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

机译：常染色体隐性突变，ap3B2，适配器相关的蛋白质复合物亚基3 Beta 2中，导致早发年癫痫性脑病与视神经萎缩

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Assoum, Mirna; Philippe, Christophe; Isidor, Bertrand; Perrin, Laurence; Makrythanasis, Periklis; Sondheimer, Neal; Paris, Caroline; Douglas, Jessica; Lesca, Gaetan; Antonarakis, Stylianos; Hamamy, Hanan; Jouan, Thibaud; Duffourd, Yannis; Auvin, Stéphane; Saunier, Aline; Begtrup, Amber; Nowak, Catherine; Chatron, Nicolas; Ville, Dorothée; Mireskandari, Kamiar; Milani, Paolo; Jonveaux, Philippe; Lemeur, Guylène; Milh, Mathieu; Amamoto, Masano; Kato, Mitsuhiro; Nakashima, Mitsuko; Miyake, Noriko; Matsumoto, Naomichi; Masri, Amira; Thauvin-Robinet, Christel; Rivière, Jean-Baptiste; Faivre, Laurence; Thevenon, Julien;
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1. Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy [J] . Assoum Mirna, Philippe Christophe, Isidor Bertrand, The American Journal of Human Genetics . 2016,第6期

机译：AP3B2，与适配器相关的蛋白复合物3 Beta 2亚基的常染色体隐性突变，导致视神经萎缩的早发性癫痫性脑病
2. Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect [J] . Simons Cas, Griffin Laurie B., Helman Guy, The American Journal of Human Genetics . 2015,第4期

机译：功能丧失的丙氨酰-tRNA合成酶突变导致常染色体隐性隐匿性早期发作性癫痫性脑病，伴有持续性髓鞘形成缺陷。
3. Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy [J] . Fichera Marco, Failla Pinella, Saccuzzo Lucia, Human Genetics . 2019,第2期

机译：Actl6b中的突变，编码神经元特异性染色质重塑的络合物NBAF的亚基，导致早期发作严重发育和癫痫发育和癫痫发育和癫痫脑萎缩
4. Sarcomere protein gene mutations and inherited heart disease: a beta-cardiac myosin heavy chain mutation causing endocardial fibroelastosis and heart failure [C] . Mitsuhiro Kamisago, Joachim P. Schmitt, Dennis McNamara, Symposium on heart failure: Molecules, mechanisms and therapeutic targets . 2006

机译：Sarcomere蛋白质基因突变和遗传性心脏病：β-心肌肌苷重链突变导致心内膜肌肌瘤和心力衰竭
5. Mutational analysis of the E5 protein of human papillomavirus type 16 to analyze the role of interaction with the 16-kDa subunit of the vacuolar H(+)-ATPase in inhibiting activity of this complex and altering metabolism of the epidermal growth factor receptor. [D] . Adam, Jamie L. 2000

机译：人类乳头瘤病毒16型E5蛋白的突变分析，以分析与液泡H（+）-ATPase的16-kDa亚基相互作用在抑制该复合物活性和改变表皮生长因子受体代谢中的作用。
6. Autosomal-Recessive Mutations in AP3B2 Adaptor-Related Protein Complex 3 Beta 2 Subunit Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy [O] . Mirna Assoum, Christophe Philippe, Bertrand Isidor, 2016

机译：AP3B2与适配器相关的蛋白复合物3 Beta 2亚基的常染色体隐性突变导致视神经萎缩的早发性癫痫性脑病
7. Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy [O] . Assoum, Mirna, Philippe, Christophe, Isidor, Bertrand, 2016

机译：AP3B2，与适配器相关的蛋白复合物3 Beta 2亚基的常染色体隐性突变，导致视神经萎缩的早发性癫痫性脑病

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

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