PMC Articles for MedGen (Select 1648395) - PMC - NCBI

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Select item 34871361.

Mutation in PNPT1, which Encodes a Polyribonucleotide Nucleotidyltransferase, Impairs RNA Import into Mitochondria and Causes Respiratory-Chain Deficiency

Vanessa Vedrenne, Ali Gowher, Pascale De Lonlay, Patrick Nitschke, Valérie Serre, Nathalie Boddaert, Cecilia Altuzarra, Anne-Marie Mager-Heckel, Florence Chretien, Nina Entelis, Arnold Munnich, Ivan Tarassov, Agnès Rötig

Am J Hum Genet. 2012 Nov 2; 91(5): 912–918. doi: 10.1016/j.ajhg.2012.09.001

PMCID:: PMC3487136

Article PDF–748K

Select item 33399272.

Tyrosyl-DNA Phosphodiesterase 1 (TDP1) Repairs DNA Damage Induced by Topoisomerases I and II and Base Alkylation in Vertebrate Cells

Junko Murai, Shar-yin N. Huang, Benu Brata Das, Thomas S. Dexheimer, Shunichi Takeda, Yves Pommier

J Biol Chem. 2012 Apr 13; 287(16): 12848–12857. Published online 2012 Feb 27. doi: 10.1074/jbc.M111.333963

PMCID:: PMC3339927

Article PDF–2.5M

Select item 26016693.

Introduction of cytochrome b mutations in Saccharomyces cerevisiae by a method that allows selection for both functional and nonfunctional cytochrome b proteins

Martina G. Ding, Christine A. Butler, Scott A. Saracco, Thomas D. Fox, François Godard, Jean-Paul di Rago, Bernard L. Trumpower

Biochim Biophys Acta. Author manuscript; available in PMC 2009 Sep 1.

Published in final edited form as: Biochim Biophys Acta. 2008 Sep; 1777(9): 1147–1156. Published online 2008 Apr 27. doi: 10.1016/j.bbabio.2008.04.029

PMCID:: PMC2601669

Article PDF–841K

Select item 14616904.

Rpm2, the protein subunit of mitochondrial RNase P in Saccharomyces cerevisiae, also has a role in the translation of mitochondrially encoded subunits of cytochrome c oxidase.

V Stribinskis, G J Gao, S R Ellis, N C Martin

Genetics. 2001 Jun; 158(2): 573–585. doi: 10.1093/genetics/158.2.573

PMCID:: PMC1461690

Summary PDF–488K

Select item 13772995.

A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency.

J C von Kleist-Retzow, V Cormier-Daire, P de Lonlay, B Parfait, D Chretien, P Rustin, J Feingold, A Rötig, A Munnich

Am J Hum Genet. 1998 Aug; 63(2): 428–435. doi: 10.1086/301957

PMCID:: PMC1377299

Summary PDF–856K

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PMC Articles for MedGen (Select 1648395) (5)
PMC
Hepatitis C virus isolate B2034 nonstructural protein NS3-4A gene, partial cds
Hepatitis C virus isolate B2034 nonstructural protein NS3-4A gene, partial cds
gi|908271016|gb|KT234372.1|

Nucleotide
nonstructural protein NS3-4A protease, partial [Hepacivirus hominis]
nonstructural protein NS3-4A protease, partial [Hepacivirus hominis]
gi|1050193737|gb|ANY99143.1|

Protein
txid3052230[orgn] AND "isolate BB4C4"[All Fields] (1)
PopSet
Hepacivirus hominis polyprotein gene, partial cds.
Hepacivirus hominis polyprotein gene, partial cds.
PopSet: 33637120

PopSet

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