gangliosidosis

They may sometimes be associated with extremely rare -- seen in fewer than one in every 100,000 newborns -- metabolic problems such as mucopolysaccharidosis or gangliosidosis.

CNN.com 2011

Breed ailments to be aware of: Addison's disease, cancer, hip dysplasia, inflammatory bowel disease, allergies and skin issues, various eye diseases, GM1 gangliosidosis (a fatal genetic disorder), juvenile dilated cardiomyopathy, seizures

Sunjournal - Connecting you with your Community 2009

In contrast, CD failed to ameliorate cholesterol or glycosphingolipid storage in GM1 gangliosidosis and MPS IIIA disease.

PLoS ONE Alerts: New Articles Cristin D. Davidson et al. 2009

Chronic treatment of MPS IIIA and GM1 gangliosidosis mice with CD does not improve disease state

PLoS ONE Alerts: New Articles Cristin D. Davidson et al. 2009

GM1 gangliosidosis is also the result of a lysosomal enzymatic deficiency, β-galactosidase, which catabolizes GM1 to GM2 ganglioside, making GM1 the primary storage material.

PLoS ONE Alerts: New Articles Cristin D. Davidson et al. 2009

Npc2 −/− mice showed benefits similar to NPC1 disease, however, mice with GM1 gangliosidosis or MPS IIIA failed to show reduction in storage.

PLoS ONE Alerts: New Articles Cristin D. Davidson et al. 2009

Our finding that CD is beneficial in reducing cholesterol and GSLs in neurons lacking either NPC1 or NPC2 proteins, but not in neurons in GM1 gangliosidosis or MPS IIIA, may be revealing of the importance of cholesterol's mobility in the NPC-affected cell compared with other lysosomal diseases.

PLoS ONE Alerts: New Articles Cristin D. Davidson et al. 2009

Jeyakumar M, Thomas R, Elliot-Smith E, Smith DA, van der Spoel AC, et al. (2003) Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis.

PLoS ONE Alerts: New Articles Cristin D. Davidson et al. 2009

We reasoned that other lysosomal diseases characterized by cholesterol and GSL accumulation, including NPC disease due to NPC2 deficiency, GM1 gangliosidosis and mucopolysaccharidosis (MPS) type IIIA, might likewise benefit from CD treatment.

PLoS ONE Alerts: New Articles Cristin D. Davidson et al. 2009

(A, B) Filipin labeling of unesterified cholesterol (A) and IHC of GM1 ganglioside (B) in neocortex of untreated (138 days old) and CD-treated (start at P21; 138 days old) mice with GM1 gangliosidosis.

PLoS ONE Alerts: New Articles Cristin D. Davidson et al. 2009