Pathogenic mutations in NUBPL affect complex I activity and cold tolerance in the yeast model Yarrowia lipolytica

Author:

Maclean Andrew E12,Kimonis Virginia E34,Balk Janneke12

Affiliation:

1. Department of Biological Chemistry, John Innes Centre, Norwich NR4 7UH, UK

2. School of Biological Sciences, University of East Anglia, Norwich NR4 7TJ, UK

3. Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, USA

4. Children’s Hospital of Orange County, Orange, CA, USA

Funder

John Innes Foundation

Spooner Girls Foundation

UC Irvine Institute for Clinical and Translational Science

Center for Autism Research

Biotechnology and Biological Sciences Research Council

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Reference42 articles.

1. High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency;Calvo;Nat. Genet.,2010

2. Mitochondrial complex I-linked disease. Biochim. Biophys;Rodenburg;Acta,2016

3. The genetics and pathology of mitochondrial disease;Alston;J. Pathol.,2017

4. Complex I deficiency: Clinical features, biochemistry and molecular genetics;Fassone;J. Med. Genet.,2012

5. Mitochondrial complex I;Hirst;Annu. Rev. Biochem.,2013

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