PMC Articles for MedGen (Select 75693) - PMC

Junxiang Zhou, Xin Wang, Min Wang, Yuwei Chang, Fengxia Zhang, Zhaonan Ban, Ruofeng Tang, Qiwen Gan, Shaohuan Wu, Ye Guo, Qian Zhang, Fengyang Wang, Liyuan Zhao, Yudong Jing, Wenfeng Qian, Guodong Wang, Weixiang Guo, Chonglin Yang

J Cell Biol. 2019 Feb 4; 218(2): 580–597. doi: 10.1083/jcb.201807204

PMCID:: PMC6363459

Abstract Article PDF–4.9M

Select item 57144456.

Metabolomic Analysis Reveals That the Drosophila melanogaster Gene lysine Influences Diverse Aspects of Metabolism

Samantha L. St. Clair, Hongde Li, Usman Ashraf, Jonathan A. Karty, Jason M. Tennessen

Genetics. 2017 Dec; 207(4): 1255–1261. Published online 2017 Oct 5. doi: 10.1534/genetics.117.300201

PMCID:: PMC5714445

Abstract Article PDF–908K

Select item 36266817.

Genetic basis of hyperlysinemia

Sander M Houten, Heleen te Brinke, Simone Denis, Jos PN Ruiter, Alida C Knegt, Johannis BC de Klerk, Persephone Augoustides-Savvopoulou, Johannes Häberle, Matthias R Baumgartner, Turgay Coşkun, Johannes Zschocke, Jörn Oliver Sass, Bwee Tien Poll-The, Ronald JA Wanders, Marinus Duran

Orphanet J Rare Dis. 2013; 8: 57. Published online 2013 Apr 9. doi: 10.1186/1750-1172-8-57

PMCID:: PMC3626681

Abstract Article PDF–406K

Select item 81223078.

Saccharopinuria accompanied by hyperammonemia and hypercitrullinemia presented with elderly-onset epilepsy, progressive cognitive decline, and gait ataxia

Ryohei Norioka, Shinsuke Tobisawa, Ryusei Nishigori, Tomiko Kuhara, Masahide Yazaki, Masayoshi Nagao, Toshihiro Ohura, Yasuyuki Takai, Asuka Funai, Kazuhito Miyamoto, Akihiro Kawata, Kazushi Takahashi

Intractable Rare Dis Res. 2021 May; 10(2): 126–130. doi: 10.5582/irdr.2021.01003

PMCID:: PMC8122307

Abstract Article PDF–1.5M

Select item 2504579.

Effects of Supersuppressor Genes on Enzymes Controlling Lysine Biosynthesis in Saccharomyces

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rsten A. Fjellstedt, Maurice Ogur

J Bacteriol. 1970 Jan; 101(1): 108–117. doi: 10.1128/jb.101.1.108-117.1970

PMCID:: PMC250457

Summary Page Browse PDF–1.4M

Select item 810114710.

Down regulation of the expression of mitochondrial phosphopantetheinyl-proteins in pantothenate kinase-associated neurodegeneration: pathophysiological consequences and therapeutic perspectives

Mónica Álvarez-Córdoba, Marta Talaverón-Rey, Irene Villalón-García, Suleva Povea-Cabello, Juan M. Suárez-Rivero, Alejandra Suárez-Carrillo, Manuel Munuera-Cabeza, Joaquín J. Salas, José A. Sánchez-Alcázar

Orphanet J Rare Dis. 2021; 16: 201. Published online 2021 May 5. doi: 10.1186/s13023-021-01823-3