ライフサイエンスコーパス: Lafora

1 Lafora bodies, deposits of abnormally branched, insolubl

2 Lafora disease (LD) is a fatal form of progressive myocl

3 Lafora disease (LD) is a fatal progressive myoclonus epi

4 Lafora disease (LD) is a fatal, congenital, neurodegener

5 Lafora disease (LD) is a progressive myoclonic epilepsy

6 Lafora disease (LD) is a severe teenage-onset neurodegen

7 Lafora disease (LD) is a teenage-onset inherited progres

8 Lafora disease (LD) is an autosomal recessive neurodegen

9 Lafora disease (LD), a fatal genetic form of myoclonic e

10 Lafora disease (progressive myoclonus epilepsy of Lafora

11 Lafora disease is a fatal, progressive myoclonus epileps

12 Lafora disease is a progressive myoclonus epilepsy cause

13 Lafora disease is a progressive myoclonus epilepsy with

14 Lafora disease is a progressive myoclonus epilepsy with

15 Lafora disease is characterized by accumulation of insol

16 Lafora disease is characterized by the formation of Lafo

17 nimals that, by 3 months of age, accumulated Lafora bodies in the brain and to a lesser extent in hea

18 of glycogen leads to aberrant branching and Lafora body formation.

19 of cellular glycogen and its accumulation as Lafora bodies in affected tissues.

20 ycogen-like polymers (polyglucosan) known as Lafora bodies, which accumulate in neurons, muscle, live

21 of insoluble complex carbohydrates known as Lafora bodies.

22 mportant role in the pathophysiology of both Lafora and Cori's disease.

23 in a fatal neurodegenerative disease called Lafora disease (LD).

24 that forms water-insoluble inclusions called Lafora bodies (LBs).

25 mulations of intracellular inclusions called Lafora bodies and caused by mutations in protein phospha

26 al deposits of glycogen-like material called Lafora bodies.

27 osphorylated glycogen-like particles, called Lafora bodies.

28 cumulation of insoluble polyglucosans called Lafora bodies (LBs).

29 Malin deficiency causes Lafora disease, pathologically characterized by neurodeg

30 fora disease, Epm2a(-/-) mice, which develop Lafora bodies in several tissues.

31 e, leading to the neurodegenerative disorder Lafora Disease.

32 cause the fatal neurodegenerative disorder, Lafora disease, characterized by increased glycogen phos

33 ivator protein, nearly completely eliminates Lafora bodies and rescues the neurodegeneration, myoclon

34 disease, the progressive myoclonic epilepsy Lafora disease, excessive phosphorylation of glycogen ha

35 apy for the fatal adolescence onset epilepsy Lafora disease.

36 ause up-regulation of laforin cannot explain Lafora body formation, we conclude that malin functions

37 In 1995, we mapped a gene for Lafora's progressive myoclonus epilepsy in chromosome 6q

38 ion and accumulations of malformed glycogen (Lafora bodies).

39 ostasis, the aberrant glycogen metabolism in Lafora disease might disturb whole-body glucose handling

40 a carbohydrate-binding module, is mutated in Lafora disease (LD).

41 Malin is known to be mutated in Lafora disease, an autosomal recessive disorder clinical

42 hat of laforin, the human protein mutated in Lafora epilepsy.

43 tributes to neurodegeneration as observed in Lafora disease.

44 tions in the gene encoding laforin result in Lafora disease, a fatal autosomal recessive neurodegener

45 irus (HBV) infection but may also be seen in Lafora's disease (myoclonus epilepsy), cyanamide alcohol

46 st possible deregulation of Wnt signaling in Lafora disease.

47 Some 90% of Lafora cases are attributed to mutations of the EPM2A or

48 Approximately half of the cases of Lafora disease result from mutations in the EPM2A gene,

49 Approximately half of the cases of Lafora disease result from mutations in the EPM2A gene,

50 Approximately 90% of cases of Lafora disease, a fatal teenage-onset progressive myoclo

51 e implicating neuronatin in the causation of Lafora disease and diabetes.

52 encoding laforin is the predominant cause of Lafora disease, a fatal form of progressive myoclonic ep

53 a disease (progressive myoclonus epilepsy of Lafora type) is an autosomal recessive neurodegenerative

54 The molecular basis for the formation of Lafora bodies is completely unknown.

55 cteristic of the disease is the formation of Lafora bodies, insoluble deposits containing abnormal gl

56 disease is characterized by the formation of Lafora bodies, insoluble deposits containing poorly bran

57 of glycogen that paralleled the formation of Lafora bodies.

58 and resulting cell death is the hallmark of Lafora disease, a progressive and fatal neurodegenerativ

59 forin and define the molecular mechanisms of Lafora disease.

60 also analyzed glycogen from a mouse model of Lafora disease, Epm2a(-/-) mice, which develop Lafora bo

61 aforin and the phenotype of a mouse model of Lafora disease.

62 se function and in molecular pathogenesis of Lafora's disease.

63 stent with the slow onset of the symptoms of Lafora disease.

64 abnormally structured glycogen and proteins (Lafora bodies [LBs]), and neurodegeneration.

65 esults from multiorgan accumulations, termed Lafora bodies (LB), of abnormally structured aggregation

66 The majority of the Lafora's disease (LD) is caused by defect in the EPM2A g

67 oprecipitation assay, we have found that the Lafora disease ubiquitin ligase malin interacts with dis

68 erious to glycogen structure and can lead to Lafora disease.

69 tribute to abnormal glycogen structure or to Lafora disease.