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Updated: Jun 22, 2025

In Vivo Modeling of the Morbid Human Genome using Danio rerio
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在ZASP/LDB3 Pro26Ser和包容性身体肌肉病之间存在关联

Daniela Piga1, Simona Zanotti2, Michela Ripolone2

  • 1Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.

International journal of molecular sciences
|June 27, 2024
PubMed
概括

这项研究在遗传性包容体肌炎 (IBM) 患者中发现了一种新的LBD3/ZASP基因突变,揭示了早期发病和独特的症状,如眼. 这有助于人们对IBM的理解.

关键词:
在 ZASP/LDB3 中.类似于核心的改变.包括体肌肉炎的包括体肌肉炎这是下一代测序.有边框的真空孔.

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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,...
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