Concepedia

Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes

Hanan E. Shamseldin, Muneera Alshammari, Tarfa Al‐Sheddi, Mustafa A. Salih, Hisham Alkhalidi, Amal Y. Kentab, Gabriela M. Repetto, Mais Hashem, Fowzan S. Alkuraya

Journal of Medical Genetics · 2012 · 180 citations · 26 references

DOI

Abstract

These findings expand the repertoire of genes that are mutated in patients with mitochondrial disorders and highlight the value of integrating genomic approaches in the evaluation of these patients.

References

26

Mff is an essential factor for mitochondrial recruitment of Drp1 during mitochondrial fission in mammalian cells

Hidenori Otera, Chunxin Wang, Megan M. Cleland et al. · The Journal of Cell Biology · 2010 · 1.1K citations

The Novel Tail-anchored Membrane Protein Mff Controls Mitochondrial and Peroxisomal Fission in Mammalian Cells

Shilpa Gandre-Babbe, Alexander M. van der Bliek · Molecular Biology of the Cell · 2008 · 757 citations · Full text

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A Lethal Defect of Mitochondrial and Peroxisomal Fission

Hans R. Waterham, Janet Koster, Carlo W.T. van Roermund et al. · New England Journal of Medicine · 2007 · 739 citations

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Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

Thomas Bourgeron, Pierre Rustin, Dominique Chrétien et al. · Nature Genetics · 1995 · 723 citations

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High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

Sarah E. Calvo, Elena J. Tucker, Alison G. Compton et al. · Nature Genetics · 2010 · 359 citations · Full text

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