×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
Biomarker
disease
BEFREE
This study highlights the importance of Cln5 in neurodevelopment and suggests that in contrast to earlier reports, CLN5 disease is likely to develop during embryonic stages.
31294445
2019
×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
Biomarker
disease
BEFREE
We found that the basal level of LC3-II was elevated in both CLN5 disease patient fibroblasts and CLN5 -deficient HeLa cells.
30655561
2019
×
Entrez Id:
6622
Gene Symbol:
SNCA
SNCA
0.010
AlteredExpression
disease
BEFREE
We found the alpha-synuclein (α-syn ) gene SNCA was highly up-regulated in CLN5 disease patient fibroblasts.
30655561
2019
×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
Biomarker
disease
BEFREE
We also reveal that both Dictyostelium Cln5 and human CLN5 are glycoside hydrolases, providing the first evidence in any system linking a molecular function to CLN5 .
29128403
2018
×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
GeneticVariation
disease
BEFREE
Mutations in CLN5 underlie CLN5 disease.
28487519
2017
×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
Biomarker
disease
BEFREE
To model NCL in human cells, we generated induced pluripotent stem cells (iPSCs) by reprogramming skin fibroblasts from a patient with CLN5 (ceroid lipofuscinosis, neuronal, 5 ) disease, the late infantile variant form of NCL.
28468312
2017
×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
GeneticVariation
disease
BEFREE
Mutations in the CLN5 gene are responsible for the Finnish variant late-infantile form of NCL (Finnish vLINCL ).
28442266
2017
×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
Biomarker
disease
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
GeneticVariation
disease
CLINVAR
Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5.
26342652
2015
×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
CausalMutation
disease
CLINVAR
Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5.
26342652
2015
×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
GeneticVariation
disease
UNIPROT
Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5.
26342652
2015
×
Entrez Id:
26224
Gene Symbol:
FBXL3
FBXL3
0.100
CausalMutation
disease
CLINVAR
Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5.
26342652
2015
×
Entrez Id:
26224
Gene Symbol:
FBXL3
FBXL3
0.100
GeneticVariation
disease
CLINVAR
Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5.
26342652
2015
×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
GeneticVariation
disease
UNIPROT
The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5.
24058541
2013
×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
CausalMutation
disease
CLINVAR
The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5.
24058541
2013
×
Entrez Id:
26224
Gene Symbol:
FBXL3
FBXL3
0.100
CausalMutation
disease
CLINVAR
The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5.
24058541
2013
×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
GeneticVariation
disease
UNIPROT
Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5.
24038957
2013
×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
CausalMutation
disease
CLINVAR
Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5.
24038957
2013
×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
GeneticVariation
disease
CLINVAR
Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5.
24038957
2013
×
Entrez Id:
26224
Gene Symbol:
FBXL3
FBXL3
0.100
GeneticVariation
disease
CLINVAR
Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5.
24038957
2013
×
Entrez Id:
26224
Gene Symbol:
FBXL3
FBXL3
0.100
CausalMutation
disease
CLINVAR
Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5.
24038957
2013
×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
GeneticVariation
disease
CLINVAR
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
23374165
2013
×
Entrez Id:
26224
Gene Symbol:
FBXL3
FBXL3
0.100
GeneticVariation
disease
CLINVAR
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
23374165
2013
×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
CausalMutation
disease
CLINVAR
CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches.
23160995
2012
×
Entrez Id:
26224
Gene Symbol:
FBXL3
FBXL3
0.100
CausalMutation
disease
CLINVAR
CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches.
23160995
2012