PMC Links for Nucleotide (Select 1519311948) - PMC

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Items: 15

Select item 57134461.

Altered Aconitase 2 Activity in Huntington’s Disease Peripheral Blood Cells and Mouse Model Striatum

Chiung-Mei Chen, Yih-Ru Wu, Kuo-Hsuan Chang

Int J Mol Sci. 2017 Nov; 18(11): 2480. Published online 2017 Nov 21. doi: 10.3390/ijms18112480

PMCID:: PMC5713446

Abstract Article PDF–2.2M

Select item 66251332.

Identification of novel compound heterozygous mutations in ACO2 in a patient with progressive cerebral and cerebellar atrophy

Masahide Fukada, Keitaro Yamada, Shima Eda, Ken Inoue, Chihiro Ohba, Naomichi Matsumoto, Hirotomo Saitsu, Atsuo Nakayama

Mol Genet Genomic Med. 2019 Jul; 7(7): e00698. Published online 2019 May 20. doi: 10.1002/mgg3.698

PMCID:: PMC6625133

Abstract Article PDF–1.0M

Select item 64235943.

Mutation of IDH1 aggravates the fatty acid-induced oxidative stress in HCT116 cells by affecting the mitochondrial respiratory chain

Sheng Li, Chao Sun, Yu Gu, Xing Gao, Yuanlin Zhao, Yuan Yuan, Feng Zhang, Peizhen Hu, Weihua Liang, Kaiyu Cao, Jin Zhang, Zhe Wang, Jing Ye

Mol Med Rep. 2019 Apr; 19(4): 2509–2518. Published online 2019 Jan 28. doi: 10.3892/mmr.2019.9903

PMCID:: PMC6423594

Abstract Article PDF–1.7M

Select item 55156844.

Increased Survival and Partly Preserved Cognition in a Patient with ACO2-Related Disease Secondary to a Novel Variant

Siddharth Srivastava, Cynthia S. Gubbels, Kira Dies, Anne Fulton, Timothy Yu, Mustafa Sahin

J Child Neurol. Author manuscript; available in PMC 2018 Aug 1.

Published in final edited form as: J Child Neurol. 2017 Aug; 32(9): 840–845. Published online 2017 May 25. doi: 10.1177/0883073817711527

PMCID:: PMC5515684

Abstract Article PDF–714K

Select item 54130205.

Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency

Lucia Abela, Ronen Spiegel, Lisa M. Crowther, Andrea Klein, Katharina Steindl, Sorina Mihaela Papuc, Pascal Joset, Yoav Zehavi, Anita Rauch, Barbara Plecko, Thomas Luke Simmons

PLoS One. 2017; 12(5): e0176363. Published online 2017 May 2. doi: 10.1371/journal.pone.0176363

PMCID:: PMC5413020

Abstract Article PDF–5.9M

Select item 48336606.

Functional Cellular Analyses Reveal Energy Metabolism Defect and Mitochondrial DNA Depletion in a Case of Mitochondrial Aconitase Deficiency

Roa Sadat, Emanuele Barca, Ruchi Masand, Taraka Donti, Ali Naini, Darryl C. De Vivo, Salvatore DiMauro, Neil A. Hanchard, Brett H. Graham

Mol Genet Metab. Author manuscript; available in PMC 2017 May 1.

Published in final edited form as: Mol Genet Metab. 2016 May; 118(1): 28–34. Published online 2016 Mar 8. doi: 10.1016/j.ymgme.2016.03.004

PMCID:: PMC4833660

Abstract Article PDF–826K

Select item 45087507.

An R132H Mutation in Isocitrate Dehydrogenase 1 Enhances p21 Expression and Inhibits Phosphorylation of Retinoblastoma Protein in Glioma Cells

Satsuki Miyata, Masashi Urabe, Akira Gomi, Mutsumi Nagai, Takashi Yamaguchi, Tomonori Tsukahara, Hiroaki Mizukami, Akihiro Kume, Keiya Ozawa, Eiju Watanabe

Neurol Med Chir (Tokyo) 2013 Oct; 53(10): 645–654. Published online 2013 Oct 25. doi: 10.2176/nmc.oa2012-0409

PMCID:: PMC4508750

Abstract Article PDF–1.0M

Select item 37533008.

Frequency of Rare Allelic Variation in Candidate Genes among Individuals with Low and High Urinary Calcium Excretion

Hakan R. Toka, Giulio Genovese, David B. Mount, Martin R. Pollak, Gary C. Curhan

PLoS One. 2013; 8(8): e71885. Published online 2013 Aug 26. doi: 10.1371/journal.pone.0071885

PMCID:: PMC3753300

Abstract Article PDF–604K

Select item 33233599.

Identification of a biomarker panel for colorectal cancer diagnosis

Amaia García-Bilbao, Rubén Armañanzas, Ziortza Ispizua, Begoña Calvo, Ana Alonso-Varona, Iñaki Inza, Pedro Larrañaga, Guillermo López-Vivanco, Blanca Suárez-Merino, Mónica Betanzos

BMC Cancer. 2012; 12: 43. Published online 2012 Jan 26. doi: 10.1186/1471-2407-12-43