Robinson BH - Search Results

1

Computational identification of human mitochondrial proteins based on homology to yeast mitochondrially targeted proteins.

Cameron JM, Hurd T, Robinson BH. Cameron JM, et al. Among authors: robinson bh. Bioinformatics. 2005 May 1;21(9):1825-30. doi: 10.1093/bioinformatics/bti280. Epub 2005 Jan 25. Bioinformatics. 2005. PMID: 15671119

2

Disruption of a mitochondrial RNA-binding protein gene results in decreased cytochrome b expression and a marked reduction in ubiquinol-cytochrome c reductase activity in mouse heart mitochondria.

Xu F, Ackerley C, Maj MC, Addis JB, Levandovskiy V, Lee J, Mackay N, Cameron JM, Robinson BH. Xu F, et al. Among authors: robinson bh. Biochem J. 2008 Nov 15;416(1):15-26. doi: 10.1042/BJ20080847. Biochem J. 2008. PMID: 18729827

3

LRPPRC mutation suppresses cytochrome oxidase activity by altering mitochondrial RNA transcript stability in a mouse model.

Xu F, Addis JB, Cameron JM, Robinson BH. Xu F, et al. Among authors: robinson bh. Biochem J. 2012 Jan 1;441(1):275-83. doi: 10.1042/BJ20110985. Biochem J. 2012. PMID: 21880015

4

Pyruvate dehydrogenase phosphatase deficiency: orphan disease or an under-diagnosed condition?

Maj MC, Cameron JM, Robinson BH. Maj MC, et al. Among authors: robinson bh. Mol Cell Endocrinol. 2006 Apr 25;249(1-2):1-9. doi: 10.1016/j.mce.2006.02.003. Epub 2006 Mar 29. Mol Cell Endocrinol. 2006. PMID: 16574315 Review.

5

Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation.

Maj MC, MacKay N, Levandovskiy V, Addis J, Baumgartner ER, Baumgartner MR, Robinson BH, Cameron JM. Maj MC, et al. Among authors: robinson bh. J Clin Endocrinol Metab. 2005 Jul;90(7):4101-7. doi: 10.1210/jc.2005-0123. Epub 2005 Apr 26. J Clin Endocrinol Metab. 2005. PMID: 15855260

6

Respiratory chain analysis of skin fibroblasts in mitochondrial disease.

Cameron JM, Levandovskiy V, MacKay N, Robinson BH. Cameron JM, et al. Among authors: robinson bh. Mitochondrion. 2004 Sep;4(5-6):387-94. doi: 10.1016/j.mito.2004.07.039. Epub 2004 Nov 2. Mitochondrion. 2004. PMID: 16120400

7

Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity.

Cameron JM, Levandovskiy V, Mackay N, Raiman J, Renaud DL, Clarke JT, Feigenbaum A, Elpeleg O, Robinson BH. Cameron JM, et al. Among authors: robinson bh. Am J Med Genet A. 2006 Jul 15;140(14):1542-52. doi: 10.1002/ajmg.a.31313. Am J Med Genet A. 2006. PMID: 16770810

8

Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization.

Cameron JM, Levandovskiy V, Mackay N, Ackerley C, Chitayat D, Raiman J, Halliday WH, Schulze A, Robinson BH. Cameron JM, et al. Among authors: robinson bh. Mitochondrion. 2011 Jan;11(1):191-9. doi: 10.1016/j.mito.2010.09.008. Epub 2010 Oct 30. Mitochondrion. 2011. PMID: 20920610

9

Identification of drug candidates which increase cytochrome c oxidase activity in deficient patient fibroblasts.

Maj M, Sriskandarajah N, Hung V, Browne I, Shah B, Weadge A, Jamieson NL, Tropak M, Cameron JM, Addis JB, Robinson BH. Maj M, et al. Among authors: robinson bh. Mitochondrion. 2011 Mar;11(2):264-72. doi: 10.1016/j.mito.2010.10.002. Epub 2010 Nov 2. Mitochondrion. 2011. PMID: 21050896

10

Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes.

Cameron JM, Janer A, Levandovskiy V, Mackay N, Rouault TA, Tong WH, Ogilvie I, Shoubridge EA, Robinson BH. Cameron JM, et al. Among authors: robinson bh. Am J Hum Genet. 2011 Oct 7;89(4):486-95. doi: 10.1016/j.ajhg.2011.08.011. Epub 2011 Sep 22. Am J Hum Genet. 2011. PMID: 21944046 Free PMC article.

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