ライフサイエンスコーパス: Batten disease

1 roid lipofuscinosis (also known as infantile Batten disease).

2 o clarify the origin of CAA abnormalities in Batten disease.

3 r juvenile neuronal ceroid lipofuscinosis or Batten disease.

4 ine levels would be of therapeutic value for Batten disease.

5 ion of CLN3 function and the pathogenesis of Batten disease.

6 for the neurodegenerative disorder juvenile Batten disease.

7 cells derived from individuals with juvenile Batten disease.

8 an alternative CLN3-like (CLN3L) product in Batten disease.

9 ge disorders, which are often referred to as Batten disease.

10 e primary biochemical defect that results in Batten disease.

11 Multiple gene defects cause Batten disease.

12 al loss of GABAergic neurons associated with Batten disease.

13 of 20 out of 20 individuals tested who have Batten disease.

14 ed pH homeostasis is the underlying cause of Batten disease.

15 sociated with the neurodegenerative disorder Batten disease.

16 n be considered for developing a therapy for Batten disease.

17 east can be used as a model for the study of Batten disease.

18 uman neuronal ceroid lipofuscinosis (NCL) or Batten disease.

19 facilitate the creation of a mouse model of Batten disease.

20 nile neuronal ceroid lipofuscinosis (JNCL or Batten disease), a neurodegenerative disease of childhoo

21 inistration of trehalose to a mouse model of Batten disease, a prototypical neurodegenerative disease

22 Here we used normal and CLN5 Batten disease affected sheep to demonstrate the use of

23 ere found in the electroencephalographies of Batten disease affected sheep.

24 Batten disease, also known as juvenile ceroid-lipofuscin

25 nile neuronal ceroid lipofuscinosis (JNCL or Batten disease), an early onset neurodegenerative disord

26 a protein is identical to that recognized in Batten disease and Cln3-/- brain.

27 epileptiform activity seen in children with Batten disease and demonstrate the translational relevan

28 is overexpressed in brains of patients with Batten disease and in Cln3-/- mouse brain, binds to the

29 lular abnormalities associated with juvenile Batten disease and Shwachman-Bodian-Diamond syndrome.

30 Neuronal ceroid lipofuscinoses (NCLs; Batten disease) are collectively the most frequent autos

31 ceroid lipofuscinoses (NCLs), also known as Batten disease, are a group of autosomal recessive neuro

32 , established from individuals with juvenile Batten disease-bearing mutations in CLN3, but not age-ma

33 odel of neuronal ceroid lipofuscinosis (NCL, Batten disease) caused by a mutation in CLN5 In humans,

34 nile neuronal ceroid lipofuscinosis (JNCL or Batten disease) caused by mutations in the CLN3 gene is

35 the majority of patients (The International Batten Disease Consortium 1995).

36 cally relevant point mutations, causative of Batten disease, do not affect protein trafficking but ra

37 t of neuronal ceroid lipofuscinosis (NCL) or Batten disease, due to defects in a putative new gene, C

38 -onset neuronal ceroid lipofuscinosis (JNCL; Batten disease) features hallmark membrane deposits and

39 BTN1 (btn1-delta), an ortholog of the human Batten disease gene CLN3, resulted in a decrease in vacu

40 The Batten disease gene, CLN3, was recently isolated, and fo

41 hromosomal mapping of a mouse homolog of the Batten disease gene, CLN3.

42 isiae encodes an ortholog of CLN3, the human Batten disease gene.

43 of the childhood neurodegenerative disorder, Batten disease, generated for this study.

44 n as neuronal ceroid lipofuscinosis (NCL) or Batten disease has been identified.

45 The CLN3 gene, which is responsible for Batten disease, has been positionally cloned.

46 sponsible for the neurodegenerative disorder Batten disease; however, the molecular basis of this dis

47 Furthermore, the severity of Batten disease in humans and the degree of ANP resistanc

48 oid-lipofuscinoses state in mammals and man (Batten disease), in which subunit c accumulates in lysos

49 Juvenile Batten disease is a neurodegenerative disease caused by

50 Batten disease is a severe autosomal recessive neurodege

51 Juvenile Batten disease is an autosomal recessive pediatric neuro

52 p is located in the vacuole, we suggest that Batten disease is caused by a defect in vacuolar (lysoso

53 Pathologically, Batten disease is characterized by lysosomal storage of

54 Batten disease is characterized by massive lysosomal acc

55 ance of these results to the pathogenesis of Batten disease is discussed.

56 otor skills, the first presenting symptom of Batten disease is vision loss.

57 ronal ceroid lipofuscinosis (INCL, Infantile Batten disease) is a neurodegenerative lysosomal storage

58 nile neuronal ceroid lipofuscinosis (JNCL or Batten Disease) is one of the most common progressive ne

59 ipofuscinosis (NCL), commonly referred to as Batten disease, is a group of autosomal recessive neurod

60 le neuronal ceroid lipofuscinosis (JNCL), or Batten disease, is a neurodegenerative disease resulting

61 al ceroid lipofuscinosis (JNCL), or juvenile Batten disease, is a pediatric lysosomal storage disease

62 oid lipofuscinoses (JNCL), commonly known as Batten disease, is a progressive neurodegenerative disor

63 enile neuronal ceroid lipofuscinosis (JNCL), Batten disease, is an autosomal recessive lysosomal stor

64 s established from individuals with juvenile Batten disease (JNCL) bearing mutations in CLN3 and yeas

65 Juvenile Batten disease (JNCL) is an autosomal recessive disease

66 Batten disease (juvenile-onset neuronal ceroid lipofusci

67 t homolog to human CLN3 that is defective in Batten disease, localizes to the vacuole.

68 report that lysosomes isolated from juvenile Batten disease lymphoblasts are only defective for argin

69 lts suggest that the CLN3 defect in juvenile Batten disease may affect how intracellular levels of ar

70 Neuronal ceroid lipofuscinosces/Batten disease (NCL) is a devastating group of neurodege

71 Batten disease or neuronal ceroid lipofuscinoses (NCL) a

72 Batten disease, or juvenile neuronal ceroid lipofuscinos

73 nce protein function and possibly ameliorate Batten disease pathogenesis.

74 Although the CLN3 gene for Batten disease, the most common inherited neurovisceral

75 Using the yeast model for the Batten disease, we have determined that although btn1-De

76 In studying a mouse model for Batten disease, we report the presence of an autoantibod