Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease BEFREE We sought to test a novel, hybrid, single- and multi-site clinical trial design in the context of a trial for Juvenile Neuronal Ceroid Lipofuscinosis (CLN3 disease), a very rare pediatric neurodegenerative disorder. 31184505 2019
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease BEFREE Juvenile neuronal ceroid lipofuscinosis (JNCL), also known as Batten disease, is the most common form of NCLs. 30892110 2019
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease BEFREE Juvenile neuronal ceroid lipofuscinosis (JNCL) is a lysosomal storage disease caused by autosomal recessive mutations in ceroid lipofuscinosis 3 (CLN3). 29964296 2019
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease BEFREE Accumulating autofluorescent lysosomal storage material in CLN3 disease, consisting of dolichols, lipids, biometals, and a protein that normally resides in the mitochondria, subunit c of the mitochondrial ATPase, provides evidence that autophagosomal-lysosomal turnover of cellular components is disrupted upon loss of CLN3 protein function. 31783699 2019
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease BEFREE Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) is an autosomal recessive lysosomal storage disease caused by loss-of-function mutations in CLN3. 29873075 2019
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease BEFREE To define components critical for lysosomal homeostasis that are affected by this disease, here we quantified the lysosomal proteome in cerebellar cell lines derived from a CLN3 knock-in mouse model of human Batten disease and control cells. 31040178 2019
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 GeneticVariation disease BEFREE Here, we report that the lysosomes in Cln3-mutant mice, which mimic JNCL, and those in cultured cells from JNCL patients, contain significantly reduced levels of Ppt1-protein and Ppt1-enzyme activity and progressively accumulate autofluorescent ceroid. 31025705 2019
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease BEFREE These results indicate that acidified water may provide therapeutic benefit to CLN3 Batten disease patients, and that the pH of drinking water is a major environmental factor that strongly influences the results of murine behavioral and pathological studies. 31628420 2019
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease BEFREE Juvenile neuronal ceroid lipofuscinosis (CLN3 disease) is the most common neurodegenerative disorder in childhood with survival until young adult age. 30884409 2019
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease BEFREE BBDF compiled all of the available CLN3 gene and protein data from biological databases, repositories of federally and privately funded projects, patent and trademark offices, science and technology journals, industrial drug and pipeline reports as well as clinical trial reports and with painstaking precision, validated the information together with experts in Batten disease, lysosomal storage disease, lysosome/endosome biology. 31568712 2019
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease BEFREE Juvenile neuronal ceroid lipofuscinosis (JNCL) is caused by mutations in the <i>CLN3</i> gene. 29470438 2018
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 GeneticVariation disease BEFREE We identified a novel heterozygous CLN3 mutation (c.1056+34C>A) in one of our patients with classic, non-protracted CLN3 disease. 30480032 2018
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 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
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease BEFREE Juvenile neuronal ceroid lipofuscinosis (CLN3 disease) is a hereditary progressive neurodegenerative disease well documented among Caucasians, but such clinical data and genetic characterization is lacking among Asian populations. 30053402 2018
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease BEFREE Cln3 function is linked to osmoregulation in a Dictyostelium model of Batten disease. 30251676 2018
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease BEFREE Juvenile neuronal ceroid lipofuscinosis (jNCL) is a rare but fatal inherited lysosomal storage disorder mainly affecting children. 30042155 2018
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 GeneticVariation disease BEFREE Mutations in the CLN3 gene lead to so far an incurable juvenile-onset neuronal ceroid lipofuscinosis (JNCL) or Batten disease that starts at the age of 4-6 years with a progressive retinopathy leading to blindness. 30621751 2018
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease BEFREE Our results suggest that colony variation in the Cln3Δex7/8 mouse model of CLN3-Batten disease can influence potential biomarkers of the disease. 30086172 2018
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease GENOMICS_ENGLAND Juvenile neuronal ceroid lipofuscinosis (CLN3 disease) is a hereditary progressive neurodegenerative disease well documented among Caucasians, but such clinical data and genetic characterization is lacking among Asian populations. 30053402 2018
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 GeneticVariation disease BEFREE Paroxysmal sympathetic hyperactivity in Juvenile neuronal ceroid lipofuscinosis (Batten disease). 30072301 2018
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 PosttranslationalModification disease BEFREE Age-dependent alterations in neuronal activity in the hippocampus and visual cortex in a mouse model of Juvenile Neuronal Ceroid Lipofuscinosis (CLN3). 28042098 2017
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 GeneticVariation disease BEFREE A model of JBD expressing the predominant human mutation (Cln3 <sup>∆ex7/8</sup> ) has been explored. 28812237 2017
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease BEFREE To identify candidate biomarkers, we analyzed autopsy brain and matching CSF samples from controls and three genetically distinct NCLs due to deficiencies in palmitoyl protein thioesterase 1 (CLN1 disease), tripeptidyl peptidase 1 (CLN2 disease), and CLN3 protein (CLN3 disease). 28792770 2017
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease BEFREE Here, we used the well-characterized XT7 complete cln-3 knockout strain of C. elegans to evaluate the therapeutic efficacy of calcium channel antagonist therapy in a living animal model of Batten disease. 27766444 2017
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 GeneticVariation disease BEFREE Mutations in CLN3 are classically associated with juvenile neuronal ceroid lipofuscinosis, a rare neurodegenerative disease with early retinal degeneration and progressive neurologic deterioration, but have recently also been identified in patients with nonsyndromic inherited retinal degenerations. 28542676 2017