, the most commonly mutated gene in familial Parkinson's disease, encodes an E3 ubiquitin li

53 cytosis of monomeric tau is dependent on the familial Parkinson's disease gene LRRK2, but not require

54 inhibition in mammals represents a cause of familial Parkinson's disease has not been established.

55 arkin, a E3 ubiquitin ligase associated with familial Parkinson's disease, has been implicated in mit

56 clein gene recently has been associated with familial Parkinson's disease in the Spellman-Muenter kin

57 LRRK2 mutations in a series of 118 cases of familial Parkinson's disease is 5.1%.

58 Sporadic, non-familial Parkinson's disease is characterized by a 15-30

59 y by wild-type (wt) alpha-synuclein, and its familial Parkinson's disease linked mutants A30P and A53

60 ransgenic mice expressing human wild-type or familial Parkinson's disease-linked A53T or A30P mutant

61 Significantly, the expression of familial Parkinson's disease-linked mutant alpha-Syn is

62 sion prevented dopaminergic neuron loss in a familial Parkinson's disease model.

63 hich may have favoured selection of a common familial Parkinson's disease mutant allele in the human

64 Interestingly, the study locates familial Parkinson's disease mutants at the interface be

65 an chromosome 2q37 within a region linked to familial Parkinson's disease (PARK11 locus), and associa

66 epeat kinase 2 (LRRK2) are a common cause of familial Parkinson's disease (PD) and a risk factor for

67 e encoding alpha-synuclein (alphaSyn), cause familial Parkinson's disease (PD) and aberrant alphaSyn

68 ) have been identified as a genetic cause of familial Parkinson's disease (PD) and have also been fou

69 (LRRK2) cause late-onset, autosomal dominant familial Parkinson's disease (PD) and variation at the L

70 riants are identified only for a minority of familial Parkinson's disease (PD) cases, leaving high-ri

71 d LRRK2 together account for the majority of familial Parkinson's disease (PD) cases.

72 Although certain drivers of familial Parkinson's disease (PD) compromise mitochondri

73 Studies of several genes associated with familial Parkinson's disease (PD) have implicated aberra

74 uclein (alphaS) gene mutations occur in rare familial Parkinson's disease (PD) kindreds, and wild-typ

75 The most frequent missense mutations in familial Parkinson's disease (PD) occur in the highly co

76 ynuclein gene (SNCA) have been implicated in familial Parkinson's disease (PD) while certain polymorp

77 mutations in the alpha-synuclein gene cause familial Parkinson's disease (PD), and alpha-synuclein i

78 lterations in alpha-synuclein dosage lead to familial Parkinson's disease (PD), and its accumulation

79 otein alpha-synuclein in the pathogenesis of familial Parkinson's disease (PD), and the aggregation o

80 he parkin gene are common in early-onset and familial Parkinson's disease (PD), and the parkin protei

81 RK2) contribute to development of late-onset familial Parkinson's disease (PD), with clinical feature

82 It is widely accepted that the familial Parkinson's disease (PD)-linked gene product, p

83 Recent studies delineate a pathway involving familial Parkinson's disease (PD)-related proteins PINK1

84 mmon cause of late-onset, autosomal-dominant familial Parkinson's disease (PD).

85 nt a cause of late-onset, autosomal dominant familial Parkinson's disease (PD).

86 n successful in identifying genes that cause familial Parkinson's disease (PD).

87 utations constitute the most common cause of familial Parkinson's disease (PD).

88 repeat kinase 2 (LRRK2) are common causes of familial Parkinson's disease (PD).

89 l player in the pathogenesis of sporadic and familial Parkinson's disease (PD).

90 -synuclein cause autosomal dominant forms of familial Parkinson's disease (PD).

91 gene for alpha-synuclein (alpha-syn), cause familial Parkinson's disease (PD).

92 repeat kinase 2 (LRRK2) is a common cause of familial Parkinson's disease (PD).

93 kin gene are the second most common cause of familial Parkinson's disease (PD).

94 1 (PINK1) are a cause of autosomal recessive familial Parkinson's disease (PD).

95 of alpha-synuclein cause autosomal dominant familial Parkinson's disease (PD).

96 mon genetic cause of late-onset sporadic and familial Parkinson's disease (PD).

97 al dysfunction is implicated in sporadic and familial Parkinson's disease (PD).

98 E3), appear to be the most frequent cause of familial Parkinson's disease (PD).

99 rgic neuron development, are associated with familial Parkinson's disease (PD).

100 induced kinase 1 (PINK1) are associated with familial Parkinson's disease (PD).

101 inase 2 (LRRK2) are the most common cause of familial Parkinson's disease (PD); however, pathways reg

102 termediate conformations are affected by the familial Parkinson's disease point mutations.

103 n SNCA have been identified in some cases of familial Parkinson's disease, presenting numerous new ar

104 PARKIN, an E3 ligase mutated in familial Parkinson's disease, promotes mitophagy by ubiq

105 Out of the three familial Parkinson's disease-related point mutants of al

106 soluble fraction of brain from patients with familial Parkinson's disease (synuclein A53T mutation) a

107 alphaS and two mutational variants linked to familial Parkinson's disease to describe the structural