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Select item 80235101.

BH₄-deficient hyperphenylalaninemia in Russia

Polina Gundorova, Irina A. Kuznetcova, Galina V. Baydakova, Anna A. Stepanova, Yulia S. Itkis, Victoria S. Kakaulina, Irina P. Alferova, Lidya V. Lyazina, Lilya P. Andreeva, Ilya Kanivets, Ekaterina Y. Zakharova, Sergey I. Kutsev, Aleksander V. Polyakov

PLoS One. 2021; 16(4): e0249608. Published online 2021 Apr 6. doi: 10.1371/journal.pone.0249608

PMCID:: PMC8023510

Abstract Article PDF–627K

Select item 77498582.

Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth.

Francesca Manzoni, Elisabetta Salvatici, Alberto Burlina, Ashley Andrews, Marzia Pasquali, Nicola Longo

Mol Genet Metab. Author manuscript; available in PMC 2021 Dec 1.

Published in final edited form as: Mol Genet Metab. 2020 Dec; 131(4): 380–389. Published online 2020 Nov 18. doi: 10.1016/j.ymgme.2020.11.004

PMCID:: PMC7749858

Abstract Article PDF–1.0M

Select item 48760383.

Elucidating Common Structural Features of Human Pathogenic Variations Using Large-Scale Atomic-Resolution Protein Networks

Jishnu Das, Hao Ran Lee, Adithya Sagar, Robert Fragoza, Jin Liang, Xiaomu Wei, Xiujuan Wang, Matthew Mort, Peter D. Stenson, David N. Cooper, Haiyuan Yu

Hum Mutat. Author manuscript; available in PMC 2016 May 22.

Published in final edited form as: Hum Mutat. 2014 May; 35(5): 585–593. Published online 2014 Apr 7. doi: 10.1002/humu.22534

PMCID:: PMC4876038

Abstract Article PDF–1.0M

Select item 19182604.

Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase.

B. Thöny, W. Leimbacher, N. Blau, A. Harvie, C. W. Heizmann

Am J Hum Genet. 1994 May; 54(5): 782–792.

PMCID:: PMC1918260

Summary Page Browse PDF–1.8M

Select item 18684715.

Sepiapterin reductase expression is increased in Parkinson’s disease brain tissue.

Jennifer E. Tobin, Jing Cui, Jemma B. Wilk, Jeanne C. Latourelle, Jason M. Laramie, Ann C. McKee, Mark Guttman, Samer Karamohamed, Anita L. DeStefano, Richard H. Myers

Brain Res. Author manuscript; available in PMC 2007 May 14.

Published in final edited form as: Brain Res. 2007 Mar 30; 1139: 42–47. Published online 2007 Jan 8. doi: 10.1016/j.brainres.2007.01.001

PMCID:: PMC1868471

Abstract Article PDF–74K

Select item 12209246.

Tetrahydrobiopterin biosynthesis, regeneration and functions.

B Thöny, G Auerbach, N Blau

Biochem J. 2000 Apr 1; 347(Pt 1): 1–16.

PMCID:: PMC1220924

Summary PDF–551K

Select item 29477947.

Examination of Association to Autism of Common Genetic Variation in Genes Related to Dopamine

B.M. Anderson, N. Schnetz-Boutaud, J. Bartlett, H.H. Wright, R.K. Abramson, M.L. Cuccaro, J.R. Gilbert, M.A. Pericak-Vance, J.L. Haines

Autism Res. Author manuscript; available in PMC 2010 Sep 30.

Published in final edited form as: Autism Res. 2008 Dec; 1(6): 364–369. doi: 10.1002/aur.55

PMCID:: PMC2947794

Abstract Article PDF–133K

Select item 27842558.

Examination of Tetrahydrobiopterin Pathway Genes in Autism

N.C. Schnetz-Boutaud, B.M. Anderson, K.D. Brown, H.H. Wright, R.K. Abramson, M.L. Cuccaro, J.R. Gilbert, M.A. Pericak-Vance, J.L. Haines

Genes Brain Behav. Author manuscript; available in PMC 2010 Nov 1.

Published in final edited form as: Genes Brain Behav. 2009 Nov; 8(8): 753–757. Published online 2009 Jul 14. doi: 10.1111/j.1601-183X.2009.00521.x

PMCID:: PMC2784255

Abstract Article PDF–159K

Select item 60395019.

