PMC Links for Gene (Select 443) - PMC

Sarah K. Gersing, Yong Wang, Martin Grønbæk-Thygesen, Caroline Kampmeyer, Lene Clausen, Martin Willemoës, Claes Andréasson, Amelie Stein, Kresten Lindorff-Larsen, Rasmus Hartmann-Petersen

PLoS Genet. 2021 Apr; 17(4): e1009539. Published online 2021 Apr 29. doi: 10.1371/journal.pgen.1009539

PMCID:: PMC8084241

Abstract Article PDF–3.6M

Select item 26668504.

Examination of the Mechanism of Human Brain Aspartoacylase through the Binding of an Intermediate Analogue

Johanne Le Coq, Alexander Pavlovsky, Radhika Malik, Ruslan Sanishvili, Chengfu Xu, Ronald E. Viola

Biochemistry. Author manuscript; available in PMC 2009 Apr 8.

Published in final edited form as: Biochemistry. 2008 Mar 18; 47(11): 3484–3492. Published online 2008 Feb 23. doi: 10.1021/bi702400x

PMCID:: PMC2666850

Abstract Article PDF–2.2M

Select item 25668225.

Characterization of Human Aspartoacylase: the brain enzyme responsible for Canavan disease

Johanne Le Coq, Hyun-Joo An, Carlito Lebrilla, Ronald E. Viola

Biochemistry. Author manuscript; available in PMC 2008 Oct 13.

Published in final edited form as: Biochemistry. 2006 May 9; 45(18): 5878–5884. doi: 10.1021/bi052608w

PMCID:: PMC2566822

Abstract Article PDF–637K

Select item 19334836.

Mutational Analysis of Aspartoacylase: Implications for Canavan Disease

Jeremy R. Hershfield, Nagarajan Pattabiraman, Chikkathur N. Madhavarao, M.A. Aryan Namboodiri

Brain Res. Author manuscript; available in PMC 2008 Jun 1.

Published in final edited form as: Brain Res. 2007 May 7; 1148: 1–14. Published online 2007 Mar 3. doi: 10.1016/j.brainres.2007.02.069

PMCID:: PMC1933483

Abstract Article PDF–1.0M

Select item 19182217.

Canavan disease: mutations among Jewish and non-jewish patients.

R. Kaul, G. P. Gao, M. Aloya, K. Balamurugan, A. Petrosky, K. Michals, R. Matalon

Am J Hum Genet. 1994 Jul; 55(1): 34–41.

PMCID:: PMC1918221

Summary Page Browse PDF–1.5M

Select item 19150918.

Identification and expression of eight novel mutations among non-Jewish patients with Canavan disease.

R. Kaul, G. P. Gao, R. Matalon, M. Aloya, Q. Su, M. Jin, A. B. Johnson, R. B. Schutgens, J. T. Clarke

Am J Hum Genet. 1996 Jul; 59(1): 95–102.

PMCID:: PMC1915091

Summary Page Browse PDF–1.1M

Select item 18012729.

The Molecular Basis of Canavan (Aspartoacylase Deficiency) Disease in European Non-Jewish Patients

A. Shaag, Y. Anikster, E. Christensen, J. Z. Glustein, A. Fois, H. Michelakakis, F. Nigro, E. Pronicka, A. Ribes, M. T. Zabot, O. N. Elpeleg

Am J Hum Genet. 1995 Sep; 57(3): 572–580.

PMCID:: PMC1801272

Summary Page Browse PDF–1.6M

Select item 173524510.

Two novel aspartoacylase gene (ASPA) missense mutations specific to Norwegian and Swedish patients with Canavan disease

T Olsen, L Tranebjaerg, E Kvittingen, L Hagenfeldt, C Moller, O Nilssen

J Med Genet. 2002 Sep; 39(9): e55. doi: 10.1136/jmg.39.9.e55

PMCID:: PMC1735245

Summary PDF–108K

Select item 637486911.

First Record Mutations in the Genes ASPA and ARSA Causing Leukodystrophy in Jordan

Tawfiq Froukh

Biomed Res Int. 2019; 2019: 7235914. Published online 2019 Jan 30. doi: 10.1155/2019/7235914

PMCID:: PMC6374869

Abstract Article PDF–1.2M

Select item 176640612.

Structure of aspartoacylase, the brain enzyme impaired in Canavan disease

Eduard Bitto, Craig A. Bingman, Gary E. Wesenberg, Jason G. McCoy, George N. Phillips, Jr.

Proc Natl Acad Sci U S A. 2007 Jan 9; 104(2): 456–461. Published online 2006 Dec 28. doi: 10.1073/pnas.0607817104

PMCID:: PMC1766406

Abstract Article PDF–1.9M

Select item 327853013.

Expression and localization of myosin-1d in the developing nervous system

Andrew E. Benesh, Jonathan T. Fleming, Chin Chiang, Bruce D. Carter, Matthew J. Tyska

Brain Res. Author manuscript; available in PMC 2013 Feb 27.

Published in final edited form as: Brain Res. 2012 Feb 27; 1440: 9–22. Published online 2012 Jan 8. doi: 10.1016/j.brainres.2011.12.054

PMCID:: PMC3278530

Abstract Article PDF–4.6M

Select item 596587214.

