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Items: 16

1.
Molecular basis of maple syrup urine disease: novel mutations at the E1 alpha locus that impair E1(alpha 2 beta 2) assembly or decrease steady-state E1 alpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complex.
J. L. Chuang, C. R. Fisher, R. P. Cox, D. T. Chuang
Am J Hum Genet. 1994 Aug; 55(2): 297–304.
PMCID:
PMC1918348
SummaryPage BrowsePDF–1.6M
2.
Occurrence of a Tyr393----Asn (Y393N) mutation in the E1 alpha gene of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite population.
C R Fisher, C W Fisher, D T Chuang, R P Cox
Am J Hum Genet. 1991 Aug; 49(2): 429–434.
PMCID:
PMC1683290
SummaryPage BrowsePDF–1.1M
3.
The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)
Genome Res. 2004 Oct; 14(10b): 2121–2127. doi: 10.1101/gr.2596504
Correction in:
Genome Res. 2006 Jun; 16(6): 804.
PMCID:
PMC528928
AbstractArticlePDF–140K
4.
Molecular and biochemical basis of intermediate maple syrup urine disease. Occurrence of homozygous G245R and F364C mutations at the E1 alpha locus of Hispanic-Mexican patients.
J L Chuang, J R Davie, J M Chinsky, R M Wynn, R P Cox, D T Chuang
J Clin Invest. 1995 Mar; 95(3): 954–963. doi: 10.1172/JCI117804
PMCID:
PMC441427
SummaryPage BrowsePDF–2.7M
5.
Evidence for both a regulatory mutation and a structural mutation in a family with maple syrup urine disease.
B Zhang, H J Edenberg, D W Crabb, R A Harris
J Clin Invest. 1989 Apr; 83(4): 1425–1429. doi: 10.1172/JCI114033
PMCID:
PMC303839
SummaryPage BrowsePDF–1.0M
6.
Maple syrup urine disease in Mennonites. Evidence that the Y393N mutation in E1 alpha impedes assembly of the E1 component of branched-chain alpha-keto acid dehydrogenase complex.
C R Fisher, J L Chuang, R P Cox, C W Fisher, R A Star, D T Chuang
J Clin Invest. 1991 Sep; 88(3): 1034–1037. doi: 10.1172/JCI115363
PMCID:
PMC295513
SummaryPage BrowsePDF–916K
7.
Proteomic Analysis of Placental Mitochondria Following Trophoblast Differentiation
Joshua J. Fisher, Daniel R. McKeating, James S. Cuffe, Tina Bianco-Miotto, Olivia J. Holland, Anthony V. Perkins
Front Physiol. 2019; 10: 1536. Published online 2019 Dec 20. doi: 10.3389/fphys.2019.01536
PMCID:
PMC6933824
AbstractArticlePDF–1.2M
8.
Quantitative proteomic analyses of CD4+ and CD8+ T cells reveal differentially expressed proteins in multiple sclerosis patients and healthy controls
Tone Berge, Anna Eriksson, Ina Skaara Brorson, Einar August Høgestøl, Pål Berg-Hansen, Anne Døskeland, Olav Mjaavatten, Steffan Daniel Bos, Hanne F. Harbo, Frode Berven
Clin Proteomics. 2019; 16: 19. Published online 2019 May 8. doi: 10.1186/s12014-019-9241-5
PMCID:
PMC6505067
AbstractArticlePDF–2.2M
9.
Proteomic distinction of renal oncocytomas and chromophobe renal cell carcinomas
Vanessa Drendel, Bianca Heckelmann, Christoph Schell, Lucas Kook, Martin L. Biniossek, Martin Werner, Cordula A. Jilg, Oliver Schilling
Clin Proteomics. 2018; 15: 25. Published online 2018 Aug 3. doi: 10.1186/s12014-018-9200-6
PMCID:
PMC6074034
AbstractArticlePDF–1.7M
10.
