Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila

Defects in organelle dynamics underlie a number of human degenerative disorders, and whole exome sequencing (WES) is a powerful tool for studying genetic changes that affect the cellular machinery. WES may uncover variants of unknown significance (VUS) that require functional validation. Previously,...

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Publicado no:Hum Mol Genet
Main Authors: Chao, Yu-Hsin, Robak, Laurie A., Xia, Fan, Koenig, Mary K., Adesina, Adekunle, Bacino, Carlos A., Scaglia, Fernando, Bellen, Hugo J., Wangler, Michael F.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2016
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5007591/
https://ncbi.nlm.nih.gov/pubmed/26931468
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddw059
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