ライフサイエンスコーパス: Batten

1 Batten disease (also known as neuronal ceroid lipofuscin

2 Batten disease (juvenile-onset neuronal ceroid lipofusci

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

4 Batten disease is a group of mostly pediatric neurodegen

5 Batten disease is a severe autosomal recessive neurodege

6 Batten disease is characterized by massive lysosomal acc

7 Batten disease or neuronal ceroid lipofuscinoses (NCL) a

8 Batten disease, also known as juvenile ceroid-lipofuscin

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

10 Batten disease, or juvenile neuronal ceroid lipofuscinos

11 Batten disease, the most prevalent form of neurodegenera

12 Batten's disease is the most common progressive encephal

13 Batten's disease, one of the most common recessively inh

14 nce protein function and possibly ameliorate Batten disease pathogenesis.

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

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

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

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

19 ive disease affecting children also known as Batten disease.

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

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

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

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

24 Multiple gene defects cause Batten disease.

25 e first globally approved treatment for CLN2 Batten disease.

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

27 CLN3 Batten disease is a lethal pediatric neurodegenerative d

28 CLN3 Batten disease is an autosomal recessive, neurodegenerat

29 e the fatal neurodegenerative disorder, CLN3 Batten disease.

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

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

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

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

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

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

36 Most patients with CLN3 Batten have a deletion encompassing exons 7 and 8 (CLN3(

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

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

39 tinal manifestations using the Weill Cornell Batten Scale (WCBS) and the age association of the retin

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

41 sociated with the neurodegenerative disorder Batten disease.

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

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

44 icrosatellite marker D16S298; 96% of Finnish Batten's disease patients carry allele 6 at this marker.

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

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

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

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

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

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

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

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

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

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

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

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

57 e global impairment of lysosomal function in Batten disease.

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

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

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

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

62 e primary biochemical defect that results in Batten disease.

63 ldhood neurodegenerative diseases, including Batten disease.

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

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

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

67 neficial effects for patients with infantile Batten disease.

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

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

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

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

72 Juvenile Batten disease is a neurodegenerative disease caused by

73 Juvenile Batten disease is an autosomal recessive pediatric neuro

74 for the neurodegenerative disorder juvenile Batten disease.

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

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

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

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

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

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

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

82 cells derived from individuals with juvenile Batten disease.

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

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

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

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

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

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

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

90 lysosomal storage diseases, including NPC2, Batten (ceroid lipofuscinosis, neuronal 2, CLN2), Fabry,

91 s a 1kb deletion, which is carried by 81% of Batten's disease patients.

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

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

94 t gene analysis in the prenatal diagnosis of Batten's disease.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

109 s process leads to the signs and symptoms of Batten's disease.

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

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

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

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

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

115 r juvenile neuronal ceroid lipofuscinosis or Batten disease.

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

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

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

119 Pathologically, Batten disease is characterized by lysosomal accumulatio

120 Pathologically, Batten disease is characterized by lysosomal storage of

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

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

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

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

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

126 Queen Square, he became the director of the Batten Unit, continuing his interest in respiratory phys

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

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

129 ctron microscopy of the fetus showed typical Batten's disease changes.

130 al loss of GABAergic neurons associated with Batten disease.

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

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

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

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

135 A Finnish woman with a son with Batten's disease came for genetic counselling for her cu