CHCHD2 rescues the mitochondrial dysfunction in iPSC-derived neurons from patient with Mohr-Tranebjaerg syndrome
Abstract Mohr-Tranebjaerg syndrome (MTS) is a rare X-linked recessive neurodegenerative disorder caused by mutations in the Translocase of Inner Mitochondrial Membrane 8A (TIMM8A) gene, which encodes TIMM8a, a protein localized to the mitochondrial intermembrane space (IMS). The pathophysiology of M...
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| Huvudupphov: | , , , , , , , , |
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| Materialtyp: | Artigo |
| Språk: | Inglês |
| Utgiven: |
Nature Publishing Group
2025-03-01
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| Serie: | Cell Death and Disease |
| Länkar: | https://doi.org/10.1038/s41419-025-07472-9 |
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