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 |
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 |
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 |
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Although functions are defined for some of the soluble proteins that are defective in NCL (cathepsin D, PPT1, and TPP1), the primary function of the other proteins defective in NCLs (CLN3, CLN5, CLN6, CLN7, and CLN8) remain poorly defined.
|
20680390 |
2011 |
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 |
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 |
AlteredExpression
|
disease |
BEFREE |
Mutations that abolish the CD enzymatic activity have been implicated in neural ceroid lipofuscinosis.
|
19807669 |
2009 |
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 |
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 |
Neuronal Ceroid-Lipofuscinoses
|
0.300 |
Biomarker
|
disease |
BEFREE |
Mutations in two additional genes cause disease in animal models that share features with NCL-CTSD in sheep and mice and PPT2 in mice.
|
15965709 |
2005 |
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 |
MGD |
Involvement of two different cell death pathways in retinal atrophy of cathepsin D-deficient mice.
|
12676526 |
2003 |
Neuronal Ceroid-Lipofuscinoses
|
0.300 |
Biomarker
|
disease |
MGD |
Involvement of nitric oxide released from microglia-macrophages in pathological changes of cathepsin D-deficient mice.
|
11567042 |
2001 |
Neuronal Ceroid-Lipofuscinoses
|
0.300 |
Biomarker
|
disease |
MGD |
Cathepsin D deficiency induces lysosomal storage with ceroid lipofuscin in mouse CNS neurons.
|
10995834 |
2000 |
Neuronal Ceroid-Lipofuscinoses
|
0.300 |
Biomarker
|
disease |
BEFREE |
Mutations in genes encoding three lysosomal enzymes are the causes for three early-onset forms of NCLs: palmitoyl-protein thioesterase 1 (PPT1) is deficient in human infantile NCL, tripeptidyl peptidase 1 (TTP1) in late-infantile NCL, and cathepsin D in congenital ovine NCL.
|
11001810 |
2000 |
Neuronal Ceroid-Lipofuscinoses
|
0.300 |
Biomarker
|
disease |
MGD |
Cathepsins B and D are dispensable for major histocompatibility complex class II-mediated antigen presentation.
|
9539769 |
1998 |
Neuronal Ceroid-Lipofuscinoses
|
0.300 |
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 |