PMC Articles for MedGen (Select 871118) - PMC

Select item 74138861.

Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia

Ralf A. Husain, Mona Grimmel, Matias Wagner, J. Christopher Hennings, Christian Marx, René G. Feichtinger, Abdelkrim Saadi, Kevin Rostásy, Florentine Radelfahr, Andrea Bevot, Marion Döbler-Neumann, Hans Hartmann, Laurence Colleaux, Isabell Cordts, Xenia Kobeleva, Hossein Darvish, Somayeh Bakhtiari, Michael C. Kruer, Arnaud Besse, Andy Cheuk-Him Ng, Diana Chiang, Francois Bolduc, Abbas Tafakhori, Shrikant Mane, Saghar Ghasemi Firouzabadi, Antje K. Huebner, Rebecca Buchert, Stefanie Beck-Woedl, Amelie J. Müller, Lucia Laugwitz, Thomas Nägele, Zhao-Qi Wang, Tim M. Strom, Marc Sturm, Thomas Meitinger, Thomas Klockgether, Olaf Riess, Thomas Klopstock, Ulrich Brandl, Christian A. Hübner, Marcus Deschauer, Johannes A. Mayr, Penelope E. Bonnen, Ingeborg Krägeloh-Mann, Saskia B. Wortmann, Tobias B. Haack

Am J Hum Genet. 2020 Aug 6; 107(2): 364–373. Published online 2020 Jul 23. doi: 10.1016/j.ajhg.2020.06.015

PMCID:: PMC7413886

Article PDF–1.0M

Select item 68253192.

Tissue-specific FAH deficiency alters sleep–wake patterns and results in chronic tyrosinemia in mice

Shuzhang Yang, Sandra M. Siepka, Kimberly H. Cox, Vivek Kumar, Marleen de Groot, Yogarany Chelliah, Jun Chen, Benjamin Tu, Joseph S. Takahashi

Proc Natl Acad Sci U S A. 2019 Oct 29; 116(44): 22229–22236. Published online 2019 Oct 14. doi: 10.1073/pnas.1904485116

PMCID:: PMC6825319

Article PDF–1.5M

Select item 66144863.

4-hydroxyphenylpyruvate dioxygenase promotes lung cancer growth via pentose phosphate pathway (PPP) flux mediated by LKB1-AMPK/HDAC10/G6PD axis

Changliang Shan, Zhaoliang Lu, Zhen Li, Hao Sheng, Jun Fan, Qi Qi, Shuangping Liu, Shuai Zhang

Cell Death Dis. 2019 Jul; 10(7): 525. Published online 2019 Jul 8. doi: 10.1038/s41419-019-1756-1

PMCID:: PMC6614486

Article PDF–2.8M

Select item 50092814.

Genetically Programmed Changes in Photosynthetic Cofactor Metabolism in Copper-deficient Chlamydomonas

Daniela Strenkert, Clariss Ann Limso, Abdelhak Fatihi, Stefan Schmollinger, Gilles J. Basset, Sabeeha S. Merchant

J Biol Chem. 2016 Sep 2; 291(36): 19118–19131. Published online 2016 Jul 20. doi: 10.1074/jbc.M116.717413

PMCID:: PMC5009281

Article PDF–4.1M

Select item 37397885.

The Interactions in the Carboxyl Terminus of Human 4-Hydroxyphenylpyruvate Dioxygenase Are Critical to Mediate the Conformation of the Final Helix and the Tail to Shield the Active Site for Catalysis

Jang-Foung Lin, Yung-Lin Sheih, Tsu-Chung Chang, Ni-Yuan Chang, Chiung-Wen Chang, Chia-Pei Shen, Hwei-Jen Lee

PLoS One. 2013; 8(8): e69733. Published online 2013 Aug 9. doi: 10.1371/journal.pone.0069733

PMCID:: PMC3739788

Article PDF–1.7M

Select item 21686286.

Burkholderia cenocepacia C5424 Produces a Pigment with Antioxidant Properties Using a Homogentisate Intermediate

Karen E. Keith, Lauren Killip, Panqing He, Graham R. Moran, Miguel A. Valvano

J Bacteriol. 2007 Dec; 189(24): 9057–9065. Published online 2007 Oct 12. doi: 10.1128/JB.00436-07

PMCID:: PMC2168628

Article PDF–511K

Select item 19490067.

Two-pronged survival strategy for the major cystic fibrosis pathogen, Pseudomonas aeruginosa, lacking the capacity to degrade nitric oxide during anaerobic respiration

Sang Sun Yoon, Ahmet C Karabulut, John D Lipscomb, Robert F Hennigan, Sergei V Lymar, Stephanie L Groce, Andrew B Herr, Michael L Howell, Patricia J Kiley, Michael J Schurr, Benjamin Gaston, Kyoung-Hee Choi, Herbert P Schweizer, Daniel J Hassett

EMBO J. 2007 Aug 8; 26(15): 3662–3672. Published online 2007 Jul 12. doi: 10.1038/sj.emboj.7601787

PMCID:: PMC1949006

Article PDF–361K

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