李平   博士
	副教授   硕士生导师
	Email：pingli@sxu.edu.cn

---

博士毕业于德国科隆大学，山西省“三晋英才”青年优秀人才，山西省医学会罕见病学专业委员会常委，山西省生物化学与分子生物学会理事，山西省生物工程学会精准医疗与伴随诊断专委会委员，中国生物工程协会终身会员，国际期刊《Frontiers in Genetics》杂志的客座副主编。

主要研究方向：

近年来主要从事罕见病致病基因突变的鉴定及相关基因的功能研究，已经通过全外显子测序技术结合一代测序的方法鉴定出多种罕见病的致病基因突变，进行了详细的功能验证，部分成果以第一作者或通讯作者发表在Nucleic Acids Research、Free Radical Biology and Medicine、Human Mutation、Cellular Signalling、Cells等国际期刊上，兼任Frontiers in Genetics杂志的客座编辑。

 

招生专业：

1、学术型硕士：遗传学、生物化学与分子生物学

2、专业型硕士：生物与医药

 

主持项目：

主持国家自然科学基金青年项目，中央引导地方科技发展资金项目，山西省留学人员科技活动择优资助项目，山西省回国留学人员科研资助项目，山西省科技厅应用基础研究项目，山西省高等学校科技创新项目，山西省研究生教育教学改革课题等。

 

发表论文：

1. Li P*, Wu Y, Deng Z, Samad A, Xi Y, Song J, Zhang Y, Li J, Zhou YA, Xiong Q, Wu C*. Two novel SH3TC2 mutations predispose to Charcot-Marie-tooth disease type 4C by mistargeting away from TFRC. Cell Signal. 2025 Feb 15:111669.

2. Li P*, Xi Y, Zhang Y, Samad A, Lan W, Wu Y, Zhao J, Chen G, Wu C, Xiong Q*. GLA Mutations Suppress Autophagy and Stimulate Lysosome Generation in Fabry Disease. Cells. 2024 Mar 1;13(5):437.

3. Xiong Q*, Sun H, Wang Y, Xu Q, Zhang Y, Xu M, Zhao Z, Li P*, Wu C*. Lipid droplet accumulation in Wdr45-deficient cells caused by impairment of chaperone-mediated autophagic degradation of Fasn. Lipids Health Dis. 2024 Mar 28;23(1):91.

4. Xiong Q*, Sun H, Xing W, Li X, Chen G, Zhao Z, Wu C*, Li P*. WDR45 mutation dysregulates iron homeostasis by promoting the chaperone-mediated autophagic degradation of ferritin heavy chain in an ER stress/p38 dependent mechanism. Free Radic Biol Med. 2023 May 20; 201:89-97.

5. Li P*, Lan W, Li J, Zhang Y, Xiong Q, Ye J, Wu C, Xiao H*. Identification and Functional Evaluation of a Novel TBX4 Mutation Underlies Small Patella Syndrome. Int J Mol Sci. 2022 Feb 14;23(4):2075.

6. Li P*, Wu Y, Wu H, Xiong Q, Zhao N, Chen G, Wu C, Xiao H*. Functional Characterization of FH Mutation c.557G>A Underlies Uterine Leiomyomas. Int J Mol Sci. 2022 Jan 27;23(3):1452.

7. Zhang Y, Xiao H, Xiong Q, Wu C*, Li P*. Two Novel Hydroxymethylbilane Synthase Splicing Mutations Predispose to Acute Intermittent Porphyria. Int J Mol Sci. 2021 Oct 12; 22(20):11008.

8. Xiong Q*, Li X, Li W, Chen G, Xiao H, Li P*, Wu C*. WDR45 Mutation Impairs the Autophagic Degradation of Transferrin Receptor and Promotes Ferroptosis. Front Mol Biosci. 2021 May 3; 8:645831.

9. Han YX^#, Wang DM^#, Guo JL, Xiong QH, Li P*, Zhou YA*, Zhao B*. A novel splicing pathogenic variant in COL1A1 causing osteogenesis imperfecta (OI) type I in a Chinese family. Mol Genet & Genomic Med. 2020, Sep; 8(9): e1366.

