PMC Links for Nucleotide (Select 1519243015) - PMC

Select item 54732111.

Structure of the human aminopeptidase XPNPEP3 and comparison of its in vitro activity with Icp55 orthologs: Insights into diverse cellular processes

Rahul Singh, Sahayog N. Jamdar, Venuka Durani Goyal, Ashwani Kumar, Biplab Ghosh, Ravindra D. Makde

J Biol Chem. 2017 Jun 16; 292(24): 10035–10047. Published online 2017 May 5. doi: 10.1074/jbc.M117.783357

PMCID:: PMC5473211

Abstract Article PDF–4.6M

Select item 39130432.

Mutation Analysis of 18 Nephronophthisis-associated Ciliopathy Disease Genes using a DNA Pooling and Next-Generation Sequencing Strategy

Edgar A. Otto, Gokul Ramaswami, Sabine Janssen, Moumita Chaki, Susan J. Allen, Weibin Zhou, Rannar Airik, Toby W. Hurd, Amiya K. Ghosh, Matthias T. Wolf, Bernd Hoppe, Thomas J. Neuhaus, Detlef Bockenhauer, David V. Milford, Neveen A. Soliman, the GPN Study Group, Corinne Antignac, Sophie Saunier, Colin A. Johnson, Friedhelm Hildebrandt

J Med Genet. Author manuscript; available in PMC 2014 Feb 4.

Published in final edited form as: J Med Genet. 2011 Feb; 48(2): 105–116. Published online 2010 Nov 10. doi: 10.1136/jmg.2010.082552

Correction in:: J Med Genet. 2015 Dec; 52(12): 866.

PMCID:: PMC3913043

Abstract Article PDF–3.0M

Select item 37928843.

Mitochondrial Aminopeptidase Deletion Increases Chronological Lifespan and Oxidative Stress Resistance while Decreasing Respiratory Metabolism in S. cerevisiae

Erine M. Stames, John F. O'Toole

PLoS One. 2013; 8(10): e77234. Published online 2013 Oct 8. doi: 10.1371/journal.pone.0077234

PMCID:: PMC3792884

Abstract Article PDF–753K

Select item 28279514.

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy

John F. O’Toole, Yangjian Liu, Erica E. Davis, Christopher J. Westlake, Massimo Attanasio, Edgar A. Otto, Dominik Seelow, Gudrun Nurnberg, Christian Becker, Matti Nuutinen, Mikko Kärppä, Jaakko Ignatius, Johanna Uusimaa, Salla Pakanen, Elisa Jaakkola, Lambertus P. van den Heuvel, Henry Fehrenbach, Roger Wiggins, Meera Goyal, Weibin Zhou, Matthias T.F. Wolf, Eric Wise, Juliana Helou, Susan J. Allen, Carlos A. Murga-Zamalloa, Shazia Ashraf, Moumita Chaki, Saskia Heeringa, Gil Chernin, Bethan E. Hoskins, Hassan Chaib, Joseph Gleeson, Takehiro Kusakabe, Takako Suzuki, R. Elwyn Isaac, Lynne M. Quarmby, Bryan Tennant, Hisashi Fujioka, Hannu Tuominen, Ilmo Hassinen, Hellevi Lohi, Judith L. van Houten, Agnes Rotig, John A. Sayer, Boris Rolinski, Peter Freisinger, Sethu M. Madhavan, Martina Herzer, Florence Madignier, Holger Prokisch, Peter Nurnberg, Peter Jackson, Hemant Khanna, Nicholas Katsanis, Friedhelm Hildebrandt

J Clin Invest. 2010 Mar 1; 120(3): 791–802. Published online 2010 Feb 22. doi: 10.1172/JCI40076

Correction in:: J Clin Invest. 2010 Apr 1; 120(4): 1362.

PMCID:: PMC2827951

Abstract Article PDF–4.0M

Select item 5456045.

A genome annotation-driven approach to cloning the human ORFeome

John E Collins, Charmain L Wright, Carol A Edwards, Matthew P Davis, James A Grinham, Charlotte G Cole, Melanie E Goward, Begoña Aguado, Meera Mallya, Younes Mokrab, Elizabeth J Huckle, David M Beare, Ian Dunham

Genome Biol. 2004; 5(10): R84. Published online 2004 Sep 30. doi: 10.1186/gb-2004-5-10-r84

PMCID:: PMC545604

Abstract Article PDF–762K

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