PMC Links for Nucleotide (Select 1519245097) - PMC - NCBI

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Items: 7

Select item 37013201.

Crystal Structures of Malonyl-Coenzyme A Decarboxylase Provide Insights into Its Catalytic Mechanism and Disease-Causing Mutations

D. Sean Froese, Farhad Forouhar, Timothy H. Tran, Melanie Vollmar, Yi Seul Kim, Scott Lew, Helen Neely, Jayaraman Seetharaman, Yang Shen, Rong Xiao, Thomas B. Acton, John K. Everett, Giuseppe Cannone, Sriharsha Puranik, Pavel Savitsky, Tobias Krojer, Ewa S. Pilka, Wasim Kiyani, Wen Hwa Lee, Brian D. Marsden, Frank von Delft, Charles K. Allerston, Laura Spagnolo, Opher Gileadi, Gaetano T. Montelione, Udo Oppermann, Wyatt W. Yue, Liang Tong

Structure. 2013 Jul 2; 21(7): 1182–1192. doi: 10.1016/j.str.2013.05.001

PMCID:: PMC3701320

Abstract Article PDF–3.4M

Select item 36368782.

Structural Asymmetry and Disulfide Bridges among Subunits Modulate the Activity of Human Malonyl-CoA Decarboxylase

David Aparicio, Rosa Pérez-Luque, Xavier Carpena, Mireia Díaz, Joan C. Ferrer, Peter C. Loewen, Ignacio Fita

J Biol Chem. 2013 Apr 26; 288(17): 11907–11919. Published online 2013 Mar 11. doi: 10.1074/jbc.M112.443846

PMCID:: PMC3636878

Abstract Article PDF–5.9M

Select item 13779303.

The molecular basis of malonyl-CoA decarboxylase deficiency.

D R FitzPatrick, A Hill, J L Tolmie, D R Thorburn, J Christodoulou

Am J Hum Genet. 1999 Aug; 65(2): 318–326. doi: 10.1086/302492

PMCID:: PMC1377930

Summary PDF–329K

Select item 69131404.

Identification of a novel MYOC variant in a Hispanic family with early-onset primary open-angle glaucoma with elevated intraocular pressure

June Criscione, Weizhen Ji, Lauren Jeffries, James M. McGrath, Scott Soloway, Lajos Pusztai, Saquib Lakhani

Cold Spring Harb Mol Case Stud. 2019 Dec; 5(6): a004374. doi: 10.1101/mcs.a004374

PMCID:: PMC6913140

Abstract Article PDF–1.6M

Select item 55381915.

A novel frameshift mutation of malonyl‐CoA decarboxylase deficiency: clinical signs and therapy response of a late‐diagnosed case

Melike Ersoy, Mehmet Bedir Akyol, Serdar Ceylaner, Nihan Çakır Biçer

Clin Case Rep. 2017 Aug; 5(8): 1284–1288. Published online 2017 Jun 28. doi: 10.1002/ccr3.1013

PMCID:: PMC5538191

Abstract Article PDF–278K

Select item 50787866.

The use of targeted genomic capture and massively parallel sequencing in diagnosis of Chinese Leukoencephalopathies

Xiaole Wang, Fang He, Fei Yin, Chao Chen, Liwen Wu, Lifen Yang, Jing Peng

Sci Rep. 2016; 6: 35936. Published online 2016 Oct 25. doi: 10.1038/srep35936

PMCID:: PMC5078786

Abstract Article PDF–661K

Select item 29997907.

Evidence of aberrant lipid metabolism in hepatitis C and hepatocellular carcinoma

Jian-Min Wu, Nicholas J Skill, Mary A Maluccio

HPB (Oxford) 2010 Nov; 12(9): 625–636. doi: 10.1111/j.1477-2574.2010.00207.x

PMCID:: PMC2999790

Abstract Article PDF–513K

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