PMC Articles for MedGen (Select 349092) - PMC

Select item 68622261.

Inducible Slc7a7 Knockout Mouse Model Recapitulates Lysinuric Protein Intolerance Disease

Susanna Bodoy, Fernando Sotillo, Meritxell Espino-Guarch, Maria Pia Sperandeo, Aida Ormazabal, Antonio Zorzano, Gianfranco Sebastio, Rafael Artuch, Manuel Palacín

Int J Mol Sci. 2019 Nov; 20(21): 5294. Published online 2019 Oct 24. doi: 10.3390/ijms20215294

PMCID:: PMC6862226

Article PDF–80M

Select item 43586992.

The hyperornithinemia–hyperammonemia-homocitrullinuria syndrome

Diego Martinelli, Daria Diodato, Emanuela Ponzi, Magnus Monné, Sara Boenzi, Enrico Bertini, Giuseppe Fiermonte, Carlo Dionisi-Vici

Orphanet J Rare Dis. 2015; 10: 29. Published online 2015 Mar 11. doi: 10.1186/s13023-015-0242-9

PMCID:: PMC4358699

Article PDF–1.1M

Select item 43526663.

Citrulline Protects Streptococcus pyogenes from Acid Stress Using the Arginine Deiminase Pathway and the F₁F_o-ATPase

Zachary T. Cusumano, Michael G. Caparon

J Bacteriol. 2015 Apr; 197(7): 1288–1296. Prepublished online 2015 Feb 2. Published online 2015 Mar 6. doi: 10.1128/JB.02517-14

PMCID:: PMC4352666

Article PDF–1.1M

Select item 42852334.

Specific analogues uncouple transport, signalling, oligo-ubiquitination and endocytosis in the yeast Gap1 amino acid transceptor

Griet Van Zeebroeck, Marta Rubio-Texeira, Joep Schothorst, Johan M Thevelein

Mol Microbiol. 2014 Jul; 93(2): 213–233. Published online 2014 Jun 10. doi: 10.1111/mmi.12654

PMCID:: PMC4285233

Article PDF–15M

Select item 35753495.

Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests

Li-Yun Wang, Nien-I Chen, Pin-Wen Chen, Shu-Chuan Chiang, Wuh-Liang Hwu, Ni-Chung Lee, Yin-Hsiu Chien

BMC Med Genet. 2013; 14: 24. Published online 2013 Feb 10. doi: 10.1186/1471-2350-14-24

PMCID:: PMC3575349

Article PDF–234K

Select item 34102486.

The First Korean Case of Lysinuric Protein Intolerance: Presented with Short Stature and Increased Somnolence

Jung Min Ko, Choong Ho Shin, Sei Won Yang, Moon Woo Seong, Sung Sup Park, Junghan Song

J Korean Med Sci. 2012 Aug; 27(8): 961–964. Published online 2012 Jul 25. doi: 10.3346/jkms.2012.27.8.961

PMCID:: PMC3410248

Article PDF–667K

Select item 14196677.

Intestinal absorption in lysinuric protein intolerance: impaired for diamino acids, normal for citrulline.

J Rajantie, O Simell, J Perheentupa

Gut. 1980 Jun; 21(6): 519–524. doi: 10.1136/gut.21.6.519

PMCID:: PMC1419667

Summary Page Browse PDF–877K

Select item 494378.

Isolation of a gene encoding a chaperonin-like protein by complementation of yeast amino acid transport mutants with human cDNA.

G B Segel, T R Boal, T S Cardillo, F G Murant, M A Lichtman, F Sherman

Proc Natl Acad Sci U S A. 1992 Jul 1; 89(13): 6060–6064. doi: 10.1073/pnas.89.13.6060

PMCID:: PMC49437

Summary Page Browse PDF–1.3M

Select item 66126599.

mRNA Therapy Improves Metabolic and Behavioral Abnormalities in a Murine Model of Citrin Deficiency

Jingsong Cao, Ding An, Mikel Galduroz, Jenny Zhuo, Shi Liang, Marianne Eybye, Andrea Frassetto, Eishi Kuroda, Aki Funahashi, Jordan Santana, Cosmin Mihai, Kerry E. Benenato, E. Sathyajith Kumarasinghe, Staci Sabnis, Timothy Salerno, Kimberly Coughlan, Edward J. Miracco, Becca Levy, Gilles Besin, Joshua Schultz, Christine Lukacs, Lin Guey, Patrick Finn, Tatsuhiko Furukawa, Paloma H. Giangrande, Takeyori Saheki, Paolo G.V. Martini

Mol Ther. 2019 Jul 3; 27(7): 1242–1251. Published online 2019 Apr 23. doi: 10.1016/j.ymthe.2019.04.017

PMCID:: PMC6612659

Article PDF–902K

Select item 332312910.

The role of deimination in ATP5b mRNA transport in a transgenic mouse model of multiple sclerosis

Di Ding, Mabel Enriquez-Algeciras, Kunjan R Dave, Miguel Perez-Pinzon, Sanjoy K Bhattacharya

EMBO Rep. 2012 Mar; 13(3): 230–236. Published online 2012 Jan 20. doi: 10.1038/embor.2011.264

PMCID:: PMC3323129

Article PDF–857K

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