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Select item 76115011.

Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome

Sandra Ammann, Ansgar Schulz, Ingeborg Krägeloh-Mann, Nele M.G. Dieckmann, Klaus Niethammer, Sebastian Fuchs, Katja Martina Eckl, Roswitha Plank, Roland Werner, Janine Altmüller, Holger Thiele, Peter Nürnberg, Julia Bank, Anne Strauß, Horst von Bernuth, Udo zur Stadt, Samantha Grieve, Gillian M. Griffiths, Kai Lehmberg, Hans Christian Hennies, Stephan Ehl

Blood. Author manuscript; available in PMC 2021 Aug 16.

Published in final edited form as: Blood. 2016 Feb 25; 127(8): 997–1006. Published online 2016 Jan 7. doi: 10.1182/blood-2015-09-671636

PMCID:: PMC7611501

Abstract Article PDF–1.5M

Select item 55557512.

A new type of syndromic albinism associated with mutations in AP3D1

Lluis Montoliu, Michael S. Marks

Pigment Cell Melanoma Res. Author manuscript; available in PMC 2018 Jan 1.

Published in final edited form as: Pigment Cell Melanoma Res. 2017 Jan; 30(1): 5–7. Published online 2016 Nov 30. doi: 10.1111/pcmr.12543

PMCID:: PMC5555751

Article PDF–288K

Select item 104499603.

A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation

Alexandra Frohne, Martin Koenighofer, Hakan Cetin, Michael Nieratschker, David T. Liu, Franco Laccone, Juergen Neesen, Stefan F. Nemec, Ursula Schwarz-Nemec, Christian Schoefer, Karen B. Avraham, Klemens Frei, Katharina Grabmeier-Pfistershammer, Bernhard Kratzer, Klaus Schmetterer, Winfried F. Pickl, Thomas Parzefall

Hum Genet. 2023; 142(8): 1077–1089. Published online 2022 Nov 29. doi: 10.1007/s00439-022-02506-0

PMCID:: PMC10449960

Abstract Article PDF–4.6M

Select item 34692514.

The HIV-1 Matrix protein does not interact directly with the protein interactive domain of AP-3 Delta

Sampson K. Kyere, Peter Y. Mercredi, Xinhong Dong, Paul Spearman, Michael F. Summers

Virus Res. Author manuscript; available in PMC 2013 May 1.

Published in final edited form as: Virus Res. 2012 Nov; 169(2): 411–414. Published online 2012 Jun 15. doi: 10.1016/j.virusres.2012.06.007

PMCID:: PMC3469251

Abstract Article PDF–1.4M

Select item 86418465.

Connecting COPD GWAS Genes: FAM13A Controls TGFβ2 Secretion by Modulating AP-3 Transport

Lu Gong, Samuel Bates, Jian Li, Dandi Qiao, Kimberly Glass, Wenyi Wei, Victor W. Hsu, Xiaobo Zhou, Edwin K. Silverman

Am J Respir Cell Mol Biol. 2021 Nov; 65(5): 532–543. Published online 2021 Mar 30. doi: 10.1165/rcmb.2021-0016OC

PMCID:: PMC8641846

Abstract Article PDF–1.9M

Select item 86204296.

RNF13 Dileucine Motif Variants L311S and L312P Interfere with Endosomal Localization and AP-3 Complex Association

Valérie C. Cabana, Antoine Y. Bouchard, Audrey M. Sénécal, Kim Ghilarducci, Saïd Kourrich, Laurent Cappadocia, Marc P. Lussier

Cells. 2021 Nov; 10(11): 3063. Published online 2021 Nov 6. doi: 10.3390/cells10113063

PMCID:: PMC8620429

Abstract Article PDF–7.2M

Select item 11704797.

A di-leucine-based motif in the cytoplasmic tail of LIMP-II and tyrosinase mediates selective binding of AP-3.

S Höning, I V Sandoval, K von Figura

EMBO J. 1998 Mar 2; 17(5): 1304–1314. doi: 10.1093/emboj/17.5.1304

PMCID:: PMC1170479

Summary PDF–485K

Select item 80771668.

