Revising pathogenesis of AP1S1-related MEDNIK syndrome: a missense variant in the AP1S1 gene as a causal genetic lesion.

Authors: Rackova, Marketa¹ (AUTHOR), Mattera, Rafael² (AUTHOR), Svaton, Michael¹ (AUTHOR), Fencl, Filip³ (AUTHOR), Kanderova, Veronika¹ (AUTHOR), Spicakova, Karolina³ (AUTHOR), Park, Sang Yoon² (AUTHOR), Fabian, Ondrej⁴ (AUTHOR), Koblizek, Miroslav⁴ (AUTHOR), Fronkova, Eva¹ (AUTHOR), Bonifacino, Juan S.² (AUTHOR) juan.bonifacino@nih.gov, Skvarova Kramarzova, Karolina¹ (AUTHOR) karolina.skvarova@lfmotol.cuni.cz

Source: Journal of Molecular Medicine. Nov2024, Vol. 102 Issue 11, p1343-1353. 11p.

Subject Terms: *MISSENSE mutation, *GENETIC variation, *ADAPTOR proteins, *MENTAL illness, *INTELLECTUAL disabilities

Neuronal functions of adaptor complexes involved in protein sorting

Authors: Guardia, Carlos M, De Pace, Raffaella, Mattera, Rafael, Bonifacino, Juan S

Source: In Current Opinion in Neurobiology August 2018 51:103-110

Structural Mechanism for Ubiquitinated-Cargo Recognition by the Golgi-Localized, γ-Ear-Containing, ADP-Ribosylation-Factor-Binding Proteins

Authors: Prag, Gali, Lee, Sangho, Mattera, Rafael, Arighi, Cecilia N., Beach, Bridgette M., Bonifacino, Juan S., Hurley, James H., Davies, David R.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2005 Feb . 102(7), 2334-2339.

Access URL: https://www.jstor.org/stable/3374615

AP-4 mediates export of ATG9A from the trans-Golgi network to promote autophagosome formation

Authors: Mattera, Rafael, Park, Sang Yoon, De Pace, Raffaella, Guardia, Carlos M., Bonifacino, Juan S.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2017 Dec 01. 114(50), E10697-E10706.

Access URL: https://www.jstor.org/stable/26485822

Restricted Location of PSEN2/γ-Secretase Determines Substrate Specificity and Generates an Intracellular Aβ Pool

Authors: Sannerud, Ragna, Esselens, Cary, Ejsmont, Paulina, Mattera, Rafael, Rochin, Leila, Tharkeshwar, Arun Kumar, De Baets, Greet, De Wever, Veerle, Habets, Roger, Baert, Veerle, Vermeire, Wendy, Michiels, Christine, Groot, Arjan J., Wouters, Rosanne, Dillen, Katleen, Vints, Katlijn, Baatsen, Pieter, Munck, Sebastian, Derua, Rita, Waelkens, Etienne, Basi, Guriqbal S., Mercken, Mark, Vooijs, Marc, Bollen, Mathieu, Schymkowitz, Joost, Rousseau, Frederic, Bonifacino, Juan S., Van Niel, Guillaume, De Strooper, Bart, Annaert, Wim

Source: In Cell 30 June 2016 166(1):193-208

Rab5 and its effector FHF contribute to neuronal polarity through dynein-dependent retrieval of somatodendritic proteins from the axon

Authors: Guo, Xiaoli, Farías, Ginny G., Mattera, Rafael, Bonifacino, Juan S.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2016 Sep 01. 113(36), E5318-E5327.

Access URL: https://www.jstor.org/stable/26471597

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

Alternate Title: Peptide Motifs that Mediate Interaction of Tepsin with AP-4 (English)

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

Source: In Journal of Biological Chemistry 25 December 2015 290(52):30736-30749

Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering

Authors: Raza, M. Hashim, Mattera, Rafael, Morell, Robert, Sainz, Eduardo, Rahn, Rachel, Gutierrez, Joanne, Paris, Emily, Root, Jessica, Solomon, Beth, Brewer, Carmen, Basra, M. Asim Raza, Khan, Shaheen, Riazuddin, Sheikh, Braun, Allen, Bonifacino, Juan S., Drayna, Dennis

Source: In The American Journal of Human Genetics 5 November 2015 97(5):715-725

The Adaptor Protein-1 μ1B Subunit Expands the Repertoire of Basolateral Sorting Signal Recognition in Epithelial Cells

Authors: Guo, Xiaoli, Mattera, Rafael, Ren, Xuefeng, Chen, Yu, Retamal, Claudio, González, Alfonso, Bonifacino, Juan S.

Source: In Developmental Cell 11 November 2013 27(3):353-366

Signal-Mediated, AP-1/Clathrin-Dependent Sorting of Transmembrane Receptors to the Somatodendritic Domain of Hippocampal Neurons

Authors: Farías, Ginny G., Cuitino, Loreto, Guo, Xiaoli, Ren, Xuefeng, Jarnik, Michal, Mattera, Rafael, Bonifacino, Juan S.

