PMC Links for Nucleotide (Select 429535863) - PMC

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Items: 4

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 34871232.

A Mutation in PNPT1, Encoding Mitochondrial-RNA-Import Protein PNPase, Causes Hereditary Hearing Loss

Simon von Ameln, Geng Wang, Redouane Boulouiz, Mark A. Rutherford, Geoffrey M. Smith, Yun Li, Hans-Martin Pogoda, Gudrun Nürnberg, Barbara Stiller, Alexander E. Volk, Guntram Borck, Jason S. Hong, Richard J. Goodyear, Omar Abidi, Peter Nürnberg, Kay Hofmann, Guy P. Richardson, Matthias Hammerschmidt, Tobias Moser, Bernd Wollnik, Carla M. Koehler, Michael A. Teitell, Abdelhamid Barakat, Christian Kubisch

Am J Hum Genet. 2012 Nov 2; 91(5): 919–927. doi: 10.1016/j.ajhg.2012.09.002

PMCID:: PMC3487123

Article PDF–1.1M

Select item 1391963.

Identification and cloning of human polynucleotide phosphorylase, hPNPase^old-35, in the context of terminal differentiation and cellular senescence

Magdalena Leszczyniecka, Dong-chul Kang, Devanand Sarkar, Zao-zhong Su, Matthew Holmes, Kristoffer Valerie, Paul B. Fisher

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16636–16641. Published online 2002 Dec 9. doi: 10.1073/pnas.252643699

PMCID:: PMC139196

Article PDF–396K

Select item 51597634.

Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease

Ahmad Alodaib, Nara Sobreira, Wendy A Gold, Lisa G Riley, Nicole J Van Bergen, Meredith J Wilson, Bruce Bennetts, David R Thorburn, Corinne Boehm, John Christodoulou

Eur J Hum Genet. 2017 Jan; 25(1): 79–84. Published online 2016 Oct 19. doi: 10.1038/ejhg.2016.128