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
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 typ...
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| Published in | Data Science Vol. 5; no. 1; pp. 57 - 59 |
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| Main Author | |
| Format | Journal Article |
| Language | English |
| Published |
22.03.2022
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| Online Access | Get full text |
| ISSN | 2451-8484 2451-8492 |
| DOI | 10.3233/DS-210048 |
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| Summary: | 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. |
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| ISSN: | 2451-8484 2451-8492 |
| DOI: | 10.3233/DS-210048 |