1 | AP3B2, EIEE48 |
Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy. | |
Assoum M, Philippe C, Isidor B, Perrin L, Makrythanasis P, Sondheimer N, Paris C, Douglas J, Lesca G, Antonarakis S, Hamamy H, Jouan T, Duffourd Y, Auvin S, Saunier A, Begtrup A, Nowak C, Chatron N, Ville D, Mireskandari K, Milani P, Jonveaux P, Lemeur G, Milh M, Amamoto M, Kato M, Nakashima M, Miyake N, Matsumoto N, Masri A, Thauvin-Robinet C, Rivière JB, Faivre L, Thevenon J. | |
Am J Hum Genet 99(6):1368-1376. doi: 10.1016/j.ajhg.2016.10.009. 2016 | |
2 | AP3B2, EPB41L2 |
Protein-4.1G-Mediated Membrane Trafficking Is Essential for Correct Rod Synaptic Location in the Retina and for Normal Visual Function. | |
Sanuki R, Watanabe S, Sugita Y, Irie S, Kozuka T, Shimada M, Ueno S, Usukura J, Furukawa T. | |
Cell Rep ell Rep. 2015 Feb 4. pii: S2211-1247(15)00006-6. doi: 10.1016/j.celrep.2015.01.005. [Epub ahead of print] 2015 | |
3 | AP3B2, FBXO38 |
Two-stage comprehensive evaluation of genetic susceptibility of common variants in FBXO38, AP3B2 and WHAMM to severe chronic periodontitis. | |
Shang D, Dong L, Zeng L, Yang R, Xu J, Wu Y, Xu R, Tao H, Zhang N. | |
Sci Rep 5:17882. doi: 10.1038/srep17882. 2015 | |
4 | AP3B2 |
Characterization of AP3B2_v2, a novel splice variant of human AP3B2. | |
Chen C, Zou X, Ji C, Zhao S, Lv L, Gu S, Xie Y, Mao Y. | |
DNA Seq 18(3):165-8. 2007 | |
5 | AP3B2 |
Beta-NAP, a cerebellar degeneration antigen, is a neuron-specific vesicle coat protein. | |
Newman LS, McKeever MO, Okano HJ, Darnell RB. | |
Cell 82(5):773-83. 1995 | |
6 | AP3B2 |
Antiserum from a patient with cerebellar degeneration identifies a novel protein in Purkinje cells, cortical neurons, and neuroectodermal tumors. | |
Darnell RB, Furneaux HM, Posner JB. | |
J Neurosci 11(5):1224-30. 1991 | |