CUEDC2, a novel interacting partner of the SOCS1 protein, plays important roles in the leukaemogenesis of acute myeloid leukaemia

Qing-Yun Wu, Yuan-Yuan Zhu, Yang Liu, Fang Wei, Yu-Xue Tong, Jiang Cao, Ping Zhou, Ming-Shan Niu, Zhen-Yu Li, Ling-Yu Zeng, Feng Li, Kai-Lin Xu

Cell Death Dis. 2018 Jul; 9(7): 774. Published online 2018 Jul 10. doi: 10.1038/s41419-018-0812-6

PMCID:: PMC6039501

Abstract Article PDF–2.7M

Select item 426337110.

A Massively Parallel Pipeline to Clone DNA Variants and Examine Molecular Phenotypes of Human Disease Mutations

Xiaomu Wei, Jishnu Das, Robert Fragoza, Jin Liang, Francisco M. Bastos de Oliveira, Hao Ran Lee, Xiujuan Wang, Matthew Mort, Peter D. Stenson, David N. Cooper, Steven M. Lipkin, Marcus B. Smolka, Haiyuan Yu

PLoS Genet. 2014 Dec; 10(12): e1004819. Published online 2014 Dec 11. doi: 10.1371/journal.pgen.1004819

PMCID:: PMC4263371

Abstract Article PDF–7.6M

Select item 356152211.

Deubiquitinase FAM/USP9X Interacts with the E3 Ubiquitin Ligase SMURF1 Protein and Protects It from Ligase Activity-dependent Self-degradation

Yang Xie, Monika Avello, Markus Schirle, Elizabeth McWhinnie, Yan Feng, Eva Bric-Furlong, Christopher Wilson, Robin Nathans, Jing Zhang, Marc W. Kirschner, Shih-Min A. Huang, Feng Cong

J Biol Chem. 2013 Feb 1; 288(5): 2976–2985. Published online 2012 Nov 26. doi: 10.1074/jbc.M112.430066

PMCID:: PMC3561522

Abstract Article PDF–1.1M

Select item 390095312.

Protein Interaction Screening for the Ankyrin Repeats and Suppressor of Cytokine Signaling (SOCS) Box (ASB) Family Identify Asb11 as a Novel Endoplasmic Reticulum Resident Ubiquitin Ligase

Christina Aaen Andresen, Stine Smedegaard, Kathrine Beck Sylvestersen, Charlotte Svensson, Diego Iglesias-Gato, Giuseppe Cazzamali, Tine Kragh Nielsen, Michael Lund Nielsen, Amilcar Flores-Morales

J Biol Chem. 2014 Jan 24; 289(4): 2043–2054. Published online 2013 Dec 11. doi: 10.1074/jbc.M113.534602

PMCID:: PMC3900953

Abstract Article PDF–1.7M

Select item 31116313.

Protein–Protein Interaction Panel Using Mouse Full-Length cDNAs

Harukazu Suzuki, Yoshifumi Fukunishi, Ikuko Kagawa, Rintaro Saito, Hiroshi Oda, Toshinori Endo, Shinji Kondo, Hidemasa Bono, Yasushi Okazaki, Yoshihide Hayashizaki

Genome Res. 2001 Oct; 11(10): 1758–1765. doi: 10.1101/gr.180101

PMCID:: PMC311163

Abstract Article PDF–205K

Select item 936044314.

Interaction of LATS1 with SMAC links the MST2/Hippo pathway with apoptosis in an IAP-dependent manner

Lucía García-Gutiérrez, Emma Fallahi, Nourhan Aboud, Niall Quinn, David Matallanas

Cell Death Dis. 2022 Aug; 13(8): 692. Published online 2022 Aug 8. doi: 10.1038/s41419-022-05147-3

PMCID:: PMC9360443

Abstract Article PDF–5.8M

Select item 796884415.