A BLOC-1–AP-3 super-complex sorts a cis-SNARE complex into endosome-derived tubular transport carriers

Shanna L. Bowman, Linh Le, Yueyao Zhu, Dawn C. Harper, Anand Sitaram, Alexander C. Theos, Elena V. Sviderskaya, Dorothy C. Bennett, Graça Raposo-Benedetti, David J. Owen, Megan K. Dennis, Michael S. Marks

J Cell Biol. 2021 Jul 5; 220(7): e202005173. Published online 2021 Apr 22. doi: 10.1083/jcb.202005173

PMCID:: PMC8077166

Abstract Article PDF–8.4M

Select item 34424099.

AP-3 regulates PAR1 ubiquitin-independent MVB/lysosomal sorting via an ALIX-mediated pathway

Michael R. Dores, May M. Paing, Huilan Lin, William A. Montagne, Adriano Marchese, JoAnn Trejo

Mol Biol Cell. 2012 Sep 15; 23(18): 3612–3623. doi: 10.1091/mbc.E12-03-0251

PMCID:: PMC3442409

Abstract Article PDF–2.8M

Select item 117007710.

Altered expression of a novel adaptin leads to defective pigment granule biogenesis in the Drosophila eye color mutant garnet.

C E Ooi, J E Moreira, E C Dell'Angelica, G Poy, D A Wassarman, J S Bonifacino

EMBO J. 1997 Aug 1; 16(15): 4508–4518. doi: 10.1093/emboj/16.15.4508

PMCID:: PMC1170077

Summary PDF–1.0M

Select item 264896411.

Molecular Basis for the Sorting of the SNARE VAMP7 into Endocytic Clathrin-Coated Vesicles by the ArfGAP Hrb

Paul R. Pryor, Lauren Jackson, Sally R. Gray, Melissa A. Edeling, Amanda Thompson, Christopher M. Sanderson, Philip R. Evans, David J. Owen, J. Paul Luzio

Cell. 2008 Sep 5; 134(5): 817–827. doi: 10.1016/j.cell.2008.07.023

PMCID:: PMC2648964

Abstract Article

Select item 32924912.

The Zinc Transporter ZnT3 Interacts with AP-3 and It Is Preferentially Targeted to a Distinct Synaptic Vesicle Subpopulation

Gloria Salazar, Rachal Love, Erica Werner, Michele M. Doucette, Su Cheng, Allan Levey, Victor Faundez

Mol Biol Cell. 2004 Feb; 15(2): 575–587. doi: 10.1091/mbc.E03-06-0401

PMCID:: PMC329249

Abstract Article PDF–963K

Select item 435104513.

How HIV-1 Gag assembles in cells: putting together pieces of the puzzle

Jaisri R Lingappa, Jonathan C Reed, Motoko Tanaka, Kasana Chutiraka, Bridget A Robinson

Virus Res. Author manuscript; available in PMC 2015 Nov 26.

Published in final edited form as: Virus Res. 2014 Nov 26; 193: 89–107. Published online 2014 Jul 24. doi: 10.1016/j.virusres.2014.07.001

PMCID:: PMC4351045

Abstract Article PDF–2.3M

Select item 432670614.

A genome-wide association study identifies PLCL2 and AP3D1-DOT1L-SF3A2 as new susceptibility loci for myocardial infarction in Japanese

Megumi Hirokawa, Hiroyuki Morita, Tomoyuki Tajima, Atsushi Takahashi, Kyota Ashikawa, Fuyuki Miya, Daichi Shigemizu, Kouichi Ozaki, Yasuhiko Sakata, Daisaku Nakatani, Shinichiro Suna, Yasushi Imai, Toshihiro Tanaka, Tatsuhiko Tsunoda, Koichi Matsuda, Takashi Kadowaki, Yusuke Nakamura, Ryozo Nagai, Issei Komuro, Michiaki Kubo

Eur J Hum Genet. 2015 Mar; 23(3): 374–380. Published online 2014 Jun 11. doi: 10.1038/ejhg.2014.110

PMCID:: PMC4326706

Abstract Article PDF–1.2M

Select item 12524215.

