PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes

This work demonstrates that pathogenic variants in PISD cause mitochondrial disease and suggests a novel mechanistic link whereby impaired lipid content in the inner mitochondrial membrane alters the activity of inner mitochondrial membrane proteases. Exome sequencing of two sisters with congenital...

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Detalhes bibliográficos

Principais autores:	Tian Zhao, Caitlin M Goedhart, Pingdewinde N Sam, Rasha Sabouny, Susanne Lingrell, Adam J Cornish, Ryan E Lamont, Francois P Bernier, David Sinasac, Jillian S Parboosingh, Jean E Vance, Steven M Claypool, A Micheil Innes, Timothy E Shutt
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Life Science Alliance LLC 2019-04-01
coleção:	Life Science Alliance
Acesso em linha:	https://www.life-science-alliance.org/lookup/doi/10.26508/lsa.201900353
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