GREB1: An evolutionarily conserved protein with a glycosyltransferase domain links ERα glycosylation and stability to cancer

Eun Myoung Shin, Vinh Thang Huynh, Sultan Abda Neja, Chia Yi Liu, Anandhkumar Raju, Kelly Tan, Nguan Soon Tan, Jayantha Gunaratne, Xuezhi Bi, Lakshminarayan M. Iyer, L. Aravind, Vinay Tergaonkar

Sci Adv. 2021 Mar; 7(12): eabe2470. Published online 2021 Mar 17. doi: 10.1126/sciadv.abe2470

PMCID:: PMC7968844

Abstract Article PDF–1.1M

Select item 671347516.

Systematic identification of cancer cell vulnerabilities to natural killer cell-mediated immune surveillance

Matthew F Pech, Linda E Fong, Jacqueline E Villalta, Leanne JG Chan, Samir Kharbanda, Jonathon J O'Brien, Fiona E McAllister, Ari J Firestone, Calvin H Jan, Jeffrey Settleman

eLife. 2019; 8: e47362. Published online 2019 Aug 27. doi: 10.7554/eLife.47362

PMCID:: PMC6713475

Abstract Article PDF–4.6M

Select item 287256117.

An empirical framework for binary interactome mapping

Kavitha Venkatesan, Jean-François Rual, Alexei Vazquez, Ulrich Stelzl, Irma Lemmens, Tomoko Hirozane-Kishikawa, Tong Hao, Martina Zenkner, Xiaofeng Xin, Kwang-II Goh, Muhammed A Yildirim, Nicolas Simonis, Kathrin Heinzmann, Fana Gebreab, Julie M Sahalie, Sebiha Cevik, Christophe Simon, Anne-Sophie de Smet, Elizabeth Dann, Alex Smolyar, Arunachalam Vinayagam, Haiyuan Yu, David Szeto, Heather Borick, Amélie Dricot, Niels Klitgord, Ryan R Murray, Chenwei Lin, Maciej Lalowski, Jan Timm, Kirstin Rau, Charles Boone, Pascal Braun, Michael E Cusick, Frederick P Roth, David E Hill, Jan Tavernier, Erich E Wanker, Albert-László Barabási, Marc Vidal

Nat Methods. Author manuscript; available in PMC 2010 May 18.

Published in final edited form as: Nat Methods. 2009 Jan; 6(1): 83–90. Published online 2008 Dec 7. doi: 10.1038/nmeth.1280

PMCID:: PMC2872561

Abstract Article PDF–1.0M

Select item 557737618.

Blocking an N-terminal acetylation–dependent protein interaction inhibits an E3 ligase

Daniel C. Scott, Jared T. Hammill, Jaeki Min, David Y. Rhee, Michele Connelly, Vladislav O. Sviderskiy, Deepak Bhasin, Yizhe Chen, Su-Sien Ong, Sergio C. Chai, Asli N. Goktug, Guochang Huang, Julie K. Monda, Jonathan Low, Ho Shin Kim, Joao A. Paulo, Joe R. Cannon, Anang A. Shelat, Taosheng Chen, Ian R. Kelsall, Arno F. Alpi, Vishwajeeth Pagala, Xusheng Wang, Junmin Peng, Bhuvanesh Singh, J. Wade Harper, Brenda A. Schulman, R. Kip Guy

Nat Chem Biol. Author manuscript; available in PMC 2017 Dec 5.

Published in final edited form as: Nat Chem Biol. 2017 Aug; 13(8): 850–857. Published online 2017 Jun 5. doi: 10.1038/nchembio.2386

PMCID:: PMC5577376

Abstract Article PDF–1.2M

Select item 108373219.

Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing

Jeremy C. Simpson, Ruth Wellenreuther, Annemarie Poustka, Rainer Pepperkok, Stefan Wiemann

EMBO Rep. 2000 Sep 15; 1(3): 287–292. doi: 10.1093/embo-reports/kvd058

PMCID:: PMC1083732

Abstract Article PDF–375K

Select item 607643920.

The tumor suppressor CIC directly regulates MAPK pathway genes via histone deacetylation

Simon Weissmann, Paul A. Cloos, Simone Sidoli, Ole N. Jensen, Steven Pollard, Kristian Helin

Cancer Res. Author manuscript; available in PMC 2019 Feb 1.

Published in final edited form as: Cancer Res. 2018 Aug 1; 78(15): 4114–4125. Published online 2018 May 29. doi: 10.1158/0008-5472.CAN-18-0342

PMCID:: PMC6076439

Abstract Article PDF–2.5M

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