NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
|
0.930 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
|
0.930 |
Biomarker
|
disease |
CTD_human |
|
|
|
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
|
0.930 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
|
0.930 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
|
0.930 |
Biomarker
|
disease |
MGD |
Cathepsin D deficiency induces lysosomal storage with ceroid lipofuscin in mouse CNS neurons.
|
10995834 |
2000 |
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Cathepsin D deficiency is associated with a human neurodegenerative disorder.
|
16685649 |
2006 |
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Cathepsin D deficiency is associated with a human neurodegenerative disorder.
|
16685649 |
2006 |
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
|
0.930 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Cathepsin D deficiency is associated with a human neurodegenerative disorder.
|
16685649 |
2006 |
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
|
0.930 |
Biomarker
|
disease |
MGD |
Cathepsins B and D are dispensable for major histocompatibility complex class II-mediated antigen presentation.
|
9539769 |
1998 |
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
|
0.930 |
AlteredExpression
|
disease |
BEFREE |
CNS-expressed cathepsin D prevents lymphopenia in a murine model of congenital neuronal ceroid lipofuscinosis.
|
20489146 |
2010 |
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Further, we were able to confirm lack of cathepsin D in the brain tissue of yet another, unrelated, patient of English origin with congenital NCL.
|
16670177 |
2006 |
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
|
0.930 |
Biomarker
|
disease |
BEFREE |
Further, we were able to confirm lack of cathepsin D in the brain tissue of yet another, unrelated, patient of English origin with congenital NCL.
|
16670177 |
2006 |
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
|
0.930 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Further, we were able to confirm lack of cathepsin D in the brain tissue of yet another, unrelated, patient of English origin with congenital NCL.
|
16670177 |
2006 |
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
|
0.930 |
Biomarker
|
disease |
MGD |
Involvement of nitric oxide released from microglia-macrophages in pathological changes of cathepsin D-deficient mice.
|
11567042 |
2001 |
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
|
0.930 |
Biomarker
|
disease |
MGD |
Involvement of two different cell death pathways in retinal atrophy of cathepsin D-deficient mice.
|
12676526 |
2003 |
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
|
0.930 |
Biomarker
|
disease |
MGD |
Mice deficient for the lysosomal proteinase cathepsin D exhibit progressive atrophy of the intestinal mucosa and profound destruction of lymphoid cells.
|
7641679 |
1995 |
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
|
0.930 |
GeneticVariation
|
disease |
BEFREE |
The rare Congenital Neuronal Ceroid Lipofuscinosis (CLN10) caused by mutations in the <i>CTSD</i> gene encoding for cathepsin D is associated with a dramatic presentation with onset before or around birth.
|
29284168 |
2018 |
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
|
0.930 |
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 |
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
|
21990111 |
2012 |