Evaluation of variability in high-resolution protein structures by global distance scoring
Risa Anzai, Yoshiki Asami, Waka Inoue, Hina Ueno, Koya Yamada, Tetsuji Okada
Heliyon. 2018 Jan; 4(1): e00510. Published online 2018 Feb 1. doi: 10.1016/j.heliyon.2018.e00510
PMCID:
PMC5857612
AbstractArticlePDF–2.1M
11.
Muscle molecular adaptations to endurance exercise training are conditioned by glycogen availability: a proteomics‐based analysis in the McArdle mouse model
Carmen Fiuza‐Luces, Alejandro Santos‐Lozano, Francisco Llavero, Rocío Campo, Gisela Nogales‐Gadea, Jorge Díez‐Bermejo, Carlos Baladrón, África González‐Murillo, Joaquín Arenas, Miguel A. Martín, Antoni L. Andreu, Tomàs Pinós, Beatriz G. Gálvez, Juan A. López, Jesús Vázquez, José L. Zugaza, Alejandro Lucia
J Physiol. 2018 Mar 15; 596(6): 1035–1061. Published online 2018 Feb 14. doi: 10.1113/JP275292
PMCID:
PMC5851888
AbstractArticlePDF–2.2M
12.
Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease
Faiqa Imtiaz, Abeer Al-Mostafa, Rabab Allam, Khushnooda Ramzan, Nada Al-Tassan, Asma I. Tahir, Nouf S. Al-Numair, Mohamed H. Al-Hamed, Zuhair Al-Hassnan, Mohammad Al-Owain, Hamad Al-Zaidan, Mohammad Al-Amoudi, Alya Qari, Ameera Balobaid, Moeenaldeen Al-Sayed
Mol Genet Metab Rep. 2017 Jun; 11: 17–23. Published online 2017 Apr 7. doi: 10.1016/j.ymgmr.2017.03.006
PMCID:
PMC5388912
AbstractArticlePDF–801K
13.
The effect of disease on human cardiac protein expression profiles in paired samples from right and left ventricles
Ben Littlejohns, Kate Heesom, Gianni D Angelini, M-Saadeh Suleiman
Clin Proteomics. 2014; 11(1): 34. Published online 2014 Sep 1. doi: 10.1186/1559-0275-11-34
PMCID:
PMC4158351
AbstractArticlePDF–836K
14.
BCKDH: The Missing Link in Apicomplexan Mitochondrial Metabolism Is Required for Full Virulence of Toxoplasma gondii and Plasmodium berghei
Rebecca D. Oppenheim, Darren J. Creek, James I. Macrae, Katarzyna K. Modrzynska, Paco Pino, Julien Limenitakis, Valerie Polonais, Frank Seeber, Michael P. Barrett, Oliver Billker, Malcolm J. McConville, Dominique Soldati-Favre
PLoS Pathog. 2014 Jul; 10(7): e1004263. Published online 2014 Jul 17. doi: 10.1371/journal.ppat.1004263
PMCID:
PMC4102578
AbstractArticlePDF–1.9M
15.
Identification of Protein Targets of Reactive Metabolites of Tienilic Acid in Human Hepatocytes
Yakov M. Koen, Diganta Sarma, Todd D. Williams, Nadezhda A. Galeva, R. Scott Obach, Robert P. Hanzlik
Chem Res Toxicol. Author manuscript; available in PMC 2013 May 21.
Published in final edited form as: Chem Res Toxicol. 2012 May 21; 25(5): 1145–1154. Published online 2012 Apr 10. doi: 10.1021/tx300103j
PMCID:
PMC3358484
AbstractArticlePDF–1.3M
16.
Phosphoproteome Analysis of Functional Mitochondria Isolated from Resting Human Muscle Reveals Extensive Phosphorylation of Inner Membrane Protein Complexes and Enzymes
Xiaolu Zhao, Ileana R. León, Steffen Bak, Martin Mogensen, Krzysztof Wrzesinski, Kurt Højlund, Ole Nørregaard Jensen
Mol Cell Proteomics. 2011 Jan; 10(1): M110.000299. Published online 2010 Sep 10. doi: 10.1074/mcp.M110.000299
PMCID:
PMC3013442
AbstractArticlePDF–310K

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