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Select item 112036851.

Association between ZASP/LDB3 Pro26Ser and Inclusion Body Myopathy

Daniela Piga, Simona Zanotti, Michela Ripolone, Laura Napoli, Patrizia Ciscato, Sara Gibertini, Lorenzo Maggi, Francesco Fortunato, Andrea Rigamonti, Dario Ronchi, Giacomo Pietro Comi, Stefania Corti, Monica Sciacco

Int J Mol Sci. 2024 Jun; 25(12): 6547. Published online 2024 Jun 14. doi: 10.3390/ijms25126547

PMCID:: PMC11203685

Abstract Article PDF–2.6M

Select item 98230122.

Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy

Tamara T. Koopmann, Yalda Jamshidi, Mohammad Naghibi-Sistani, Heleen M. van der Klift, Hassan Birjandi, Zuhair Al-Hassnan, Abdullah Alwadai, Giovanni Zifarelli, Ehsan G. Karimiani, Sahar Sedighzadeh, Amir Bahreini, Nayereh Nouri, Merlene Peter, Kyoko Watanabe, Hermine A. van Duyvenvoorde, Claudia A. L. Ruivenkamp, Aalbertine K. K. Teunissen, Arend D. J. Ten Harkel, Sjoerd G. van Duinen, Monique C. Haak, Carlos E. Prada, Gijs W. E. Santen, Reza Maroofian

Eur J Hum Genet. 2023 Jan; 31(1): 97–104. Published online 2022 Oct 17. doi: 10.1038/s41431-022-01204-9

PMCID:: PMC9823012

Abstract Article PDF–2.2M

Select item 81650303.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 73578454.

Expression and Purification of ZASP Subdomains and Clinically Important Isoforms: High-Affinity Binding to G-Actin

Norman R. Watts, Xiaolei Zhuang, Joshua D. Kaufman, Ira W. Palmer, Altaira D. Dearborn, Stephen Coscia, Yotam Blech-Hermoni, Caterina Alfano, Annalisa Pastore, Ami Mankodi, Paul T. Wingfield

Biochemistry. Author manuscript; available in PMC 2020 Jul 13.

Published in final edited form as: Biochemistry. 2017 Apr 11; 56(14): 2061–2070. Published online 2017 Apr 3. doi: 10.1021/acs.biochem.7b00067

PMCID:: PMC7357845

Abstract Article PDF–2.0M

Select item 67003535.

Impact of LDB3 gene polymorphisms on clinical presentation and implantable cardioverter defibrillator (ICD) implantation in Chinese patients with idiopathic dilated cardiomyopathy

Dong-fei Wang, Jia-lan Lyu, Juan Fang, Jian Chen, Wan-wan Chen, Jia-qi Huang, Shu-dong Xia, Jian-mei Jin, Fang-hong Dong, Hong-qiang Cheng, Ying-ke Xu, Xiao-gang Guo

J Zhejiang Univ Sci B. 2019 Sep; 20(9): 766–775. doi: 10.1631/jzus.B1900017

PMCID:: PMC6700353

Abstract Article PDF–660K

Select item 64493886.

Alterations of protein expression of phospholamban, ZASP and plakoglobin in human atria in subgroups of seniors

Ulrich Gergs, Winnie Mangold, Frank Langguth, Mechthild Hatzfeld, Steffen Hauptmann, Hasan Bushnaq, Andreas Simm, Rolf-Edgar Silber, Joachim Neumann

Sci Rep. 2019; 9: 5610. Published online 2019 Apr 4. doi: 10.1038/s41598-019-42141-w

PMCID:: PMC6449388

Abstract Article PDF–1.8M

Select item 55316117.

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 50365278.

Panorama of ancient metazoan macromolecular complexes

Cuihong Wan, Blake Borgeson, Sadhna Phanse, Fan Tu, Kevin Drew, Greg Clark, Xuejian Xiong, Olga Kagan, Julian Kwan, Alexandr Berzginov, Kyle Chessman, Swati Pal, Graham Cromar, Ophelia Papoulas, Zuyao Ni, Daniel R. Boutz, Snejana Stoilova, Pierre C. Havugimana, Xinghua Guo, Ramy H. Malty, Mihail Sarov, Jack Greenblatt, Mohan Babu, Brent Derry, Elisabeth Tillier, John B. Wallingford, John Parkinson, Edward M. Marcotte, Andrew Emili

Nature. Author manuscript; available in PMC 2016 Sep 26.

