Open AccessA 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. 20141
Author(s) -
Núria Queralt-Rosiñach
Publication year - 2022
Publication title -
data science
Language(s) - English
Resource type - Journals
eISSN - 2451-8492
pISSN - 2451-8484
DOI - 10.3233/ds-210048
Subject(s) - endoplasmic reticulum associated protein degradation , context (archaeology) , endoplasmic reticulum , class (philosophy) , relation (database) , genetics , biology , computer science , artificial intelligence , data mining , unfolded protein response , paleontology
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.