OPA1 mutations in dominant optic atrophy: domain-specific defects in mitochondrial fusion and apoptotic regulation

OPA1 mutations in dominant optic atrophy: domain-specific defects in mitochondrial fusion and apoptotic regulation

Abstract Background Autosomal dominant optic atrophy (ADOA), a leading common inherited optic neuropathy, arises from progressive retinal ganglion cell degeneration, often linked to OPA1 mutations. OPA1, a mitochondrial GTPase, regulates mitochondrial fusion, crista structure, and apoptosis. While G...

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Bibliographic Details
Main Authors: Kexuan Zhang, Wenqing Zhang, Lin Zhang, Xiaorong Hou, Runyi Tian, Zhengmao Hu, Lili Yin, Zhonghua Hu
Format: Article
Language:English
Published: BMC 2025-04-01
Series:Journal of Translational Medicine
Subjects:
Autosomal dominant optic atrophy (ADOA)
OPA1 mutations
Mitochondrial dynamics
Apoptosis
GTPase activity
Bundle signaling element (BSE)
Online Access:https://doi.org/10.1186/s12967-025-06471-w
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https://doi.org/10.1186/s12967-025-06471-w

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