Published in final edited form as: Nature. 2015 Sep 17; 525(7569): 339–344. Published online 2015 Sep 7. doi: 10.1038/nature14877

PMCID:: PMC5036527

Abstract Article PDF–4.7M

Select item 49300989.

D117N in Cypher/ZASP may not be a causative mutation for dilated cardiomyopathy and ventricular arrhythmias

Aviva Levitas, Yuval Konstantino, Emad Muhammad, Zaid Afawi, Jean Marc Weinstein, Guy Amit, Yoram Etzion, Ruti Parvari

Eur J Hum Genet. 2016 May; 24(5): 666–671. Published online 2015 Sep 30. doi: 10.1038/ejhg.2015.195

PMCID:: PMC4930098

Abstract Article PDF–513K

Select item 488219010.

Widespread expansion of protein interaction capabilities by alternative splicing

Xinping Yang, Jasmin Coulombe-Huntington, Shuli Kang, Gloria M. Sheynkman, Tong Hao, Aaron Richardson, Song Sun, Fan Yang, Yun A. Shen, Ryan R. Murray, Kerstin Spirohn, Bridget E. Begg, Miquel Duran-Frigola, Andrew MacWilliams, Samuel J. Pevzner, Quan Zhong, Shelly A. Wanamaker, Stanley Tam, Lila Ghamsari, Nidhi Sahni, Song Yi, Maria D. Rodriguez, Dawit Balcha, Guihong Tan, Michael Costanzo, Brenda Andrews, Charles Boone, Xianghong J. Zhou, Kourosh Salehi-Ashtiani, Benoit Charloteaux, Alyce A. Chen, Michael A. Calderwood, Patrick Aloy, Frederick P. Roth, David E. Hill, Lilia M. Iakoucheva, Yu Xia, Marc Vidal

Cell. Author manuscript; available in PMC 2017 Feb 11.

Published in final edited form as: Cell. 2016 Feb 11; 164(4): 805–817. doi: 10.1016/j.cell.2016.01.029

PMCID:: PMC4882190

Abstract Article PDF–1.9M

Select item 461721111.

The BioPlex Network: A Systematic Exploration of the Human Interactome

Edward L. Huttlin, Lily Ting, Raphael J. Bruckner, Fana Gebreab, Melanie P. Gygi, John Szpyt, Stanley Tam, Gabriela Zarraga, Greg Colby, Kurt Baltier, Rui Dong, Virginia Guarani, Laura Pontano Vaites, Alban Ordureau, Ramin Rad, Brian K. Erickson, Martin Wühr, Joel Chick, Bo Zhai, Deepak Kolippakkam, Julian Mintseris, Robert A. Obar, Tim Harris, Spyros Artavanis-Tsakonas, Mathew E. Sowa, Pietro DeCamilli, Joao A. Paulo, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2016 Jul 16.

Published in final edited form as: Cell. 2015 Jul 16; 162(2): 425–440. doi: 10.1016/j.cell.2015.06.043

PMCID:: PMC4617211

Abstract Article PDF–2.2M

Select item 433102512.

Loss-of-Function of hNa_v1.5 by ZASP1-D117N Associated with Intraventricular Conduction Disturbances in Left Ventricular Noncompaction

Yutao Xi, Tomohiko Ai, Enno De Lange, Zhaohui Li, Geru Wu, Luca Brunelli, W. Buck Kyle, Isik Turker, Jie Cheng, Michael J. Ackerman, Akinori Kimura, James N. Weiss, Zhilin Qu, Jeffrey J. Kim, Georgine Faulkner, Matteo Vatta

Circ Arrhythm Electrophysiol. Author manuscript; available in PMC 2015 Feb 17.

Published in final edited form as: Circ Arrhythm Electrophysiol. 2012 Oct; 5(5): 1017–1026. Published online 2012 Aug 28. doi: 10.1161/CIRCEP.111.969220

PMCID:: PMC4331025

Abstract Article PDF–760K

Select item 419932713.

Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2

Anna Vihola, Linda L. Bachinski, Mario Sirito, Shodimu-Emmanuel Olufemi, Shohrae Hajibashi, Keith A. Baggerly, Olayinka Raheem, Hannu Haapasalo, Tiina Suominen, Jeanette Holmlund-Hampf, Anders Paetau, Rosanna Cardani, Giovanni Meola, Hannu Kalimo, Lars Edström, Ralf Krahe, Bjarne Udd

Acta Neuropathol. Author manuscript; available in PMC 2014 Oct 16.

