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Updated: May 23, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

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与FERRY复合体突变相关的神经遗传障碍:一种新型疾病类?

R Madison Riffe1,2, Gerald B Downes1,2,3

  • 1Neuroscience and Behavior Graduate Program, University of Massachusetts Amherst, Amherst, MA, 01003, USA.

Biology open
|March 10, 2025
PubMed
概括

参与mRNA运输的FERRY复合体连接了三个罕见的神经遗传疾病. 研究表明,这些情况可能有共同的疾病类别,有助于理解和治疗.

关键词:
费里 (FERRY) 综合体是一个复杂的建筑群.在FERRY3上,你会看到FERRY3.神经遗传性疾病是一种神经遗传性疾病.在PPP1R2121中,拉布5拉布5 拉布5拉布5这就是TBCK的意思.

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