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Items: 1 to 20 of 37

1.
Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families
Aurélie Becker, Charlotte Felici, Laëtitia Lambert, Anne de Saint Martin, Marie‐Thérèse Abi‐Warde, Elise Schaefer, Christian Zix, Mina Zamani, Saeid Sadeghian, Jawaher Zeighami, Tahereh Seifi, Reza Azizimalamiri, Gholamreza Shariati, Hamid Galehdari, Mareike Selig, Can Ding, Sarah Duerinckx, Isabelle Pirson, Marc Abramowicz, Guillemette Clément, Bruno Leheup, Philippe Jonveaux, Geneviève Lefort, Myriam Bronner, Mathilde Renaud, Céline Bonnet
Clin Genet. 2023 Mar; 103(3): 346–351. Published online 2022 Dec 2. doi: 10.1111/cge.14264
PMCID:
PMC10108251
AbstractArticlePDF–964K
2.
A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency
Muhammad Jameel, Joakim Klar, Muhammad Tariq, Abubakar Moawia, Naveed Altaf Malik, Syeda Seema Waseem, Uzma Abdullah, Tahir Naeem Khan, Raili Raininko, Shahid Mahmood Baig, Niklas Dahl
BMC Med Genet. 2014; 15: 133. Published online 2014 Dec 14. doi: 10.1186/s12881-014-0133-2
PMCID:
PMC4292821
AbstractArticlePDF–713K
3.
Mutation in the AP4M1 Gene Provides a Model for Neuroaxonal Injury in Cerebral Palsy
Annemieke J.M.H. Verkerk, Rachel Schot, Belinda Dumee, Karlijn Schellekens, Sigrid Swagemakers, Aida M. Bertoli-Avella, Maarten H. Lequin, Jeroen Dudink, Paul Govaert, A.L. van Zwol, Jennifer Hirst, Marja W. Wessels, Coriene Catsman-Berrevoets, Frans W. Verheijen, Esther de Graaff, Irenaeus F.M. de Coo, Johan M. Kros, Rob Willemsen, Patrick J. Willems, Peter J. van der Spek, Grazia M.S. Mancini
Am J Hum Genet. 2009 Jul 10; 85(1): 40–52. doi: 10.1016/j.ajhg.2009.06.004
PMCID:
PMC2706965
AbstractArticlePDF–1.2M
4.
Locus and Allelic Heterogeneity in Five Families with Hereditary Spastic Paraplegia
Malavika Hebbar, Anju Shukla, Sheela Nampoothiri, Stephanie Bielas, Katta M Girisha
J Hum Genet. Author manuscript; available in PMC 2019 Apr 18.
Published in final edited form as: J Hum Genet. 2019 Jan; 64(1): 17–21. Published online 2018 Oct 18. doi: 10.1038/s10038-018-0523-y
PMCID:
PMC6344291
AbstractArticlePDF–58K
5.
Interactions between the Hepatitis C Virus Nonstructural 2 Protein and Host Adaptor Proteins 1 and 4 Orchestrate Virus Release
Fei Xiao, Stanley Wang, Rina Barouch-Bentov, Gregory Neveu, Szuyuan Pu, Melanie Beer, Stanford Schor, Sathish Kumar, Vlad Nicolaescu, Brett D. Lindenbach, Glenn Randall, Shirit Einav
mBio. 2018 Mar-Apr; 9(2): e02233-17. Published online 2018 Mar 13. doi: 10.1128/mBio.02233-17
PMCID:
PMC5850324
AbstractArticlePDF–3.6M
6.
AP-4 mediates export of ATG9A from the trans-Golgi network to promote autophagosome formation
Rafael Mattera, Sang Yoon Park, Raffaella De Pace, Carlos M. Guardia, Juan S. Bonifacino
Proc Natl Acad Sci U S A. 2017 Dec 12; 114(50): E10697–E10706. Published online 2017 Nov 27. doi: 10.1073/pnas.1717327114
PMCID:
PMC5740629
AbstractArticlePDF–3.3M
7.
Sorting of the Alzheimer’s Disease Amyloid Precursor Protein Mediated by the AP-4 Complex
Patricia V. Burgos, Gonzalo A. Mardones, Adriana L. Rojas, Luis L. P. daSilva, Yogikala Prabhu, James H. Hurley, Juan S. Bonifacino
Dev Cell. Author manuscript; available in PMC 2011 Mar 16.
Published in final edited form as: Dev Cell. 2010 Mar 16; 18(3): 425–436. doi: 10.1016/j.devcel.2010.01.015
PMCID:
PMC2841041
AbstractArticlePDF–5.5M
8.
Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering
M. Hashim Raza, Rafael Mattera, Robert Morell, Eduardo Sainz, Rachel Rahn, Joanne Gutierrez, Emily Paris, Jessica Root, Beth Solomon, Carmen Brewer, M. Asim Raza Basra, Shaheen Khan, Sheikh Riazuddin, Allen Braun, Juan S. Bonifacino, Dennis Drayna
Am J Hum Genet. 2015 Nov 5; 97(5): 715–725. Published online 2015 Nov 5. doi: 10.1016/j.ajhg.2015.10.007
PMCID:
PMC4667129
AbstractArticlePDF–1.0M
9.
Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature
Rami Abou Jamra, Orianne Philippe, Annick Raas-Rothschild, Sebastian H. Eck, Elisabeth Graf, Rebecca Buchert, Guntram Borck, Arif Ekici, Felix F. Brockschmidt, Markus M. Nöthen, Arnold Munnich, Tim M. Strom, Andre Reis, Laurence Colleaux
Am J Hum Genet. 2011 Jun 10; 88(6): 788–795. doi: 10.1016/j.ajhg.2011.04.019
PMCID:
PMC3113253
AbstractArticlePDF–882K
10.
Specificity of interaction between adaptor-complex medium chains and the tyrosine-based sorting motifs of TGN38 and lgp120.
D J Stephens, G Banting
Biochem J. 1998 Nov 1; 335(Pt 3): 567–572. doi: 10.1042/bj3350567
PMCID:
PMC1219817
SummaryPDF–318K
11.
Functional and physical interactions of the adaptor protein complex AP-4 with ADP-ribosylation factors (ARFs)
Markus Boehm, Rubén C. Aguilar, Juan S. Bonifacino
EMBO J. 2001 Nov 15; 20(22): 6265–6276. doi: 10.1093/emboj/20.22.6265
PMCID:
PMC125733
AbstractArticlePDF–618K
12.
Subunit-Specific Regulation of NMDA Receptor Endocytosis
Gabriela Lavezzari, Jennifer McCallum, Colleen M. Dewey, Katherine W. Roche
J Neurosci. 2004 Jul 14; 24(28): 6383–6391. doi: 10.1523/JNEUROSCI.1890-04.2004
PMCID:
PMC6729547
AbstractArticlePDF–668K
13.
Characterization of a Fourth Adaptor-related Protein Complex
Jennifer Hirst, Nicholas A. Bright, Brian Rous, Margaret S. Robinson
Mol Biol Cell. 1999 Aug; 10(8): 2787–2802. doi: 10.1091/mbc.10.8.2787
PMCID:
PMC25515
AbstractArticlePDF–776K
14.
The FTS-Hook-FHIP (FHF) complex interacts with AP-4 to mediate perinuclear distribution of AP-4 and its cargo ATG9A
Rafael Mattera, Chad D. Williamson, Xuefeng Ren, Juan S. Bonifacino
Mol Biol Cell. 2020 Apr 15; 31(9): 963–979. doi: 10.1091/mbc.E19-11-0658
PMCID:
PMC7185972
AbstractArticlePDF–3.9M
15.
Cytoplasmic dynein-1 cargo diversity is mediated by the combinatorial assembly of FTS–Hook–FHIP complexes
Jenna R Christensen, Agnieszka A Kendrick, Joey B Truong, Adriana Aguilar-Maldonado, Vinit Adani, Monika Dzieciatkowska, Samara L Reck-Peterson
eLife. 2021; 10: e74538. Published online 2021 Dec 9. doi: 10.7554/eLife.74538
PMCID:
PMC8730729
AbstractArticlePDF–14M
16.
A genome-wide CRISPR screen identifies genes critical for resistance to FLT3 inhibitor AC220
Panpan Hou, Chao Wu, Yuchen Wang, Rui Qi, Dheeraj Bhavanasi, Zhixiang Zuo, Cedric Dos Santos, Shuliang Chen, Yu Chen, Hong Zheng, Hong Wang, Alexander Perl, Deyin Guo, Jian Huang
Cancer Res. Author manuscript; available in PMC 2018 Aug 15.
Published in final edited form as: Cancer Res. 2017 Aug 15; 77(16): 4402–4413. Published online 2017 Jun 16. doi: 10.1158/0008-5472.CAN-16-1627
PMCID:
PMC5559306
AbstractArticlePDF–885K
17.
