×
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:
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:
4691
Gene Symbol:
NCL
NCL
0.010
GeneticVariation
disease
BEFREE
We conclude the following: 1) the CLN6 gene may be a highly mutable gene; 2) exon 4 must code for a segment of the protein crucial for function; 3) vLINCL disease in Portugal is genetically heterogeneous; 4) the I154del accounts for 81.25% of affected CLN6 Portuguese alleles; and 5) three vLINCL Portuguese patients may have defects in a new NCL gene.
12673792
2003
×
Entrez Id:
54982
Gene Symbol:
CLN6
CLN6
0.010
GeneticVariation
disease
BEFREE
We conclude the following: 1) the CLN6 gene may be a highly mutable gene; 2) exon 4 must code for a segment of the protein crucial for function; 3) vLINCL disease in Portugal is genetically heterogeneous; 4) the I154del accounts for 81.25% of affected CLN6 Portuguese alleles; and 5) three vLINCL Portuguese patients may have defects in a new NCL gene.
12673792
2003
×
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:
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
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
GeneticVariation
disease
CLINVAR
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
23374165
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:
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:
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:
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:
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:
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:
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:
26224
Gene Symbol:
FBXL3
FBXL3
0.100
GeneticVariation
disease
CLINVAR
The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland.
18684116
2008
×
Entrez Id:
26224
Gene Symbol:
FBXL3
FBXL3
0.100
CausalMutation
disease
CLINVAR
Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3.
12134079
2002
×
Entrez Id:
26224
Gene Symbol:
FBXL3
FBXL3
0.100
GeneticVariation
disease
CLINVAR
Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3.
12134079
2002
×
Entrez Id:
26224
Gene Symbol:
FBXL3
FBXL3
0.100
CausalMutation
disease
CLINVAR
Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5).
10953198
2000
×
Entrez Id:
26224
Gene Symbol:
FBXL3
FBXL3
0.100
GeneticVariation
disease
CLINVAR
Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5).
10953198
2000
×
Entrez Id:
26224
Gene Symbol:
FBXL3
FBXL3
0.100
CausalMutation
disease
CLINVAR
CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.
9662406
1998
×
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