NUBPL Research

Balk, J. “Discovery of the NUBPL gene and its role in Complex 1 assembly.” Discovery of the NUBPL gen2

Calvo, S. “High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency”. PMID 20818383.

Kevelam, S. “NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern”. Neurology 80 (17): 1577–1583. PMID 23553477

P.S. Eis, E. Hatchwell, J.W. Langston, B. Schüle. Genetic Variations in Mitochondrial Complex I Genes Are Associated with Parkinson’s Disease. Keystone Symposium: Parkinson’s Disease: Genetics, Mechanisms and Therapeutics, Keystone CO, March 2014.

P.S. Eis, B. Schüle, S. Kim, J.W. Langston, V.E. Kimonis, E. Hatchwell. NUBPL mutations link Parkinson’s disease and other movement disorders to recessive Complex I deficiency. Abstract/Program #1403. Presented at the 66th Annual Meeting of The American Society of Human Genetics, October 2016, Vancouver, Canada. eis_etal_ashg_2016_11oct2016_11x17

V. Kimonis, P.S. Eis, S. Parikh, D. Scott, M.K. Koenig, A. Maclean, S. Tang, A.N. Hasso, M. Wydro, J. Balk, E. Chao, E. Hatchwell. Mitochondrial studies in a novel disorder associated with NUBPL associated mitochondrial complex I deficiency in patients with global developmental delays, ataxia, cerebellar and pons hypoplasia. Abstract/Program #2519. Presented at 66th Annual Meeting of The American Society of Human Genetics, October 2016, Vancouver, Canada. ashg_abstract_2519_-kimonis_et_al_oct_2016-2

Sheftel, A. “Human Ind1, an Iron-Sulfur Cluster Assembly Factor for Respiratory Complex I”. Retrieved 25 April 2015

Sheftel, A. “Human ind1, an iron-sulfur cluster assembly factor for respiratory complex I”. Mol. Cell. Biol. 29 (22): 6059–6073. PMID 19752196.



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