WormBase Tree Display for Disease_model_annotation: WBDOannot00001305
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| WBDOannot00001305 | Disease_term | DOID:450 | |
|---|---|---|---|
| Disease_of_species | Homo sapiens | ||
| Modeled_by | Genotype | WBGenotype00000141 | |
| Association_type | is_ameliorated_model_of | ||
| Evidence_code | GO_code | IMP | |
| ECO_term | ECO:0007013 | ||
| Modifier_info | Modifier_gene | WBGene00000371 | |
| Modifier_association_type | condition_ameliorated_by | ||
| Genetic_sex | hermaphrodite | ||
| Paper_evidence | WBPaper00062167 | ||
| Disease_model_description | The human Muscleblind-like (MBNL) protein family consists of MBNL1, MBNL2, and MBNL3 and MBNL dysfunction is implicated in many degenerative diseases including myotonic dystrophy; in C. elegans, loss of the MBNL, mbl-1, results in shortened lifespan by decreasing the activity of p38 MAPK/PMK-1 as well as the function of transcription factors ATF-7 and SKN-1. Furthermore, knockdown of mitochondrial electron transport chain components promotes the longevity of mbl-1 mutants in a partially PMK-1-dependent manner, suggesting that mitochondrial stress could alleviate symptoms caused by the dysfunction of MBNL, creating a potential approach to investigate for therapy. | ||
| Curator_confirmed | WBPerson324 | ||
| Date_last_updated | 01 Aug 2022 00:00:00 |
