×
Entrez Id:
950
Gene Symbol:
SCARB2
SCARB2
0.800
GeneticVariation
disease
CLINVAR
×
Entrez Id:
950
Gene Symbol:
SCARB2
SCARB2
0.800
Biomarker
disease
CTD_human
×
Entrez Id:
84823
Gene Symbol:
LMNB2
LMNB2
0.300
Biomarker
disease
CTD_human
×
Entrez Id:
1822
Gene Symbol:
ATN1
ATN1
0.300
Biomarker
disease
CTD_human
×
Entrez Id:
10715
Gene Symbol:
CERS1
CERS1
0.300
Biomarker
disease
CTD_human
×
Entrez Id:
9570
Gene Symbol:
GOSR2
GOSR2
0.300
Biomarker
disease
CTD_human
×
Entrez Id:
1106
Gene Symbol:
CHD2
CHD2
0.300
Biomarker
disease
CTD_human
×
Entrez Id:
56978
Gene Symbol:
PRDM8
PRDM8
0.300
Biomarker
disease
CTD_human
×
Entrez Id:
7248
Gene Symbol:
TSC1
TSC1
0.300
Biomarker
disease
CTD_human
The natural history and treatment of epilepsy in a murine model of tuberous sclerosis.
17484760
2007
×
Entrez Id:
950
Gene Symbol:
SCARB2
SCARB2
0.800
CausalMutation
disease
CLINVAR
A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome.
18424452
2008
×
Entrez Id:
950
Gene Symbol:
SCARB2
SCARB2
0.800
CausalMutation
disease
CLINVAR
Mutations in SCARB2 /Limp2 were found in all three families used for mapping and subsequently confirmed in two other unrelated AMRF families.
18308289
2008
×
Entrez Id:
950
Gene Symbol:
SCARB2
SCARB2
0.800
GeneticVariation
disease
UNIPROT
A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome.
18424452
2008
×
Entrez Id:
950
Gene Symbol:
SCARB2
SCARB2
0.800
GeneticVariation
disease
BEFREE
Mutations in SCARB2/Limp2 were found in all three families used for mapping and subsequently confirmed in two other unrelated AMRF families.
18308289
2008
×
Entrez Id:
950
Gene Symbol:
SCARB2
SCARB2
0.800
GeneticVariation
disease
UNIPROT
Mutations in SCARB2 /Limp2 were found in all three families used for mapping and subsequently confirmed in two other unrelated AMRF families.
18308289
2008
×
Entrez Id:
950
Gene Symbol:
SCARB2
SCARB2
0.800
CausalMutation
disease
CLINVAR
SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.
19847901
2009
×
Entrez Id:
950
Gene Symbol:
SCARB2
SCARB2
0.800
GeneticVariation
disease
BEFREE
Mutations in SCARB2 were recently described as causing action myoclonus renal failure syndrome (AMRF ).
19847901
2009
×
Entrez Id:
950
Gene Symbol:
SCARB2
SCARB2
0.800
CausalMutation
disease
CLINVAR
Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzyme.
19454373
2009
×
Entrez Id:
950
Gene Symbol:
SCARB2
SCARB2
0.800
Biomarker
disease
GENOMICS_ENGLAND
Progressive myoclonus epilepsy with demyelinating peripheral neuropathy and preserved intellect: a novel syndrome.
19597094
2009
×
Entrez Id:
950
Gene Symbol:
SCARB2
SCARB2
0.800
GeneticVariation
disease
UNIPROT
Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzyme.
19454373
2009
×
Entrez Id:
950
Gene Symbol:
SCARB2
SCARB2
0.800
GeneticVariation
disease
BEFREE
In contrast to the reduced binding properties of the nonsense mutations, the only missense mutation (H363N ) found in AMRF leads to increased binding of beta-GC to LIMP-2, indicating that this highly conserved histidine modifies the affinity of LIMP-2 to its ligand.
19933215
2010
×
Entrez Id:
2630
Gene Symbol:
GBAP1
GBAP1
0.010
GeneticVariation
disease
BEFREE
With the present study, we demonstrate that disruption of the coiled-coil structure or AMRF disease-causing mutations abolish beta-GC binding, indicating the importance of an intact coiled-coil structure for the interaction of LIMP-2 and beta-GC.
19933215
2010
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.010
GeneticVariation
disease
BEFREE
With the present study, we demonstrate that disruption of the coiled-coil structure or AMRF disease-causing mutations abolish beta-GC binding, indicating the importance of an intact coiled-coil structure for the interaction of LIMP-2 and beta-GC.
19933215
2010
×
Entrez Id:
950
Gene Symbol:
SCARB2
SCARB2
0.800
GeneticVariation
disease
BEFREE
Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features.
22032306
2011
×
Entrez Id:
950
Gene Symbol:
SCARB2
SCARB2
0.800
Biomarker
disease
GENOMICS_ENGLAND
To test the hypothesis whether isolated appearance of individual AMRF syndrome features could be related to heterozygote SCARB2 mutations, we screened for SCARB2 mutations in unrelated patients showing isolated AMRF features.
22032306
2011
×
Entrez Id:
950
Gene Symbol:
SCARB2
SCARB2
0.800
CausalMutation
disease
CLINVAR
Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy.
21670406
2011