Myotubularin-related Proteins 3 and 4 Interact with Polo-like Kinase 1 and Centrosomal Protein of 55 kDa to Ensure Proper Abscission
Nicole St-Denis, Gagan D. Gupta, Zhen Yuan Lin, Beatriz Gonzalez-Badillo, Laurence Pelletier, Anne-Claude Gingras
Mol Cell Proteomics. 2015 Apr; 14(4): 946–960. Published online 2015 Feb 6. doi: 10.1074/mcp.M114.046086
PMCID:
PMC4390272
AbstractArticlePDF–814K
18.
BioID reveals an ATG9A interaction with ATG13‐ATG101 in the degradation of p62/SQSTM1‐ubiquitin clusters
Ashari R Kannangara, Daniel M Poole, Colten M McEwan, Joshua C Youngs, Vajira K Weerasekara, Alex M Thornock, Misael T Lazaro, Eranga R Balasooriya, Laura M Oh, Erik J Soderblom, Jonathan J Lee, Daniel L Simmons, Joshua L Andersen
EMBO Rep. 2021 Oct 5; 22(10): e51136. Published online 2021 Aug 9. doi: 10.15252/embr.202051136
PMCID:
PMC8490997
AbstractArticlePDF–4.5M
19.
The RNA binding protein MEX3A promotes tumor progression of breast cancer by post-transcriptional regulation of IGFBP4
Wenhu Chen, Liqiang Hu, Xuemei Lu, Xiaofei Wang, Changan Zhao, Chen Guo, Xiaoyan Li, Yuqin Ding, Hongguang Zhao, Dongdong Tong, Lifang Wang, Chen Huang
Breast Cancer Res Treat. 2023; 201(3): 353–366. Published online 2023 Jul 11. doi: 10.1007/s10549-023-07028-5
PMCID:
PMC10460732
AbstractArticlePDF–5.6M
20.
Human Chromosome 7: DNA Sequence and Biology
Stephen W. Scherer, Joseph Cheung, Jeffrey R. MacDonald, Lucy R. Osborne, Kazuhiko Nakabayashi, Jo-Anne Herbrick, Andrew R. Carson, Layla Parker-Katiraee, Jennifer Skaug, Razi Khaja, Junjun Zhang, Alexander K. Hudek, Martin Li, May Haddad, Gavin E. Duggan, Bridget A. Fernandez, Emiko Kanematsu, Simone Gentles, Constantine C. Christopoulos, Sanaa Choufani, Dorota Kwasnicka, Xiangqun H. Zheng, Zhongwu Lai, Deborah Nusskern, Qing Zhang, Zhiping Gu, Fu Lu, Susan Zeesman, Malgorzata J. Nowaczyk, Ikuko Teshima, David Chitayat, Cheryl Shuman, Rosanna Weksberg, Elaine H. Zackai, Theresa A. Grebe, Sarah R. Cox, Susan J. Kirkpatrick, Nazneen Rahman, Jan M. Friedman, Henry H. Q. Heng, Pier Giuseppe Pelicci, Francesco Lo-Coco, Elena Belloni, Lisa G. Shaffer, Barbara Pober, Cynthia C. Morton, James F. Gusella, Gail A. P. Bruns, Bruce R. Korf, Bradley J. Quade, Azra H. Ligon, Heather Ferguson, Anne W. Higgins, Natalia T. Leach, Steven R. Herrick, Emmanuelle Lemyre, Chantal G. Farra, Hyung-Goo Kim, Anne M. Summers, Karen W. Gripp, Wendy Roberts, Peter Szatmari, Elizabeth J. T. Winsor, Karl-Heinz Grzeschik, Ahmed Teebi, Berge A. Minassian, Juha Kere, Lluis Armengol, Miguel Angel Pujana, Xavier Estivill, Michael D. Wilson, Ben F. Koop, Sabrina Tosi, Gudrun E. Moore, Andrew P. Boright, Eitan Zlotorynski, Batsheva Kerem, Peter M. Kroisel, Erwin Petek, David G. Oscier, Sarah J. Mould, Hartmut Döhner, Konstanze Döhner, Johanna M. Rommens, John B. Vincent, J. Craig Venter, Peter W. Li, Richard J. Mural, Mark D. Adams, Lap-Chee Tsui
Science. Author manuscript; available in PMC 2010 Jun 9.
Published in final edited form as: Science. 2003 May 2; 300(5620): 767–772. Published online 2003 Apr 10. doi: 10.1126/science.1083423
PMCID:
PMC2882961
AbstractArticlePDF–1.2M

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