Source: In Neuron 6 September 2012 75(5):810-823

Basolateral sorting of the coxsackie and adenovirus receptor through interaction of a canonical YXXФ motif with the clathrin adaptors AP-1A and AP-1B

Authors: Carvajal-Gonzalez, Jose Maria, Gravotta, Diego, Mattera, Rafael, Diaz, Fernando, Bay, Andres Perez, Roman, Angel C., Schreiner, Ryan P., Thuenauer, Roland, Bonifacino, Juan S., Rodriguez-Boulan, Enrique

Source: Proceedings of the National Academy of Sciences of the United States of America, 2012 Mar 01. 109(10), 3820-3825.

Access URL: https://www.jstor.org/stable/41507043

The Clathrin Adaptor AP-1A Mediates Basolateral Polarity

Authors: Gravotta, Diego, Carvajal-Gonzalez, Jose Maria, Mattera, Rafael, Deborde, Sylvie, Banfelder, Jason R., Bonifacino, Juan S., Rodriguez-Boulan, Enrique

Source: In Developmental Cell 17 April 2012 22(4):811-823

Conservation and Diversification of Dileucine Signal Recognition by Adaptor Protein (AP) Complex Variants

Authors: Mattera, Rafael, Boehm, Markus, Chaudhuri, Rittik, Prabhu, Yogikala, Bonifacino, Juan S.

Source: In Journal of Biological Chemistry 21 January 2011 286(3):2022-2030

Splice Variants of the α Subunit of the G Protein G$_{\text{s}}$ Activate Both Adenylyl Cyclase and Calcium Channels

Authors: Mattera, Rafael, Graziano, Michael P., Yatani, Atsuko, Zhou, Zhimin, Graf, Rolf, Codina, Juan, Birnbaumer, Lutz, Gilman, Alfred G., Brown, Arthur M.

Source: Science, 1989 Feb 01. 243(4892), 804-807.

Access URL: https://www.jstor.org/stable/1703059

The Rab5 Guanine Nucleotide Exchange Factor Rabex-5 Binds Ubiquitin (Ub) and Functions as a Ub Ligase through an Atypical Ub-interacting Motif and a Zinc Finger Domain

Authors: Mattera, Rafael ^‡, Tsai, Yien Che ^§, Weissman, Allan M. ^§, Bonifacino, Juan S. ^{‡, 1}

Source: In Journal of Biological Chemistry 10 March 2006 281(10):6874-6883

The Trihelical Bundle Subdomain of the GGA Proteins Interacts with Multiple Partners through Overlapping but Distinct Sites

Authors: Mattera, Rafael, Puertollano, Rosa, Smith, William J., Bonifacino, Juan S. ^‡

Source: In Journal of Biological Chemistry 23 July 2004 279(30):31409-31418

Definition of the Consensus Motif Recognized by γ-Adaptin Ear Domains

Authors: Mattera, Rafael ^‡, Ritter, Brigitte ^{§, ¶}, Sidhu, Sachdev S. ^∥, McPherson, Peter S. ^{∥, **}, Bonifacino, Juan S. ^{‡, ‡‡}

Source: In Journal of Biological Chemistry 27 February 2004 279(9):8018-8028

Altered distribution of ATG9A and accumulation of axonal aggregates in neurons from a mouse model of AP-4 deficiency syndrome.

Authors: De Pace, Raffaella¹, Skirzewski, Miguel², Damme, Markus³, Mattera, Rafael¹, Mercurio, Jeffrey¹, Foster, Arianne M.¹, Cuitino, Loreto¹, Jarnik, Michal¹, Hoffmann, Victoria⁴, Morris, H. Douglas⁵, Han, Tae-Un⁶, Mancini, Grazia M. S.⁷, Buonanno, Andrés², Bonifacino, Juan S.¹, juan.bonifacino@nih.gov

Source: PLoS Genetics; 4/26/2018, Vol. 14 Issue 4, p1-30, 30p

Co-assembly of Viral Envelope Glycoproteins Regulates Their Polarized Sorting in Neurons.

Authors: Mattera, Rafael¹, Farías, Ginny G.¹, Mardones, Gonzalo A.¹, Bonifacino, Juan S.¹ juan@helix.nih.gov

Source: PLoS Pathogens. May2014, Vol. 10 Issue 5, p1-18. 18p.

Subject Terms: *MOLECULAR structure of glycoproteins, *NIPAH virus, *MOLECULAR structure of viral envelope proteins, *NEURONS, *VIRAL physiology

The role of AP-4 in cargo export from the trans- Golgi network and hereditary spastic paraplegia.

Authors: Mattera, Rafael¹, De Pace, Raffaella¹, Bonifacino, Juan S.¹ juan.bonifacino@nih.gov

Source: Biochemical Society Transactions. Oct2020, Vol. 48 Issue 5, p1877-1888. 12p.

Subject Terms: *AMYLOID beta-protein precursor, *FAMILIAL spastic paraplegia, *MEMBRANE proteins, *INTRACELLULAR membranes, *PROTEIN transport