A novel genomic mutation in ADNP leading to intellectual disability.
作者信息
Gozes Illana
机构信息
Elton Laboratory for Molecular Neuroendocrinology, Department of Human Molecular Genetics and Biochemistry, Faculty of Medicine, Adams Super Center for Brain Studies and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, 69978, Israel.
出版信息
Eur J Hum Genet. 2023 Aug;31(8):851-852. doi: 10.1038/s41431-023-01387-9. Epub 2023 May 22.
Abstract
摘要
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Anti-aging Effects of Alu Antisense RNA on Human Fibroblast Senescence Through the MEK-ERK Pathway Mediated by KIF15.通过 KIF15 介导的 MEK-ERK 通路对人成纤维细胞衰老的反 Aging 作用的 Alu 反义 RNA。
Curr Med Sci. 2023 Feb;43(1):35-47. doi: 10.1007/s11596-022-2688-z. Epub 2023 Feb 20.
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A novel davunetide (NAPVSIPQQ to NAPVSIPQE) point mutation in activity-dependent neuroprotective protein (ADNP) causes a mild developmental syndrome.一种新型的活性依赖性神保护蛋白（ADNP）中的 davunetide（NAPVSIPQQ 至 NAPVSIPQE）点突变导致一种轻度的发育综合征。
Eur J Neurosci. 2023 Jul;58(2):2641-2652. doi: 10.1111/ejn.15920. Epub 2023 Feb 9.
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LINE-1 and Alu methylation signatures in autism spectrum disorder and their associations with the expression of autism-related genes.自闭症谱系障碍中的 LINE-1 和 Alu 甲基化特征及其与自闭症相关基因表达的关联。
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Novel ADNP Syndrome Mice Reveal Dramatic Sex-Specific Peripheral Gene Expression With Brain Synaptic and Tau Pathologies.新型 ADNP 综合征小鼠表现出显著的性别特异性外周基因表达，伴有脑部突触和 Tau 病理。
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Discovery of autism/intellectual disability somatic mutations in Alzheimer's brains: mutated ADNP cytoskeletal impairments and repair as a case study.在阿尔茨海默病大脑中发现自闭症/智力残疾的躯体突变：以突变的 ADNP 细胞骨架损伤和修复为例。
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Activity-dependent neuroprotective protein deficiency models synaptic and developmental phenotypes of autism-like syndrome.活性依赖型神经保护蛋白缺乏模型的突触和发育表型类似于自闭症综合征。
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