CTSD, cathepsin D, 1509

N. diseases: 242; N. variants: 13
Disease: Juvenile Neuronal Ceroid Lipofuscinosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Neuronal Ceroid Lipofuscinosis 		0.210 GeneticVariation disease BEFREE We have shown recently that the targeted deletion of the pro-apoptotic molecule Bax prevents apoptotic markers but not neuron death and neurodegeneration induced by CD deficiency, which suggests that alterations in the macroautophagy-lysosomal degradation pathway can mediate neuron death in NCL/Batten Disease in the absence of apoptosis. 17495518 2007
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Neuronal Ceroid Lipofuscinosis 		0.210 Biomarker disease MGD Involvement of two different cell death pathways in retinal atrophy of cathepsin D-deficient mice. 12676526 2003
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Neuronal Ceroid Lipofuscinosis 		0.210 Biomarker disease MGD Involvement of nitric oxide released from microglia-macrophages in pathological changes of cathepsin D-deficient mice. 11567042 2001
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Neuronal Ceroid Lipofuscinosis 		0.210 Biomarker disease MGD Cathepsin D deficiency induces lysosomal storage with ceroid lipofuscin in mouse CNS neurons. 10995834 2000
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Neuronal Ceroid Lipofuscinosis 		0.210 Biomarker disease MGD Cathepsins B and D are dispensable for major histocompatibility complex class II-mediated antigen presentation. 9539769 1998
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Neuronal Ceroid Lipofuscinosis 		0.210 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