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Updated: May 30, 2025

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在一个发育迟缓和的中国男孩身上发现了一种新的ATP7A变异

Yun Zhou1, Junhua Wu2, Jian Xu3

  • 1Department of Neurology, Women and Children's Hospital of Ningbo University, Ningbo, China.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience
|January 31, 2025
PubMed
概括

门克斯病 (MD) 是一种罕见的遗传疾病,是由影响铜运输的ATP7A基因突变引起的. 这项研究在一个中国家庭中发现了一种新的ATP7A突变,突出了诊断方面的挑战.

关键词:
在 ATP7A 中,是一种.神经发育障碍是一种神经发育障碍.整体外基因组测序的测序

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相关概念视频

ATP Synthase: Mechanism01:48

ATP Synthase: Mechanism

In animals, the mitochondrial F1F0 ATP synthase is the key protein that synthesizes ATP molecules through a complex catalytic mechanism. While the nuclear genome encodes the majority of ATP synthase subunits, the mitochondrial genome encodes some of the enzyme's most critical components. The formation of this multi-subunit enzyme is a complex multi-step process regulated at the level of transcription, translation, and assembly. Defects in one or more of these steps can result in decreased...
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