×
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
BEFREE
We studied the localization and maturation of the CLN5 carrying the previously uncharacterized vLINCL disease causing mutations in HeLa cells.
20052765
2010
×
Entrez Id:
26224
Gene Symbol:
FBXL3
FBXL3
0.100
CausalMutation
disease
CLINVAR
The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations.
20052765
2010
×
Entrez Id:
26224
Gene Symbol:
FBXL3
FBXL3
0.100
GeneticVariation
disease
CLINVAR
The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations.
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:
26224
Gene Symbol:
FBXL3
FBXL3
0.100
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
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:
26224
Gene Symbol:
FBXL3
FBXL3
0.100
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
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:
26224
Gene Symbol:
FBXL3
FBXL3
0.100
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
GeneticVariation
disease
CLINVAR
An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation.
22727047
2012
×
Entrez Id:
26224
Gene Symbol:
FBXL3
FBXL3
0.100
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
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
×
Entrez Id:
497231
Gene Symbol:
CLN9
CLN9
0.010
GeneticVariation
disease
BEFREE
Four patients with juvenile neuronal ceroid lipofuscinoses, a childhood neurodegenerative disorder that was previously described as CLN9 variant, are reclassified as CLN5 disease.
23160995
2012
×
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
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
UNIPROT
The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5.
24058541
2013