ライフサイエンスコーパス: DRPLA

1 f the gene products (huntingtin, atrophin-1 (DRPLA), ataxin-3, and androgen receptor) associated with

2 ects and was below the normal range in the 2 DRPLA subjects.

3 scle was also reduced by around 46% in the 2 DRPLA subjects.

4 a group, including OLFM1, TLE2, CNTNAP1, and DRPLA.

5 Our findings show that HD and DRPLA share a deficit of in vivo mitochondrial oxidative

6 ssion and the effects of treatment in HD and DRPLA.

7 ate ratio in the symptomatic HD patients and DRPLA patient.

8 Both patients and DRPLA transgenic mice have nuclear accumulation of atrop

9 JD), and dentatorubropallidoluysian atrophy (DRPLA) in patients with sporadic and inherited ataxia.

10 Dentatorubropallidoluysian atrophy (DRPLA) is one of eight autosomal dominant neurodegenerat

11 (HD) and dentatorubropallidoluysian atrophy (DRPLA) using 31P magnetic resonance spectroscopy (MRS).

12 Dentato-rubral and pallido-luysian atrophy (DRPLA) is one of the family of neurodegenerative disease

13 els of dentatorubral-pallidoluysian atrophy (DRPLA) and Huntington's disease (HD).

14 rative dentatorubral-pallidoluysian atrophy (DRPLA) and that is essential for development of multiple

15 isease Dentatorubral-pallidoluysian atrophy (DRPLA) and this was shown to be partially responsible fo

16 ), and dentatorubral-pallidoluysian atrophy (DRPLA) are produced by genes containing a variably incre

17 Dentatorubral and pallidoluysian atrophy (DRPLA) is a member of a family of progressive neurodegen

18 Dentatorubral and pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disord

19 Dentatorubral and pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disord

20 SCA1), dentatorubral pallidoluysian atrophy (DRPLA) Machado-Joseph disease (MJD or SCA3) and SCA2.

21 dition dentatorubral-pallidoluysian atrophy (DRPLA) via a proposed novel toxic gain of function.

22 ), DentatoRubral and PallidoLuysian Atrophy (DRPLA), and Spino-Cerebellar Ataxia (SCA), have been con

23 isease dentatorubral-pallidoluysian atrophy (DRPLA), progressive acquirement of an ataxic phenotype i

24 (HD), dentatorubral-pallidoluysian atrophy (DRPLA), spinocerebellar ataxia type 1 (SCA1), Machado-Jo

25 or exception is the cerebellum, which in HD, DRPLA, SCA1 and MJD has a smaller repeat relative to the

26 lude that the evolution of neuropathology in DRPLA involves proteolytic processing of mutant atrophin

27 similar in size to the truncation product in DRPLA patient tissue, showed increased nuclear labeling,

28 find that canonical autophagy is stalled in DRPLA mice and in human fibroblasts from patients of DRP

29 gy blockage in several conditions, including DRPLA and Vici syndrome, an early-onset autolysosomal pa

30 Brains of DRPLA patients contained apparently identical 120 kDa nu

31 n nuclear matrix preparations from brains of DRPLA transgenic mice.

32 uronal nuclei in a transgenic mouse model of DRPLA, and may underlie the disease phenotype.Using the

33 ulated in the cerebellum in a mouse model of DRPLA.

34 rophin-1 plays a role in the pathogenesis of DRPLA, we designed alterations of the NLS and NES by sit

35 be an important step in the pathogenesis of DRPLA.

36 ce and in human fibroblasts from patients of DRPLA.

37 ll be a valuable model for future studies of DRPLA pathogenesis and potential therapeutics.

38 hey lack the progressive symptoms typical of DRPLA neurodegeneration.

39 em and nor did constructs containing SBMA or DRPLA with normal or expanded polyglutamine tracts.

40 presymptomatic patients) and 2 gene-positive DRPLA patients (1 presymptomatic patient) were studied.

41 this subset of affected individuals from the DRPLA diagnosis, we suggest using the term CHEDDA (conge

42 and fetal tissues, is highly related to the DRPLA gene, in which expansion of a CAG triplet appears