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New term request for Somerville PMID 40299299 #2387

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earlEBI opened this issue May 13, 2025 · 0 comments
Open

New term request for Somerville PMID 40299299 #2387

earlEBI opened this issue May 13, 2025 · 0 comments

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@earlEBI
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earlEBI commented May 13, 2025

Preferred term label

glucocerebrosidase activity

Synonyms

GCase activity

Textual definition

Quantification of glucocerebrosidase (GCase) activity. GCase is a lysosomal enzyme.

Suggested parent term

EFO: protein measurement
OBA: enzyme/coenzyme activity trait - https://www.ebi.ac.uk/ols4/ontologies/oba/classes/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FOBA_VT0005584?lang=en

further info

The sample was measured in blood

from text

The dried blood spots were incubated in a reaction cocktail with substrates for the enzymes and buffer. Enzyme activity measurements were determined by calculating the amount of product obtained after the incubation, under the assumption that this is a direct indication of the activity of the enzymes.
GCase deficiency has been associated with an increased PD risk

similar existing terms

EFO: https://www.ebi.ac.uk/ols4/ontologies/efo/classes/http%253A%252F%252Fwww.ebi.ac.uk%252Fefo%252FEFO_0004910
OBA: https://www.ebi.ac.uk/ols4/ontologies/oba/classes/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FOBA_0003355?lang=en

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