Juvenile Neuronal Ceroid Lipofuscinosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We previously reported that deletion of BTN1 (btn1-delta), an ortholog of the human Batten disease gene CLN3, resulted in a decrease in vacuolar pH during early growth.
|
14660799 |
2003 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
We report that the yeast model for JNCL (btn1-Delta) that lacks BTN1, the homologue to human CLN3, has increased resistance to menadione-generated oxidative stress.
|
17475770 |
2007 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
S. pombe btn1, the orthologue of the Batten disease gene CLN3, is required for vacuole protein sorting of Cpy1p and Golgi exit of Vps10p.
|
19299465 |
2009 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Here, we investigated a role of one of the putative virulence factors, LmxM.22.0010-encoded BTN1 (a protein involved in Batten disease in humans), in L. mexicana infectivity.
|
29438445 |
2018 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Increased expression of HSP30 and BTN2 in btn1-Delta strains and diminished growth of btn1-Delta, hsp30-Delta, and btn2-Delta strains at low pH reinforce our view that altered pH homeostasis is the underlying cause of Batten disease.
|
11053386 |
2000 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
btn1, the Schizosaccharomyces pombe orthologue of the human Batten-disease gene CLN3, is involved in vacuole pH homeostasis.
|
18697832 |
2008 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Deletion of btn1, an orthologue of CLN3, increases glycolysis and perturbs amino acid metabolism in the fission yeast model of Batten disease.
|
20485751 |
2010 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Lymphoblast cell lines established from individuals with juvenile Batten disease (JNCL) bearing mutations in CLN3 and yeast strains lacking Btn1p (btn1-Delta), the homolog to CLN3, have decreased intracellular levels of arginine and defective lysosomal/vacuolar transport of arginine.
|
17341489 |
2007 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The disease severity of Batten disease-causing mutations (G187A, E295K and V330F), when expressed in btn1 appeared to correlate with their effect on vacuolar pH, suggesting that elevated lysosomal pH contributes to the disease process.
|
16291725 |
2005 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
We propose that up-regulation of Btn2p in btn1-delta is an indicator of altered trafficking within the cell, and as btn1-delta serves as a model for the lysosomal storage disorder Batten disease, that altered intracellular trafficking may contribute to some of the cellular pathological hallmarks of this disease.
|
12615067 |
2003 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
BTN1, the Saccharomyces cerevisiae homolog to the human Batten disease gene, is involved in phospholipid distribution.
|
22107873 |
2012 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Action of BTN1, the yeast orthologue of the gene mutated in Batten disease.
|
10319861 |
1999 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
This phenotypic reversal of btn1-Delta can be considered for developing a therapy for Batten disease.
|
10500178 |
1999 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
BTN1, a yeast gene corresponding to the human gene responsible for Batten's disease, is not essential for viability, mitochondrial function, or degradation of mitochondrial ATP synthase.
|
9219333 |
1997 |