Published in final edited form as: Acta Neuropathol. 2010 Apr; 119(4): 465–479. Published online 2010 Jan 12. doi: 10.1007/s00401-010-0637-6

PMCID:: PMC4199327

Abstract Article PDF–977K

Select item 403636614.

Z-disc-associated, Alternatively Spliced, PDZ Motif-containing Protein (ZASP) Mutations in the Actin-binding Domain Cause Disruption of Skeletal Muscle Actin Filaments in Myofibrillar Myopathy

Xiaoyan Lin, Janelle Ruiz, Ilda Bajraktari, Rachel Ohman, Soojay Banerjee, Katherine Gribble, Joshua D. Kaufman, Paul T. Wingfield, Robert C. Griggs, Kenneth H. Fischbeck, Ami Mankodi

J Biol Chem. 2014 May 9; 289(19): 13615–13626. Published online 2014 Mar 25. doi: 10.1074/jbc.M114.550418

PMCID:: PMC4036366

Abstract Article PDF–5.2M

Select item 391256015.

Relationship between sex, shape, and substrate in hypertrophic cardiomyopathy

J. Martijn Bos, Jeanne L. Theis, A. Jamil Tajik, Bernard J. Gersh, Steve R. Ommen, Michael J. Ackerman

Am Heart J. Author manuscript; available in PMC 2014 Feb 4.

Published in final edited form as: Am Heart J. 2008 Jun; 155(6): 1128–1134. Published online 2008 Feb 21. doi: 10.1016/j.ahj.2008.01.005

PMCID:: PMC3912560

Abstract Article PDF–532K

Select item 379524116.

Cypher/ZASP Is a Novel A-kinase Anchoring Protein

Changsong Lin, Xiaogang Guo, Stephan Lange, Jie Liu, Kunfu Ouyang, Xiang Yin, Liujun Jiang, Yibo Cai, Yongxin Mu, Farah Sheikh, Sheng Ye, Ju Chen, Yuehai Ke, Hongqiang Cheng

J Biol Chem. 2013 Oct 11; 288(41): 29403–29413. Published online 2013 Aug 31. doi: 10.1074/jbc.M113.470708

PMCID:: PMC3795241

Abstract Article PDF–3.4M

Select item 357609317.

Z-band Alternatively Spliced PDZ Motif Protein (ZASP) Is the Major O-Linked β-N-Acetylglucosamine-substituted Protein in Human Heart Myofibrils

Man-Ching Leung, Paul G. Hitchen, Douglas G. Ward, Andrew E. Messer, Steven B. Marston

J Biol Chem. 2013 Feb 15; 288(7): 4891–4898. Published online 2012 Dec 27. doi: 10.1074/jbc.M112.410316

PMCID:: PMC3576093

Abstract Article PDF–2.2M

Select item 320657018.

Zasp: A New Z-Band Alternatively Spliced PDZ-Motif Protein

Georgine Faulkner, Alberto Pallavicini, Elide Formentin, Anna Comelli, Chiara Ievolella, Silvia Trevisan, Gladis Bortoletto, Paolo Scannapieco, Michela Salamon, Vincent Mouly, Giorgio Valle, Gerolamo Lanfranchi

J Cell Biol. 1999 Jul 26; 146(2): 465–476. doi: 10.1083/jcb.146.2.465

PMCID:: PMC3206570

Abstract Article PDF–629K

Select item 317805919.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 301874620.

A novel custom resequencing array for dilated cardiomyopathy

Rebekah S. Zimmerman, Stephanie Cox, Neal K. Lakdawala, Allison Cirino, Debora Mancini-DiNardo, Eugene Clark, Annette Leon, Elizabeth Duffy, Emily White, Samantha Baxter, Manal Alaamery, Lisa Farwell, Scott Weiss, Christine E. Seidman, Jonathan G. Seidman, Carolyn Y. Ho, Heidi L. Rehm, Birgit H. Funke

Genet Med. Author manuscript; available in PMC 2011 Jan 11.

Published in final edited form as: Genet Med. 2010 May; 12(5): 268–278. doi: 10.1097/GIM.0b013e3181d6f7c0

PMCID:: PMC3018746

Abstract Article PDF–100K

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