|
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 |
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 |
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 |
|
Malignant neoplasm of prostate
|
0.340 |
Biomarker
|
disease |
BEFREE |
Although this study did not find independent prognostic status for cathepsin D in prostate cancer, the correlation with tumor grade and DNA ploidy status is noteworthy and the inter-relationship of outcome variables may prove of interest and warrant further evaluation of this potential predictor or CO-predictor of disease outcome.
|
7541934 |
1995 |
|
Malignant neoplasm of prostate
|
0.340 |
AlteredExpression
|
disease |
BEFREE |
Compared with the LNCaP/pcDNA3.1 and LNCaP cells, the expression of vimentin, cathepsin D, MMP-2 and uPAR were up-regulated in LNCaP/HIF-1alpha, whereas the expression of E-cadherin was down-regulated.
|
16956360 |
2006 |
|
Malignant neoplasm of prostate
|
0.340 |
Biomarker
|
disease |
BEFREE |
A model combining two cancer-related glycoproteins (THBS1 and CTSD) and %fPSA can improve PCa diagnosis and may reduce the number of unnecessary prostate biopsies because of its improved specificity for PCa when compared to %fPSA alone.
|
30216634 |
2019 |
|
Malignant neoplasm of prostate
|
0.340 |
Biomarker
|
disease |
BEFREE |
Conclusively, the use of CTSD and THBS1 together with commonly used parameters for PCa diagnosis such as %fPSA and age has the potential to improve the diagnosis of PCa.
|
28767721 |
2017 |
|
Liver carcinoma
|
0.320 |
Biomarker
|
disease |
BEFREE |
This is the first report that serum ConA-pCD is increased significantly in HCC and is potentially useful as a serological biomarker for diagnosis of HCC.
|
24259486 |
2014 |
|
Liver carcinoma
|
0.320 |
Biomarker
|
disease |
BEFREE |
The ratios of cathepsin B to stefin A, cathepsin D to stefin A, cathepsin B to stefin B and cathepsin D to stefin B of the HCC group were significantly higher than that of the surrounding noncancerous group.
|
26753874 |
2016 |
|
Rheumatoid Arthritis
|
0.310 |
AlteredExpression
|
disease |
BEFREE |
Comparative analysis of cathepsin L, cathepsin D, and collagenase messenger RNA expression in synovial tissues of patients with rheumatoid arthritis and osteoarthritis, by in situ hybridization.
|
7612047 |
1995 |
|
Degenerative polyarthritis
|
0.310 |
AlteredExpression
|
disease |
BEFREE |
To compare the expression of cathepsin L, cathepsin D, and collagenase messenger RNA (mRNA) in synovial specimens from patients with rheumatoid arthritis (RA) and osteoarthritis (OA).
|
7612047 |
1995 |
|
Amyotrophic Lateral Sclerosis, Sporadic
|
0.310 |
Biomarker
|
disease |
BEFREE |
The cytoplasm of AHCs showed diffuse immunoreactivity for LC3, cathepsin B and cathepsin D in both sALS and controls.
|
31504678 |
2019 |
|
Neuronal Ceroid-Lipofuscinoses
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Deficiency in Cathepsin D (CtsD), the major cellular lysosomal aspartic proteinase, causes the congenital form of neuronal ceroid lipofuscinoses (NCLs).
|
20489146 |
2010 |
|
Neuronal Ceroid-Lipofuscinoses
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
To date, 10 NCL entities (CLN1-CLN10) are known and characterized by accumulation of autofluorescent storage material, age of onset and clinical symptoms.
|
19807737 |
2010 |
|
Neuronal Ceroid-Lipofuscinoses
|
0.300 |
Biomarker
|
disease |
BEFREE |
In Grn(-/-) mice the lysosomal proteins cathepsin D (CTSD), LAMP (lysosomal-associated membrane protein) 1 and the NCL storage components saposin D and subunit c of mitochondrial ATP synthase (SCMAS) were all found to be elevated.
|
24619111 |
2014 |
|
Neuronal Ceroid-Lipofuscinoses
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Remaining neurons, astrocytes and macrophages contained PAS-positive storage material with granular ultrastructure and immunoreactivity against sphingolipid activator protein D. A diagnosis of congenital NCL was rendered with a novel mutation, c.299C > T (p.Ser100Phe) in exon 3 of the cathepsin D gene.
|
18762956 |
2009 |
|
Neuronal Ceroid-Lipofuscinoses
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Five types of NCL are caused by mutations in lysosomal proteins (CTSD, CLN1/PPT1, CLN2/TTPI, CLN3 and CLN5), and one type is caused by mutations in a protein that recycles between the ER and ERGIC (CLN8).
|
15265688 |
2004 |
|
Neuronal Ceroid-Lipofuscinoses
|
0.300 |
Biomarker
|
disease |
BEFREE |
CTSD is the gene encoding Cathepsin D (CTSD), a lysosomal protein hydrolase, and homozygous CTSD deficiency results in neuronal ceroid-lipofuscinosis, which is characterized by the early onset, progressive neurodegeneration.
|
26448324 |
2015 |
|
Neuronal Ceroid-Lipofuscinoses
|
0.300 |
Biomarker
|
disease |
BEFREE |
This functional relationship between PGRN and cathepsin D provides a possible explanation for overlapping NCL-like pathology observed in patients with mutations in PGRN or CTSD, the gene encoding cathepsin D. Together, our work identifies PGRN as an activator of lysosomal cathepsin D activity, and suggests that decreased cathepsin D activity due to loss of PGRN contributes to both FTD and NCL pathology in a dose-dependent manner.
|
29036611 |
2017 |
|
Neuronal Ceroid-Lipofuscinoses
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Neuroectoderm-specific deletion of cathepsin D in mice models human inherited neuronal ceroid lipofuscinosis type 10.
|
26232697 |
2016 |
|
Neuronal Ceroid-Lipofuscinoses
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
In mice and humans CTSD dysfunction underlies the congenital variant (CLN10) of neuronal ceroid lipofuscinosis (NCL).
|
31282275 |
2020 |
|
Neuronal Ceroid-Lipofuscinoses
|
0.300 |
AlteredExpression
|
disease |
BEFREE |
Mutation that abolishes CD enzymatic activity causes neuronal ceroid lipofuscinosis (NCL) characterized by severe neurodegeneration, developmental regression, visual loss and epilepsy in both animals and humans.
|
18396408 |
2008 |
|
Neuronal Ceroid-Lipofuscinoses
|
0.300 |
AlteredExpression
|
disease |
BEFREE |
Mutations that abolish the CD enzymatic activity have been implicated in neural ceroid lipofuscinosis.
|
19807669 |
2009 |
|
Neuronal Ceroid-Lipofuscinoses
|
0.300 |
Biomarker
|
disease |
BEFREE |
Neurologic phenotypes of cathepsin D (CTSD)-deficient mice, a murine model of neuronal ceroid lipofuscinoses, indicate the importance of CTSD for the maintenance of metabolism in central nervous system neurons.
|
28502476 |
2017 |
|
Neuronal Ceroid-Lipofuscinoses
|
0.300 |
Biomarker
|
disease |
BEFREE |
Herein, we review CD deficiency in the broader context of NCL and offer potential mechanisms for neuron death and neurodegeneration induced by CD deficiency.
|
17495518 |
2007 |