PMC Links for OMIM (Select 602166) - PMC - NCBI

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Items: 4

Select item 51421041.

Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy

Mirna Assoum, Christophe Philippe, Bertrand Isidor, Laurence Perrin, Periklis Makrythanasis, Neal Sondheimer, Caroline Paris, Jessica Douglas, Gaetan Lesca, Stylianos Antonarakis, Hanan Hamamy, Thibaud Jouan, Yannis Duffourd, Stéphane Auvin, Aline Saunier, Amber Begtrup, Catherine Nowak, Nicolas Chatron, Dorothée Ville, Kamiar Mireskandari, Paolo Milani, Philippe Jonveaux, Guylène Lemeur, Mathieu Milh, Masano Amamoto, Mitsuhiro Kato, Mitsuko Nakashima, Noriko Miyake, Naomichi Matsumoto, Amira Masri, Christel Thauvin-Robinet, Jean-Baptiste Rivière, Laurence Faivre, Julien Thevenon

Am J Hum Genet. 2016 Dec 1; 99(6): 1368–1376. Published online 2016 Nov 23. doi: 10.1016/j.ajhg.2016.10.009

PMCID:: PMC5142104

Abstract Article PDF–442K

Select item 21208322.

A novel adaptor-related protein complex

J Cell Biol. 1996 May 2; 133(4): 749–760. doi: 10.1083/jcb.133.4.749

PMCID:: PMC2120832

Summary PDF–4.0M

Select item 15025013.

Regulation of large dense-core vesicle volume and neurotransmitter content mediated by adaptor protein 3

Chad P. Grabner, Steven D. Price, Anna Lysakowski, Anne L. Cahill, Aaron P. Fox

Proc Natl Acad Sci U S A. 2006 Jun 27; 103(26): 10035–10040. Published online 2006 Jun 20. doi: 10.1073/pnas.0509844103

PMCID:: PMC1502501

Abstract Article PDF–594K

Select item 214764.

ATM binds to β-adaptin in cytoplasmic vesicles

Dae-Sik Lim, David G. Kirsch, Christine E. Canman, Jin-Hyun Ahn, Yael Ziv, Lori S. Newman, Robert B. Darnell, Yosef Shiloh, Michael B. Kastan

Proc Natl Acad Sci U S A. 1998 Aug 18; 95(17): 10146–10151. doi: 10.1073/pnas.95.17.10146

PMCID:: PMC21476

Abstract Article PDF–244K

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