×
Entrez Id:
5524
Gene Symbol:
PTPA
PTPA
0.010
AlteredExpression
disease
BEFREE
We showed that the phosphorylation levels of several substrates of PP2A , namely Akt, S6 kinase, and GSK3β, were decreased in CLN8 disease patient fibroblasts.
30453012
2019
×
Entrez Id:
256471
Gene Symbol:
MFSD8
MFSD8
0.010
Biomarker
disease
BEFREE
The observed pathology of one proband resembled condensed fingerprints, previously described in late infantile CLN7 and CLN8 diseases, and pathology from the second proband was thought to be absent even after repeated skin biopsy, but observed after review.
23735787
2013
×
Entrez Id:
2055
Gene Symbol:
CLN8
CLN8
0.940
GeneticVariation
disease
BEFREE
Phenotypic divergence is exemplified by different CLN8 mutations giving rise to two very different diseases, the mild CLN8 disease, EPMR (progressive epilepsy with mental retardation), and the more severe CLN8 disease, late infantile variant.
21990111
2012
×
Entrez Id:
2055
Gene Symbol:
CLN8
CLN8
0.940
GeneticVariation
disease
CLINVAR
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
19201763
2009
×
Entrez Id:
2055
Gene Symbol:
CLN8
CLN8
0.940
GeneticVariation
disease
CLINVAR
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.
26075876
2015
×
Entrez Id:
2055
Gene Symbol:
CLN8
CLN8
0.940
Biomarker
disease
BEFREE
CLN8 deficiency causes a subtype of NCL, referred to as CLN8 disease.
30453012
2019
×
Entrez Id:
2055
Gene Symbol:
CLN8
CLN8
0.940
GeneticVariation
disease
UNIPROT
Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan.
26443629
2016
×
Entrez Id:
2055
Gene Symbol:
CLN8
CLN8
0.940
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
2055
Gene Symbol:
CLN8
CLN8
0.940
Biomarker
disease
MGD
An early-onset congenic strain of the motor neuron degeneration (mnd) mouse.
10191135
1999
×
Entrez Id:
2055
Gene Symbol:
CLN8
CLN8
0.940
GeneticVariation
disease
CLINVAR
Molecular genetics of the NCLs -- status and perspectives.
16828266
2006
×
Entrez Id:
2055
Gene Symbol:
CLN8
CLN8
0.940
GeneticVariation
disease
UNIPROT
Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.
19807737
2010
×
Entrez Id:
2055
Gene Symbol:
CLN8
CLN8
0.940
GeneticVariation
disease
CLINVAR
Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.
15024724
2004
×
Entrez Id:
2055
Gene Symbol:
CLN8
CLN8
0.940
GeneticVariation
disease
CLINVAR
Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells.
15160397
2004
×
Entrez Id:
2055
Gene Symbol:
CLN8
CLN8
0.940
GeneticVariation
disease
UNIPROT
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
19201763
2009
×
Entrez Id:
2055
Gene Symbol:
CLN8
CLN8
0.940
GeneticVariation
disease
BEFREE
Our findings expand the number of CLN8 variants and corroborate the notion that CLN8 patients are not confined to the Finnish population.
16570191
2006
×
Entrez Id:
2055
Gene Symbol:
CLN8
CLN8
0.940
GermlineCausalMutation
disease
ORPHANET
Phenotypic divergence is exemplified by different CLN8 mutations giving rise to two very different diseases, the mild CLN8 disease, EPMR (progressive epilepsy with mental retardation), and the more severe CLN8 disease, late infantile variant.
21990111
2012
×
Entrez Id:
2055
Gene Symbol:
CLN8
CLN8
0.940
Biomarker
disease
GENOMICS_ENGLAND
The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8.
10508524
1999
×
Entrez Id:
2055
Gene Symbol:
CLN8
CLN8
0.940
Biomarker
disease
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
2055
Gene Symbol:
CLN8
CLN8
0.940
Biomarker
disease
MGD
Autosomal dominance in a late-onset motor neuron disease in the mouse.
3783318
1986
×
Entrez Id:
2055
Gene Symbol:
CLN8
CLN8
0.940
Biomarker
disease
MGD
Retinal degeneration in motor neuron degeneration (mnd) mutant mice.
8282051
1993
×
Entrez Id:
2055
Gene Symbol:
CLN8
CLN8
0.940
Biomarker
disease
MGD
Motor neuron degeneration of mice is a model of neuronal ceroid lipofuscinosis (Batten's disease).
7683855
1993
×
Entrez Id:
2055
Gene Symbol:
CLN8
CLN8
0.940
Biomarker
disease
CTD_human
×
Entrez Id:
2055
Gene Symbol:
CLN8
CLN8
0.940
GeneticVariation
disease
CLINVAR
The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum.
10861296
2000
×
Entrez Id:
2055
Gene Symbol:
CLN8
CLN8
0.940
GeneticVariation
disease
UNIPROT
Our findings expand the number of CLN8 variants and corroborate the notion that CLN8 patients are not confined to the Finnish population.
16570191
2006
×
Entrez Id:
2055
Gene Symbol:
CLN8
CLN8
0.940
GeneticVariation
disease
UNIPROT
Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.
15024724
2004