PubMed (GeneRIF) for id: 8120

Year	Number of Results
2007	1
2009	1
2015	1
2016	1
2019	1
2021	1
2022	2
2024	0

1

Novel homozygous AP3B2 mutations in four individuals with developmental and epileptic encephalopathy: A rare clinical entity.

Dilber C, Yücel G, Şahin Y. Dilber C, et al. Clin Neurol Neurosurg. 2022 Dec;223:107509. doi: 10.1016/j.clineuro.2022.107509. Epub 2022 Nov 3. Clin Neurol Neurosurg. 2022. PMID: 36356440

2

Plasma lncRNA LOC338963 and mRNA AP3B2 are upregulated in paraneoplastic Lambert-Eaton myasthenic syndrome.

Yang F, Jing F, Li Y, Kong S, Zhang S, Huo Y, Huang X, Yu S. Yang F, et al. Muscle Nerve. 2022 Aug;66(2):216-222. doi: 10.1002/mus.27571. Epub 2022 May 25. Muscle Nerve. 2022. PMID: 35508598

3

Blended phenotype of combination of HERC2 and AP3B2 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15.

Ueda K, Ogawa S, Matsuda K, Hasegawa Y, Nishi E, Yanagi K, Kaname T, Yamamoto T, Okamoto N. Ueda K, et al. Am J Med Genet A. 2021 Oct;185(10):3092-3098. doi: 10.1002/ajmg.a.62371. Epub 2021 May 27. Am J Med Genet A. 2021. PMID: 34042275

4

Autoimmune gait disturbance accompanying adaptor protein-3B2-IgG.

Honorat JA, Lopez-Chiriboga AS, Kryzer TJ, Komorowski L, Scharf M, Hinson SR, Lennon VA, Pittock SJ, Klein CJ, McKeon A. Honorat JA, et al. Neurology. 2019 Sep 3;93(10):e954-e963. doi: 10.1212/WNL.0000000000008061. Epub 2019 Aug 1. Neurology. 2019. PMID: 31371564 Free PMC article.

5

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. Assoum M, et al. Am J Hum Genet. 2016 Dec 1;99(6):1368-1376. doi: 10.1016/j.ajhg.2016.10.009. Epub 2016 Nov 23. Am J Hum Genet. 2016. PMID: 27889060 Free PMC article.

6

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. Shang D, et al. Sci Rep. 2015 Dec 8;5:17882. doi: 10.1038/srep17882. Sci Rep. 2015. PMID: 26643602 Free PMC article.

7

Association analysis between schizophrenia and the AP-3 complex genes.

Hashimoto R, Ohi K, Okada T, Yasuda Y, Yamamori H, Hori H, Hikita T, Taya S, Saitoh O, Kosuga A, Tatsumi M, Kamijima K, Kaibuchi K, Takeda M, Kunugi H. Hashimoto R, et al. Neurosci Res. 2009 Sep;65(1):113-5. doi: 10.1016/j.neures.2009.05.008. Epub 2009 May 27. Neurosci Res. 2009. PMID: 19481122

8

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. Chen C, et al. DNA Seq. 2007 Jun;18(3):165-8. doi: 10.1080/10425170600842121. DNA Seq. 2007. PMID: 17453999

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