Sugiana C - Search Results

1

A mitochondrial protein compendium elucidates complex I disease biology.

Pagliarini DJ, Calvo SE, Chang B, Sheth SA, Vafai SB, Ong SE, Walford GA, Sugiana C, Boneh A, Chen WK, Hill DE, Vidal M, Evans JG, Thorburn DR, Carr SA, Mootha VK. Pagliarini DJ, et al. Among authors: sugiana c. Cell. 2008 Jul 11;134(1):112-23. doi: 10.1016/j.cell.2008.06.016. Cell. 2008. PMID: 18614015 Free PMC article.

2

Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease.

Sugiana C, Pagliarini DJ, McKenzie M, Kirby DM, Salemi R, Abu-Amero KK, Dahl HH, Hutchison WM, Vascotto KA, Smith SM, Newbold RF, Christodoulou J, Calvo S, Mootha VK, Ryan MT, Thorburn DR. Sugiana C, et al. Am J Hum Genet. 2008 Oct;83(4):468-78. doi: 10.1016/j.ajhg.2008.09.009. Am J Hum Genet. 2008. PMID: 18940309 Free PMC article.

3

NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency.

Kirby DM, Salemi R, Sugiana C, Ohtake A, Parry L, Bell KM, Kirk EP, Boneh A, Taylor RW, Dahl HH, Ryan MT, Thorburn DR. Kirby DM, et al. Among authors: sugiana c. J Clin Invest. 2004 Sep;114(6):837-45. doi: 10.1172/JCI20683. J Clin Invest. 2004. PMID: 15372108 Free PMC article.

4

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations.

Swalwell H, Kirby DM, Blakely EL, Mitchell A, Salemi R, Sugiana C, Compton AG, Tucker EJ, Ke BX, Lamont PJ, Turnbull DM, McFarland R, Taylor RW, Thorburn DR. Swalwell H, et al. Among authors: sugiana c. Eur J Hum Genet. 2011 Jul;19(7):769-75. doi: 10.1038/ejhg.2011.18. Epub 2011 Mar 2. Eur J Hum Genet. 2011. PMID: 21364701 Free PMC article.

5

Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease.

Dunning CJ, McKenzie M, Sugiana C, Lazarou M, Silke J, Connelly A, Fletcher JM, Kirby DM, Thorburn DR, Ryan MT. Dunning CJ, et al. Among authors: sugiana c. EMBO J. 2007 Jul 11;26(13):3227-37. doi: 10.1038/sj.emboj.7601748. Epub 2007 Jun 7. EMBO J. 2007. PMID: 17557076 Free PMC article.

6

Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders.

Thorburn DR, Sugiana C, Salemi R, Kirby DM, Worgan L, Ohtake A, Ryan MT. Thorburn DR, et al. Among authors: sugiana c. Biochim Biophys Acta. 2004 Dec 6;1659(2-3):121-8. doi: 10.1016/j.bbabio.2004.08.006. Biochim Biophys Acta. 2004. PMID: 15576043 Free article. Review.

7

Molecular diagnosis of mitochondrial respiratory chain disorders in Japan: focusing on mitochondrial DNA depletion syndrome.

Yamazaki T, Murayama K, Compton AG, Sugiana C, Harashima H, Amemiya S, Ajima M, Tsuruoka T, Fujinami A, Kawachi E, Kurashige Y, Matsushita K, Wakiguchi H, Mori M, Iwasa H, Okazaki Y, Thorburn DR, Ohtake A. Yamazaki T, et al. Among authors: sugiana c. Pediatr Int. 2014 Apr;56(2):180-7. doi: 10.1111/ped.12249. Epub 2014 Mar 6. Pediatr Int. 2014. PMID: 24266892

8

BAK/BAX macropores facilitate mitochondrial herniation and mtDNA efflux during apoptosis.

McArthur K, Whitehead LW, Heddleston JM, Li L, Padman BS, Oorschot V, Geoghegan ND, Chappaz S, Davidson S, San Chin H, Lane RM, Dramicanin M, Saunders TL, Sugiana C, Lessene R, Osellame LD, Chew TL, Dewson G, Lazarou M, Ramm G, Lessene G, Ryan MT, Rogers KL, van Delft MF, Kile BT. McArthur K, et al. Among authors: sugiana c. Science. 2018 Feb 23;359(6378):eaao6047. doi: 10.1126/science.aao6047. Science. 2018. PMID: 29472455

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