×
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:
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:
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:
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
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:
54982
Gene Symbol:
CLN6
CLN6
0.830
Biomarker
disease
MGD
Neuronal ceroid lipofuscinosis (nclf), a new disorder of the mouse linked to chromosome 9.
9600738
1998
×
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:
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
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
0.500
Biomarker
disease
MGD
A knock-in reporter model of Batten disease.
17855597
2007
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
0.500
Biomarker
disease
MGD
Altered gene expression in the eye of a mouse model for batten disease.
15326100
2004
×
Entrez Id:
1200
Gene Symbol:
TPP1
TPP1
0.500
Biomarker
disease
MGD
A mouse model of classical late-infantile neuronal ceroid lipofuscinosis based on targeted disruption of the CLN2 gene results in a loss of tripeptidyl-peptidase I activity and progressive neurodegeneration.
15483130
2004
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
0.500
Biomarker
disease
MGD
Cln3(Deltaex7/8) knock-in mice with the common JNCL mutation exhibit progressive neurologic disease that begins before birth.
12374761
2002
×
Entrez Id:
1200
Gene Symbol:
TPP1
TPP1
0.500
Biomarker
disease
CTD_human
Aminoglycoside-mediated suppression of nonsense mutations in late infantile neuronal ceroid lipofuscinosis.
11589009
2001
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
0.500
Biomarker
disease
MGD
A mouse gene knockout model for juvenile ceroid-lipofuscinosis (Batten disease).
10440905
1999
×
Entrez Id:
1200
Gene Symbol:
TPP1
TPP1
0.500
Biomarker
disease
CTD_human
Increased brain lysosomal pepstatin-insensitive proteinase activity in patients with neurodegenerative diseases.
10320038
1999
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
0.500
Biomarker
disease
MGD
Targeted disruption of the Cln3 gene provides a mouse model for Batten disease. The Batten Mouse Model Consortium [corrected].
10527801
1999
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
0.500
Biomarker
disease
CTD_human
×
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:
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:
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:
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