CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
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 |
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
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 |
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
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 |
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.970 |
GeneticVariation
|
disease |
BEFREE |
Mutations in CLN5 underlie CLN5 disease.
|
28487519 |
2017 |
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
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 |
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
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 |
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.970 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.970 |
GeneticVariation
|
disease |
CLINVAR |
Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5.
|
26342652 |
2015 |
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.970 |
CausalMutation
|
disease |
CLINVAR |
Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5.
|
26342652 |
2015 |
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5.
|
26342652 |
2015 |
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5.
|
24058541 |
2013 |
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.970 |
GeneticVariation
|
disease |
CLINVAR |
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
|
23374165 |
2013 |
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5.
|
24038957 |
2013 |
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.970 |
CausalMutation
|
disease |
CLINVAR |
Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5.
|
24038957 |
2013 |
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.970 |
GeneticVariation
|
disease |
CLINVAR |
Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5.
|
24038957 |
2013 |
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.970 |
CausalMutation
|
disease |
CLINVAR |
The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5.
|
24058541 |
2013 |
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.970 |
GeneticVariation
|
disease |
CLINVAR |
An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation.
|
22727047 |
2012 |
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
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 |
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
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 |
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
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 |
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
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 |
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.970 |
CausalMutation
|
disease |
CLINVAR |
CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches.
|
23160995 |
2012 |
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
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 |
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
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 |
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
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 |