A formalization of one of the main claims of “Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway” by Enns et al. 2014 1
Open accessOtherFirst published online March 22, 2022
A formalization of one of the main claims of “Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway” by Enns et al. 2014 1
Enns et al. claimed in previous work that NGLY1 deficiency is a novel autosomal recessive disorder of the ERAD pathway. We present here a formalization of that claim, stating that all things of class “NGLY1 deficiency” that are in the context of a thing of class “human” always have a relation of type “is caused by” to a thing of class “dysfunction of ERAD pathway” in the same context.
Enns et al. [2] state that “NGLY1 deficiency is a novel autosomal recessive disorder of the endoplasmic reticulum–associated degradation pathway.”. We present here a formalization of the main scientific claim from this quote by using a semantic template called the super-pattern [1].
In the context class we use the class “human” (Q5) from Wikidata. In the subject class, we use the class “NGLY1 deficiency” from Mondo Disease Ontology. In the object class we minted a new class “dysfunction of ERAD pathway” that is related to the class “ERAD pathway” (Q21101062) from Wikidata.
RDF code
This is our formalization as a nanopublication in TriG format:
C.I.Bucur, T.Kuhn, D.Ceolin and J.van Ossenbruggen, Expressing high-level scientific claims with formal semantics, in: Proceedings of the 11th Knowledge Capture Conference, 2021. doi:10.1145/3460210.3493561.
2.
G.Enns, V.Shashi, M.Bainbridgeet al., Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway, Genet Med16 (2014), 751–758. doi:10.1038/gim.2014.22.