PACS-1 binding to adaptors is required for acidic cluster motif-mediated protein traffic

Colin M. Crump, Yang Xiang, Laurel Thomas, Feng Gu, Carol Austin, Sharon A. Tooze, Gary Thomas

EMBO J. 2001 May 1; 20(9): 2191–2201. doi: 10.1093/emboj/20.9.2191

PMCID:: PMC125242

Abstract Article PDF–454K

Select item 345718016.

Defective HIV-1 Particle Assembly in AP-3-Deficient Cells Derived from Patients with Hermansky-Pudlak Syndrome Type 2

Ling Liu, Jessica Sutton, Elvin Woodruff, Fernando Villalta, Paul Spearman, Xinhong Dong

J Virol. 2012 Oct; 86(20): 11242–11253. doi: 10.1128/JVI.00544-12

PMCID:: PMC3457180

Abstract Article PDF–2.9M

Select item 328121217.

Role of the HIV-1 Matrix Protein in Gag Intracellular Trafficking and Targeting to the Plasma Membrane for Virus Assembly

Ruba H. Ghanam, Alexandra B. Samal, Timothy F. Fernandez, Jamil S. Saad

Front Microbiol. 2012; 3: 55. Prepublished online 2012 Jan 9. Published online 2012 Feb 17. doi: 10.3389/fmicb.2012.00055

PMCID:: PMC3281212

Abstract Article PDF–1.1M

Select item 348321918.

AP-3 and Rabip4’ Coordinately Regulate Spatial Distribution of Lysosomes

Viorica Ivan, Emma Martinez-Sanchez, Livia E. Sima, Viola Oorschot, Judith Klumperman, Stefana M. Petrescu, Peter van der Sluijs

PLoS One. 2012; 7(10): e48142. Published online 2012 Oct 29. doi: 10.1371/journal.pone.0048142

PMCID:: PMC3483219

Abstract Article PDF–6.8M

Select item 126643219.

Functions of Adaptor Protein (AP)-3 and AP-1 in Tyrosinase Sorting from Endosomes to Melanosomes

Alexander C. Theos, Danièle Tenza, José A. Martina, Ilse Hurbain, Andrew A. Peden, Elena V. Sviderskaya, Abigail Stewart, Margaret S. Robinson, Dorothy C. Bennett, Daniel F. Cutler, Juan S. Bonifacino, Michael S. Marks, Graça Raposo

Mol Biol Cell. 2005 Nov; 16(11): 5356–5372. doi: 10.1091/mbc.E05-07-0626

PMCID:: PMC1266432

Abstract Article PDF–1.6M

Select item 54659620.

Leucine-Specific, Functional Interactions between Human Immunodeficiency Virus Type 1 Nef and Adaptor Protein Complexes

Scott H. Coleman, Nanette Van Damme, John R. Day, Colleen M. Noviello, Douglas Hitchin, Ricardo Madrid, Serge Benichou, John C. Guatelli

J Virol. 2005 Feb; 79(4): 2066–2078. doi: 10.1128/JVI.79.4.2066-2078.2005

PMCID:: PMC546596

Abstract Article PDF–708K

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PMC Links for Gene (Select 8943) (108)
PMC
Homo sapiens tubulin beta 2B class IIb (TUBB2B), mRNA
Homo sapiens tubulin beta 2B class IIb (TUBB2B), mRNA
gi|1519243248|ref|NM_178012.5|

Nucleotide
AP-3 complex subunit delta-1 isoform X1 [Homo sapiens]
AP-3 complex subunit delta-1 isoform X1 [Homo sapiens]
gi|2217323633|ref|XP_047295553.1|

Protein
serine/threonine-protein kinase 26 isoform X1 [Homo sapiens]
serine/threonine-protein kinase 26 isoform X1 [Homo sapiens]
gi|2462629706|ref|XP_054183158.1|

Protein

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