×
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
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
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
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:
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
GeneticVariation
disease
CLINVAR
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
23374165
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:
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:
1203
Gene Symbol:
CLN5
CLN5
0.970
GeneticVariation
disease
CLINVAR
An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation.
22727047
2012
×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
GeneticVariation
disease
CLINVAR
[Neuronal ceroid lipofuscinosis: diagnostic algorithm and clinical description of the Finnish (CLN5) and Turkish (CLN7) variants late infantile].
22532218
2012
×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
GermlineCausalMutation
disease
ORPHANET
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
21990111
2012
×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
GeneticVariation
disease
UNIPROT
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
21990111
2012
×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
GeneticVariation
disease
CLINVAR
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
21990111
2012
×
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:
1203
Gene Symbol:
CLN5
CLN5
0.970
GeneticVariation
disease
UNIPROT
We studied the localization and maturation of the CLN5 carrying the previously uncharacterized vLINCL disease causing mutations in HeLa cells.
20052765
2010
×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
GeneticVariation
disease
CLINVAR
We studied the localization and maturation of the CLN5 carrying the previously uncharacterized vLINCL disease causing mutations in HeLa cells.
20052765
2010
×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
CausalMutation
disease
CLINVAR
We studied the localization and maturation of the CLN5 carrying the previously uncharacterized vLINCL disease causing mutations in HeLa cells.
20052765
2010
×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
GeneticVariation
disease
CLINVAR
CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL.
20157158
2010
×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
GeneticVariation
disease
BEFREE
We studied the localization and maturation of the CLN5 carrying the previously uncharacterized vLINCL disease causing mutations in HeLa cells.
20052765
2010