ATP13A2 (PARK9) 和基底性腺的功能.
Kristina M Croucher1,2, Sheila M Fleming1
1Department of Pharmaceutical Sciences, Northeast Ohio Medical University, Rootstown, OH, United States.
Frontiers in neurology
|January 22, 2024
概括
ATP13A2 (一种 lysosomal 蛋白质) 的突变通过损害基底腺功能而导致神经退行性疾病. 像重金属这样的环境毒素加剧了这种功能障碍,突出了基因与环境的相互作用.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 是一个遗传学.
- 毒理学 毒理学 毒理学
背景情况:
- ATP13A2是一种溶酶体蛋白质,对聚胺运输至关重要.
- ATP13A2中的功能丧失突变与各种神经退行性疾病有关.
- 这些疾病包括帕金森病,库福-拉克布综合征和ALS,通常会影响基底腺.
研究的目的:
- 审查ATP13A2在基底腺功能和功能障碍中的作用.
- 探索ATP13A2相关疾病中常见的病理机制.
- 检查基因x环境相互作用对基底腺功能障碍的贡献.
主要方法:
- 关于ATP13A2功能和相关的神经退行性疾病的文献综述.
- 对基底腺对环境因素的脆弱性的分析.
- 调查ATP13A2损伤和重金属毒性之间的联系.
主要成果:
- ATP13A2突变与一系列神经退行性疾病有关.
- 基底腺常常受到影响,显示对环境毒素的脆弱性.
- 功能受损的ATP13A2与,铁和的毒性有关.
结论:
- ATP13A2在维持基底腺健康方面发挥着至关重要的作用.
- 基因x环境相互作用,特别是与重金属的相互作用,与ATP13A2相关的神经退行有关.
- 了解这些机制是解决复杂神经退行性疾病的关键.
关键词:
库福 - 拉基布综合征帕金森病是帕金森氏症的一种疾病.这是一种α-synuclein.铁是铁,铁是铁,铁是铁.酸是一种酸.线粒体中的线粒体.神经神经元的seroid lipofuscinosis 发生在神经元中.,和的使用情况.更多相关视频
10:41Implantation of Osmotic Pumps and Induction of Stress to Establish a Symptomatic, Pharmacological Mouse Model for DYT/PARK-ATP1A3 Dystonia
Published on: September 12, 2020
7.4K
07:32Analyzing Mitochondrial Transport and Morphology in Human Induced Pluripotent Stem Cell-Derived Neurons in Hereditary Spastic Paraplegia
Published on: February 9, 2020
7.8K
相关概念视频
ATP Synthase: Mechanism
14.6K
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...
14.6K
Lysosomal Hydrolases
3.8K
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
3.8K
Parkinson's Disease: Overview
551
Neurodegenerative disorders are progressive diseases that cause irreversible damage and loss to neurons in specific brain areas. Examples of these disorders include Parkinson's disease, Alzheimer's disease, Multiple Sclerosis (MS), and Amyotrophic Lateral Sclerosis (ALS). These disorders share characteristics such as proteinopathies, selective neuronal vulnerability, and a complex interplay between genetic and environmental factors. The primary therapeutic goal for these conditions is...
551
ATP Synthase: Structure
12.4K
ATP synthase or ATPase is among the most conserved proteins found in bacteria, mammals, and plants. This enzyme can catalyze a forward reaction in response to the electrochemical gradient, producing ATP from ADP and inorganic phosphate. ATP synthase can also work in a reverse direction by hydrolyzing ATP and generating an electrochemical gradient. Different forms of ATP synthases have evolved special features to meet the specific demands of the cell. Based on their specific feature, ATP...
12.4K
Neural Regulation
39.4K
Digestion begins with a cephalic phase that prepares the digestive system to receive food. When our brain processes visual or olfactory information about food, it triggers impulses in the cranial nerves innervating the salivary glands and stomach to prepare for food.
39.4K
ATP Driven Pumps II: P-type Pumps
4.9K
The P-type pumps are a large family of integral membrane transporter ATPases. They are divided into five major types based on substrate specificity, from I to V.
A typical P-type pump has three cytosolic domains: nucleotide-binding (N), phosphorylation (P), and activator (A) domains. These domains are connected to the membrane-spanning helices by short amino acid segments. ATP hydrolysis and covalent phosphoenzyme intermediate formation are crucial parts of the catalytic cycle. At the highly...
A typical P-type pump has three cytosolic domains: nucleotide-binding (N), phosphorylation (P), and activator (A) domains. These domains are connected to the membrane-spanning helices by short amino acid segments. ATP hydrolysis and covalent phosphoenzyme intermediate formation are crucial parts of the catalytic cycle. At the highly...
4.9K
