PMC Links for Protein (Select 355477272) - PMC

Select item 46922041.

Bivalent Motif-Ear Interactions Mediate the Association of the Accessory Protein Tepsin with the AP-4 Adaptor Complex

Rafael Mattera, Carlos M. Guardia, Sachdev S. Sidhu, Juan S. Bonifacino

J Biol Chem. 2015 Dec 25; 290(52): 30736–30749. Published online 2015 Nov 5. doi: 10.1074/jbc.M115.683409

PMCID:: PMC4692204

Select item 46671292.

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

Abstract Article PDF–1.0M

Select item 31507303.

Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability

Andres Moreno-De-Luca, Sandra L Helmers, Hui Mao, Thomas G Burns, Amanda M A Melton, Karen R Schmidt, Paul M Fernhoff, David H Ledbetter, Christa L Martin

J Med Genet. Author manuscript; available in PMC 2012 Feb 1.

Published in final edited form as: J Med Genet. 2011 Feb; 48(2): 141–144. Published online 2010 Oct 23. doi: 10.1136/jmg.2010.082263

PMCID:: PMC3150730

Abstract Article PDF–321K

Select item 31132534.

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

Abstract Article PDF–882K

Select item 1257335.

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

Abstract Article PDF–618K

Select item 255156.

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

Abstract Article PDF–776K

Select item 35892707.

A Novel Homozygous p.R1105X Mutation of the AP4E1 Gene in Twins with Hereditary Spastic Paraplegia and Mycobacterial Disease

Xiao-Fei Kong, Aziz Bousfiha, Abdelfettah Rouissi, Yuval Itan, Avinash Abhyankar, Vanessa Bryant, Satoshi Okada, Fatima Ailal, Jacinta Bustamante, Jean-Laurent Casanova, Jennifer Hirst, Stéphanie Boisson-Dupuis

PLoS One. 2013; 8(3): e58286. Published online 2013 Mar 5. doi: 10.1371/journal.pone.0058286

PMCID:: PMC3589270

Abstract Article PDF–1.2M

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