ライフサイエンスコーパス: Batten disease

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

2 e the fatal neurodegenerative disorder, CLN3 Batten disease.

3 utant mice, a model of the infantile form of Batten disease.

4 ldhood neurodegenerative diseases, including Batten disease.

5 ive disease affecting children also known as Batten disease.

6 neficial effects for patients with infantile Batten disease.

7 is gene are associated with the CLN5 form of Batten disease.

8 e global impairment of lysosomal function in Batten disease.

9 e first globally approved treatment for CLN2 Batten disease.

10 ies and treatments for the multiple forms of Batten disease.

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

12 r juvenile neuronal ceroid lipofuscinosis or Batten disease.

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

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

15 n cell lines derived from patients with CLN3 Batten disease.

16 for the neurodegenerative disorder juvenile Batten disease.

17 cells derived from individuals with juvenile Batten disease.

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

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

20 e primary biochemical defect that results in Batten disease.

21 Multiple gene defects cause Batten disease.

22 al loss of GABAergic neurons associated with Batten disease.

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

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

25 sociated with the neurodegenerative disorder Batten disease.

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

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

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

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

30 ses juvenile neuronal ceroid lipofuscinosis (Batten disease), a lethal neurodegenerative LSD.

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

32 cts in the Cln3(-/-) mouse model of juvenile Batten disease, a neurodegenerative lysosomal storage di

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

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

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

36 Batten disease (also known as neuronal ceroid lipofuscin

37 Batten disease, also known as juvenile ceroid-lipofuscin

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

39 rame correction as an approach to treat CLN3 Batten disease and broaden the therapeutic landscape for

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

41 ed from a CLN3 knock-in mouse model of human Batten disease and control cells.

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

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

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

45 pproach to treat retinal dysfunction in CLN3 Batten disease and support broader ASO applications for

46 o hallmarks of Niemann-Pick disease type C1, Batten disease, and mucolipidosis type IV.

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

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

49 ipofuscinoses (NCLs), more commonly known as Batten disease, are a group of fatal inherited neurodege

50 cinoses (NCLs), more commonly referred to as Batten disease, are a group of inherited lysosomal stora

51 r the lysosomal clearance of GPDs and reveal Batten disease as a neurodegenerative LSD with a defect

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

53 egenerative lysosomal storage disorder CLN3 (Batten disease) by mechanisms that are poorly understood

54 Batten disease can result from mutations in 1 of 13 gene

55 and shed light on the molecular etiology of Batten disease caused by defects in CLN6.

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

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

58 CLN3 Batten disease (CLN3 disease) is a pediatric lysosomal s

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

60 ork establishes that the storage material in Batten disease directly disrupts lysosomal lipid homeost

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

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

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

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

65 Here, we report that the Batten disease gene product CLN5 is the elusive BMP synt

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

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

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

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

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

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

72 Phenotypically, patients with Batten disease have visual impairment and blindness, cog

73 iew of the promising therapeutic avenues for Batten disease, highlighting current FDA-approved clinic

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

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

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

77 Batten disease is a group of mostly pediatric neurodegen

78 CLN3 Batten disease is a lethal pediatric neurodegenerative d

79 Juvenile Batten disease is a neurodegenerative disease caused by

80 Batten disease is a severe autosomal recessive neurodege

81 Juvenile Batten disease is an autosomal recessive pediatric neuro

82 CLN3 Batten disease is an autosomal recessive, neurodegenerat

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

84 Pathologically, Batten disease is characterized by lysosomal accumulatio

85 Pathologically, Batten disease is characterized by lysosomal storage of

86 Batten disease is characterized by massive lysosomal acc

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

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

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

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

91 or juvenile neuronal ceroid lipofuscinosis (Batten disease), is a progressive, severe, neurodegenera

92 nal ceroid lipofuscinosis (NCL) or infantile Batten disease, is a fatal neurodegenerative lysosomal s

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

94 tions of which cause fatal neurodegenerative Batten disease, is a lysophosphatidylglycerol acyltransf

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

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

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

98 ile CLN3 disease, the most prevalent form of Batten disease, is a progressive neurodegenerative disor

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

100 euronal ceroid lipofuscinoses, also known as Batten disease, is at the start of a new era because of

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

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

103 Batten disease (juvenile-onset neuronal ceroid lipofusci

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

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

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

107 el insights into the molecular basis of CLN3 Batten disease may reveal avenues for disease-modifying

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

109 Batten disease, one of the most devastating types of neu

110 Batten disease or neuronal ceroid lipofuscinoses (NCL) a

111 Batten disease, or juvenile neuronal ceroid lipofuscinos

112 nce protein function and possibly ameliorate Batten disease pathogenesis.

113 ater may provide therapeutic benefit to CLN3 Batten disease patients, and that the pH of drinking wat

114 to the Golgi complex by interaction with the Batten disease protein CLN8 (ceroid lipofuscinosis, neur

115 wn function that is defective in a different Batten disease subtype.

116 in the cerebrospinal fluid of patients with Batten disease, suggesting the potential use of glycerop

117 s and protein rescue in human cell models of Batten disease, Tay-Sachs disease and cystic fibrosis.

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

119 Batten disease, the most prevalent form of neurodegenera

120 palmitoylthioesterase-1, which is mutated in Batten disease type 1, acid sphingomyelinase, which is m

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

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

123 g retinal dysfunction in a pig model of CLN3 Batten disease, which is more representative of human vi