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Items: 7

1.

Miglustat

A synthetic, N-alkylated imino analogue of D-glucose. Miglustat competitively and reversibly binds to and inhibits the activity of UDP-glucose ceramide glucosyltransferase, which catalyzes the initial step in the synthesis of glycosphingolipids (GSL). This leads to a decrease in the production of glycosphingolipid, which has important roles in various cellular processes. Miglustat can be used in substrate reduction therapy in diseases in which the enzyme glucocerebrosidase, that is responsible for the breakdown of GSL, is deficient. [from NCI]

MedGen UID:
232946
Concept ID:
C1321596
Organic Chemical; Pharmacologic Substance
2.

GM 2 gangliosidosis

A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS. [from MeSH]

MedGen UID:
78656
Concept ID:
C0268274
Disease or Syndrome
3.

Gangliosidosis

A group of autosomal recessive lysosomal storage disorders marked by the accumulation of GANGLIOSIDES. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the LYSOSOMES. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway. [from MeSH]

MedGen UID:
42149
Concept ID:
C0017083
Disease or Syndrome
4.

1,5-Dideoxy-1,5-imino-D-mannitol

MedGen UID:
209343
Concept ID:
C0886652
Organic Chemical; Pharmacologic Substance
5.

Moranoline

MedGen UID:
163880
Concept ID:
C0878419
Organic Chemical; Pharmacologic Substance
6.

1,5-Deoxy-1,5-imino-D-mannitol

MedGen UID:
58189
Concept ID:
C0162831
Organic Chemical; Pharmacologic Substance
7.

Gm2-gangliosidosis, juvenile

MedGen UID:
432914
Concept ID:
CN068769
Disease or Syndrome
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