Alterations in the brain interactome of the intrinsically disordered N-terminal domain of the cellular prion protein (PrP^C) in Alzheimer’s disease

Sarah Ulbrich, Petra Janning, Ralf Seidel, Jakob Matschke, Anika Gonsberg, Sebastian Jung, Markus Glatzel, Martin Engelhard, Konstanze F. Winklhofer, Jörg Tatzelt

PLoS One. 2018; 13(5): e0197659. Published online 2018 May 23. doi: 10.1371/journal.pone.0197659

PMCID:: PMC5965872

Abstract Article PDF–2.4M

Select item 444121515.

Widespread Macromolecular Interaction Perturbations in Human Genetic Disorders

Nidhi Sahni, Song Yi, Mikko Taipale, Juan I. Fuxman Bass, Jasmin Coulombe-Huntington, Fan Yang, Jian Peng, Jochen Weile, Georgios I. Karras, Yang Wang, István A. Kovács, Atanas Kamburov, Irina Krykbaeva, Mandy H. Lam, George Tucker, Vikram Khurana, Amitabh Sharma, Yang-Yu Liu, Nozomu Yachie, Quan Zhong, Yun Shen, Alexandre Palagi, Adriana San-Miguel, Changyu Fan, Dawit Balcha, Amelie Dricot, Daniel M. Jordan, Jennifer M. Walsh, Akash A. Shah, Xinping Yang, Ani Stoyanova, Alex Leighton, Michael A. Calderwood, Yves Jacob, Michael E. Cusick, Kourosh Salehi-Ashtiani, Luke J. Whitesell, Shamil Sunyaev, Bonnie Berger, Albert-László Barabási, Benoit Charloteaux, David E. Hill, Tong Hao, Frederick P. Roth, Yu Xia, Albertha J.M. Walhout, Susan Lindquist, Marc Vidal

Cell. Author manuscript; available in PMC 2016 Apr 23.

Published in final edited form as: Cell. 2015 Apr 23; 161(3): 647–660. doi: 10.1016/j.cell.2015.04.013

PMCID:: PMC4441215

Abstract Article PDF–1.2M

Select item 934857616.

Chr21 protein–protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer’s disease

Julia Viard, Yann Loe-Mie, Rachel Daudin, Malik Khelfaoui, Christine Plancon, Anne Boland, Francisco Tejedor, Richard L Huganir, Eunjoon Kim, Makoto Kinoshita, Guofa Liu, Volker Haucke, Thomas Moncion, Eugene Yu, Valérie Hindie, Henri Bléhaut, Clotilde Mircher, Yann Herault, Jean-François Deleuze, Jean-Christophe Rain, Michel Simonneau, Aude-Marie Lepagnol-Bestel

Life Sci Alliance. 2022 Dec; 5(12): e202101205. Published online 2022 Aug 1. doi: 10.26508/lsa.202101205

PMCID:: PMC9348576

Abstract Article PDF–3.0M

Select item 426658817.

A proteome-scale map of the human interactome network

Thomas Rolland, Murat Taşan, Benoit Charloteaux, Samuel J. Pevzner, Quan Zhong, Nidhi Sahni, Song Yi, Irma Lemmens, Celia Fontanillo, Roberto Mosca, Atanas Kamburov, Susan D. Ghiassian, Xinping Yang, Lila Ghamsari, Dawit Balcha, Bridget E. Begg, Pascal Braun, Marc Brehme, Martin P. Broly, Anne-Ruxandra Carvunis, Dan Convery-Zupan, Roser Corominas, Jasmin Coulombe-Huntington, Elizabeth Dann, Matija Dreze, Amélie Dricot, Changyu Fan, Eric Franzosa, Fana Gebreab, Bryan J. Gutierrez, Madeleine F. Hardy, Mike Jin, Shuli Kang, Ruth Kiros, Guan Ning Lin, Katja Luck, Andrew MacWilliams, Jörg Menche, Ryan R. Murray, Alexandre Palagi, Matthew M. Poulin, Xavier Rambout, John Rasla, Patrick Reichert, Viviana Romero, Elien Ruyssinck, Julie M. Sahalie, Annemarie Scholz, Akash A. Shah, Amitabh Sharma, Yun Shen, Kerstin Spirohn, Stanley Tam, Alexander O. Tejeda, Shelly A. Wanamaker, Jean-Claude Twizere, Kerwin Vega, Jennifer Walsh, Michael E. Cusick, Yu Xia, Albert-László Barabási, Lilia M. Iakoucheva, Patrick Aloy, Javier De Las Rivas, Jan Tavernier, Michael A. Calderwood, David E. Hill, Tong Hao, Frederick P. Roth, Marc Vidal

Cell. Author manuscript; available in PMC 2015 Nov 20.

Published in final edited form as: Cell. 2014 Nov 20; 159(5): 1212–1226. doi: 10.1016/j.cell.2014.10.050

PMCID:: PMC4266588

Abstract Article PDF–3.1M

Select item 716998318.

A reference map of the human binary protein interactome

Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood

Nature. Author manuscript; available in PMC 2020 Oct 8.

Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x

PMCID:: PMC7169983

Abstract Article PDF–5.4M

Select item 553161119.

Architecture of the human interactome defines protein communities and disease networks

Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper

Nature. Author manuscript; available in PMC 2017 Nov 17.

Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366

PMCID:: PMC5531611

Abstract Article PDF–2.7M

Select item 52892820.

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

Abstract Article PDF–140K

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