10. Zhou Y^#, Li P^#*, Zhang Y, Xiong Q, Li C, Zhao Z, Wang Y, Xiao H*, Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree. Mol Genet & Genomic Med.  2020 Jan; 8(1): e1058.

11. Li P^#*, Zhang LJ^#, Zhao N, Xiong QH, Zhou YA, Wu CX*, Xiao H*, A Novel a-Galactosidase A Splicing Mutation Predisposes to Fabry Disease. Front. Genet. 2019, 10:60.

12. Li P^#*, Zhang LJ^#, Wang Z, Xiong QH, Zhou YA, Wang YX, Xiao H*, Wu CX*, Functional evaluation of a novel GLA causative mutation in Fabry disease, Mol Genet & Genomic Med. 2019 Sep;7(9):e864.

13. Li P, Stumpf M, Müller R, Eichinger L, Glöckner G, Noegel AA*, The function of the inner nuclear envelope protein SUN1 in mRNA export is regulated by phosphorylation. Sci Rep. 2017, 7(1):9157.

14. Li P, Noegel AA*, Inner nuclear envelope protein SUN1 plays a prominent role in mammalian mRNA export. Nucleic Acids Res. 2015, 43(20):9874-88.

15. Li P, Meinke P, Huong le TT, Wehnert M, Noegel AA*, Contribution of SUN1 mutations to the pathomechanism in muscular dystrophies. Hum Mutat. 2014, 35(4)：452-61.

16. Chen G, Yang Z, Wen D, Guo J, Xiong Q, Li P, Zhao L, Wang J, Wu C, Dong L. Polydatin has anti-inflammatory and antioxidant effects in LPS-induced macrophages and improves DSS-induced mice colitis. Immun Inflamm Dis. 2021 Sep 9(3):959-970.

17. Zhao N, Wu H, Li P, Wang Y, Dong L, Xiao H, Wu C. A novel pathogenic splice site variation in STK11 gene results in Peutz-Jeghers syndrome. Mol Genet Genomic Med. 2021 Aug 9(8): e1729.

18. Xiong Q, Song N, Li P, Fischer S, Konertz R, Wagle P, Glöckner G, Wu C, Eichinger L. RNAseq and quantitative proteomic analysis of Dictyostelium knock-out cells lacking the core autophagy proteins ATG9 and/or ATG16. BMC Genomics. 2021 Jun 15;22(1):444.

19. Zhao N, Yang Y, Li P, Xiong Q, Xiao H, Wu C. Identification of Two Novel Compound Heterozygous EIF2AK3 Mutations Underlying Wolcott-Rallison Syndrome in a Chinese Family. Front Pediatr. 2021 May 26; 9:679646.

20. Wang L, Xiong Q, Li P, Chen G, Tariq N, Wu C. The negative charge of the 343 site is essential for maintaining physiological functions of CXCR4. BMC Mol Cell Biol. 2021 Jan 23;22(1):8.

21. Wang M, Li P, Wang H, Dong L, Wu C, Zhao Z. Identification and spatiotemporal expression of gpr161 genes in zebrafish. Gene. 2020 Mar 10; 730:144303.

22. Xiong Q, Yang M, Li P, Wu C. Bacteria Exploit Autophagy For Their Own Benefit. Infect Drug Resist. 2019 Oct 11; 12:3205-3215.

23. Xiong Q, Li W, Li P, Zhao Z, Wu C, Xiao H. Functional evidence for a de novo mutation in WDR45 leading to BPAN in a Chinese girl. Mol Genet Genomic Med. 2019 Sep 7(9):e858.

24. Xiong Q, Li W, Li P, Yang M, Wu C, Eichinger L. The Role of ATG16 in Autophagy and The Ubiquitin Proteasome System. Cells. 2018 Dec 20;8(1):2.

25. Xiong Q, Liu Y, Xue Y, Liu S, Wang J, Li P, Wu C, Yang Y, Xiao H. A novel de novo mutation in COL2A1 leading to spondyloepiphyseal dysplasia congenita in a Chinese family. Hum Genome Var. 2018 Jan 11; 5:17059.