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Min-Xin Guan

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Articles 209
Citations 3862
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Recent Articles
1.
Ai C, Li H, Wang C, Ji Y, Wallace D, Qian J, et al.
JCI Insight . 2025 Mar; PMID: 40036074
Leber hereditary optic neuropathy (LHON) is a paradigm for mitochondrial retinopathy due to mitochondrial DNA (mtDNA) mutations. However, the mechanism underlying retinal cell-specific effects of LHON-linked mtDNA mutations remains poorly...
2.
He Y, Tang Z, Zhu G, Cai L, Chen C, Guan M
J Biol Chem . 2024 Dec; 301(2):108124. PMID: 39716492
Human mitochondrial 12S ribosomal RNA (rRNA) 1555A>G mutation has been associated with aminoglycoside-induced and nonsyndromic deafness in many families worldwide. Our previous investigation revealed that the m.1555A>G mutation impaired mitochondrial...
3.
Wang C, Zhang L, Nie Z, Liang M, Liu H, Yi Q, et al.
JCI Insight . 2024 Nov; 10(1. PMID: 39561005
The degeneration of retinal ganglion cells (RGC) due to mitochondrial dysfunctions manifests optic neuropathy. However, the molecular components of RGC linked to optic neuropathy manifestations remain largely unknown. Here, we...
4.
You N, Liu C, Gu Y, Wang R, Jia H, Zhang T, et al.
Nat Commun . 2024 Oct; 15(1):9129. PMID: 39443442
We present SpliceTransformer (SpTransformer), a deep-learning framework that predicts tissue-specific RNA splicing alterations linked to human diseases based on genomic sequence. SpTransformer outperforms all previous methods on splicing prediction. Application...
5.
Jin L, Gan D, He W, Wu N, Xiang S, Wei Y, et al.
Adv Sci (Weinh) . 2024 Sep; 11(41):e2401856. PMID: 39264244
Leber's hereditary optic neuropathy (LHON), a maternally inherited ocular disease, is predominantly caused by mitochondrial DNA (mtDNA) mutations. Mitochondrial tRNA variants are hypothesized to amplify the pathogenic impact of three...
6.
Chen X, Meng F, Chen C, Li S, Chou Z, Xu B, et al.
J Biol Chem . 2024 Mar; 300(5):107235. PMID: 38552739
Defects in mitochondrial RNA metabolism have been linked to sensorineural deafness that often occurs as a consequence of damaged or deficient inner ear hair cells. In this report, we investigated...
7.
He Y, Zhu G, Li X, Zhou M, Guan M
iScience . 2024 Feb; 27(2):108883. PMID: 38318358
Mitochondria are dynamic organelles in cellular metabolism and physiology. Mitochondrial DNA (mtDNA) mutations are associated with a broad spectrum of clinical abnormalities. However, mechanisms underlying mtDNA mutations regulate intracellular signaling...
8.
Chen C, Guan M
J Biomed Sci . 2023 Sep; 30(1):82. PMID: 37737178
Mitochondria are essential organelles for cellular metabolism and physiology in eukaryotic cells. Human mitochondria have their own genome (mtDNA), which is maternally inherited with 37 genes, encoding 13 polypeptides for...
9.
Yang S, Xie B, Dong X, Wang L, Zhu G, Wang T, et al.
Front Mol Neurosci . 2023 Aug; 16:1079529. PMID: 37575969
Introduction: The pathogenic gene plays a pivotal role in tip links, which is indispensable for mechanoelectrical transduction in the hair cells. However, the underlying molecular mechanism and signal regulatory networks...
10.
Wang J, Ji Y, Ai C, Chen J, Gan D, Zhang J, et al.
J Biomed Sci . 2023 Aug; 30(1):63. PMID: 37537557
Background: Leber's hereditary optic neuropathy (LHON) is a maternally inherited eye disease due to mutations in mitochondrial DNA. However, there is no effective treatment for this disease. LHON-linked ND6 14484T ...