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Literature summary for 3.2.1.45 extracted from

  • Clark, L.N.; Kartsaklis, L.A.; Wolf Gilbert, R.; Dorado, B.; Ross, B.M.; Kisselev, S.; Verbitsky, M.; Mejia-Santana, H.; Cote, L.J.; Andrews, H.; Vonsattel, J.P.; Fahn, S.; Mayeux, R.; Honig, L.S.; Marder, K.
    Association of glucocerebrosidase mutations with dementia with lewy bodies (2009), Arch. Neurol., 66, 578-583.
    View publication on PubMedView publication on EuropePMC

Application

Application Comment Organism
medicine GBA mutations are associated with pathologically purer Lewy body disorders, characterized by more extensive (cortical) Lewy body, and less severe Alzheimer disease pathological findings and are a useful marker for Lewy body disorders Homo sapiens

Protein Variants

Protein Variants Comment Organism
D409H the GBA mutation is associated with severe Lewy body disorder Homo sapiens
E326K the GBA mutation is associated with Lewy body disorder Homo sapiens
E326K/N188R the GBA mutation is associated with Lewy body disorder Homo sapiens
E388K the GBA mutation is associated with Lewy body disorder Homo sapiens
G389V the GBA mutation is associated with Lewy body disorder Homo sapiens
H255Q the GBA mutation is associated with severe Lewy body disorder Homo sapiens
L444P the GBA mutation is associated with severe Lewy body disorder Homo sapiens
N370S the GBA mutation is associated with mild Lewy body disorder Homo sapiens
P171P the GBA mutation is associated with Lewy body disorder Homo sapiens
R463C the GBA mutation is associated with severe Lewy body disorder Homo sapiens
R496H the GBA mutation is associated with mild Lewy body disorder Homo sapiens
T369M the GBA mutation is associated with Lewy body disorder Homo sapiens
W184R the GBA mutation is associated with Lewy body disorder Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
brain
-
Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
glucosylceramide + H2O
-
Homo sapiens beta-D-glucose + ceramide
-
?

Synonyms

Synonyms Comment Organism
GBA
-
Homo sapiens
glucocerebrosidase
-
Homo sapiens