×
Entrez Id:
54982
Gene Symbol:
CLN6
CLN6
0.830
GeneticVariation
disease
BEFREE
We studied 20 cases of Kufs disease with CLN6 pathogenic variants from 13 unrelated families.
30561534
2019
×
Entrez Id:
54982
Gene Symbol:
CLN6
CLN6
0.830
Biomarker
disease
GENOMICS_ENGLAND
We studied 20 cases of Kufs disease with CLN6 pathogenic variants from 13 unrelated families.
30561534
2019
×
Entrez Id:
8722
Gene Symbol:
CTSF
CTSF
0.030
GeneticVariation
disease
BEFREE
Here, we report a sporadic case of Kufs disease type B with novel compound heterozygous mutations, a novel missense mutation c.977G>T (p.C326F ) and a novel nonsense mutation c.416C>A (p.S139X ), in the cathepsin-F gene.
29120254
2018
×
Entrez Id:
54982
Gene Symbol:
CLN6
CLN6
0.830
Biomarker
disease
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
0.500
Biomarker
disease
MGD
Antigen presenting cell abnormalities in the Cln3(-/-) mouse model of juvenile neuronal ceroid lipofuscinosis.
27101989
2016
×
Entrez Id:
80331
Gene Symbol:
DNAJC5
DNAJC5
0.020
AlteredExpression
disease
BEFREE
Both CSPα monomer and oligomer expression are reduced in synaptosomes prepared from ANCL cortex compared with control.
25905915
2015
×
Entrez Id:
8722
Gene Symbol:
CTSF
CTSF
0.030
Biomarker
disease
BEFREE
Our findings provide evidence that LIMP-2 represents an in vivo substrate of cathepsin-F with relevance for understanding the pathophysiology of type-B-Kufs-disease .
25576872
2015
×
Entrez Id:
950
Gene Symbol:
SCARB2
SCARB2
0.010
Biomarker
disease
BEFREE
Our findings provide evidence that LIMP-2 represents an in vivo substrate of cathepsin-F with relevance for understanding the pathophysiology of type-B-Kufs-disease .
25576872
2015
×
Entrez Id:
5538
Gene Symbol:
PPT1
PPT1
0.200
Biomarker
disease
MGD
The novel Cln1(R151X) mouse model of infantile neuronal ceroid lipofuscinosis (INCL) for testing nonsense suppression therapy.
25205113
2015
×
Entrez Id:
256471
Gene Symbol:
MFSD8
MFSD8
0.200
Biomarker
disease
MGD
Gene disruption of Mfsd8 in mice provides the first animal model for CLN7 disease.
24423645
2014
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.020
GeneticVariation
disease
BEFREE
In silico analysis of mutation p.Leu(381)Phe predicted more detrimental effects when compared to the common Presenilin 1 mutation p.Glu(280)Ala. Electron microscopy study of peripheral fibroblast cells of the proband showed lysosomal inclusions typical for Kufs disease .
24121961
2014
×
Entrez Id:
54982
Gene Symbol:
CLN6
CLN6
0.830
Biomarker
disease
CTD_human
Altered biometal homeostasis is associated with CLN6 mRNA loss in mouse neuronal ceroid lipofuscinosis.
23789114
2013
×
Entrez Id:
54982
Gene Symbol:
CLN6
CLN6
0.830
GeneticVariation
disease
BEFREE
Mutations in CLN6 were recently identified in recessive Kufs disease presenting as progressive myoclonus epilepsy (Type A), whereas the molecular basis of cases presenting with dementia and motor features (Type B) is unknown.
23297359
2013
×
Entrez Id:
8722
Gene Symbol:
CTSF
CTSF
0.030
GeneticVariation
disease
BEFREE
We subsequently sequenced CTSF in 22 unrelated individuals with suspected recessive Kufs disease , and identified an additional patient with compound heterozygous mutations.
23297359
2013
×
Entrez Id:
23400
Gene Symbol:
ATP13A2
ATP13A2
0.310
Biomarker
disease
CTD_human
Characterization of cellular protective effects of ATP13A2/PARK9 expression and alterations resulting from pathogenic mutants.
22847264
2012
×
Entrez Id:
80331
Gene Symbol:
DNAJC5
DNAJC5
0.020
GeneticVariation
disease
BEFREE
Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis .
22073189
2011
×
Entrez Id:
5538
Gene Symbol:
PPT1
PPT1
0.200
Biomarker
disease
MGD
The role of attenuated astrocyte activation in infantile neuronal ceroid lipofuscinosis.
22031903
2011
×
Entrez Id:
23400
Gene Symbol:
ATP13A2
ATP13A2
0.310
Biomarker
disease
CTD_human
A one base pair deletion in the canine ATP13A2 gene causes exon skipping and late-onset neuronal ceroid lipofuscinosis in the Tibetan terrier.
22022275
2011
×
Entrez Id:
54982
Gene Symbol:
CLN6
CLN6
0.830
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:
54982
Gene Symbol:
CLN6
CLN6
0.830
GeneticVariation
disease
BEFREE
Mutations in both CLN6 alleles were found in the three type A cases and in one family affected by unclassified Kufs disease .
21549341
2011
×
Entrez Id:
54982
Gene Symbol:
CLN6
CLN6
0.830
GeneticVariation
disease
UNIPROT
Mutations in both CLN6 alleles were found in the three type A cases and in one family affected by unclassified Kufs disease .
21549341
2011
×
Entrez Id:
23400
Gene Symbol:
ATP13A2
ATP13A2
0.310
GeneticVariation
disease
BEFREE
None of these patients had ATP13A2 sequence variants likely to be causal for their disease, suggesting that mutations in this gene are not common causes of Kufs disease .
21362476
2011
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.020
GeneticVariation
disease
BEFREE
The pathogenic M146I mutation in PSEN1 , and instrumental findings common to adult neuronal ceroid lipofuscinosis were found in the same patient.
21212640
2011
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
0.500
Biomarker
disease
MGD
Osmoregulation of ceroid neuronal lipofuscinosis type 3 in the renal medulla.
20219947
2010
×
Entrez Id:
1200
Gene Symbol:
TPP1
TPP1
0.500
Biomarker
disease
MGD
Residual levels of tripeptidyl-peptidase I activity dramatically ameliorate disease in late-infantile neuronal ceroid lipofuscinosis.
18343701
2008