PI介紹
蔣萍萍
（ 教授(shou) ）
導(dao)師類型：博士生(sheng)導(dao)師
專(zhuan)業：兒童遺傳(chuan)性疾病及(ji)機(jī)理(li)，蛋白進(jin)化與重(zhong)組
郵(you)箱地阯(zhi)：ppjiang@zju.edu.cn
研究方(fang)向：
主(zhu)要從(cong)事兒童遺傳(chuan)疾病相關的(de)基因功能(néng)與緻病機(jī)理(li)研究
箇(ge)人(ren)簡介
蔣萍萍，博士，浙大(da)醫(yī)學(xué)院/附屬兒童醫(yī)院 教授(shou),博導(dao)。主(zhu)要從(cong)事兒童遺傳(chuan)疾病相關的(de)基因功能(néng)與緻病機(jī)理(li)研究，已在(zai)J Clin Invest、Nucleic Acids Res、PNAS等(deng)期刊髮(fa)表研究論文(wén)，研究工(gong)作(zuò)得到(dao)國(guo)傢(jia)科(ke)技(ji)部(bu)、國(guo)傢(jia)自然科(ke)學(xué)基金委(wei)等(deng)項(xiang)目(mu)資(zi)助。
主(zhu)要科(ke)研項(xiang)目(mu)
代(dai)表性論文(wén)（#第一(yi)作(zuò)者，*通(tong)訊作(zuò)者）
Li T, Bao Y, Xia Y, Meng H, Zhou C, Huang L, Wang X, Lai EY, Jiang P*, Mao J*. Loss of MTX2 causes mitochondrial dysfunction, podocyte injury, nephrotic proteinuria and glomerulopathy in mice and patients. Int.J. Biol. Sci, 2024, 20(3): 937-952. doi:10.7150/ijbs.89916.
Tong LX, Rao J, Yang CX, Xu J, Lu YJ, Zhang YC, Cang X, Xie S*, Mao J*, Jiang P*. Mutational burden of XPNPEP3 leads to defects in mitochondrial complex I and cilia in NPHPL1. iScience. 2023.26(8):107446.
Xu C, Tong L, Rao J, Ye Q, Chen Y, Zhang Y, Xu J, Mao X, Meng F, Shen H, Lu Z, Cang X, Fu H, Wang S, Gu W, Lai EY, Guan MX*, Jiang P*, Mao J*. Heteroplasmic and homoplasmic m.616T>C in mitochondria tRNAPhe promote isolated chronic kidney disease and hyperuricemia. JCI Insight. 2022:e157418.
Feng J, Yang C, Zhu L, Zhang Y, Zhao X, Chen C, Chen QX, Shu Q*, Jiang P*, Tong F*. Phenotype, genotype and long-term prognosis of 40 Chinese patients with isobutyryl-CoA dehydrogenase deficiency and a review of variant spectra in ACAD8. Orphanet J Rare Dis. 2021,16(1):392.
Yang R, Lu Y, Yang C, Wu X, Feng J, Zhu L, Shu Q*, Jiang P*. Case Report: Expanding the Digenic Variants Involved in Thyroid Hormone Synthesis-10 New Cases of Congenital Hypothyroidism and a Literature Review. Front Genet. 2021,12:694683.
Xu C, Yang C, Ye Q, Xu J, Tong L, Zhang Y, Shen H, Lu Z, Wang J, Lai E*, Mao J*, Jiang P*. Mosaic PKHD1 in Polycystic Kidneys Caused Aberrant Protein Expression in the Mitochondria and Lysosomes. Front Med. 2021,8:743150.
Chen T, Tong F, Wu XY, Zhu L, Yi QZ, Zheng J, Yang RL, Zhao ZY, Cang XH, Shu Q*, Jiang P*. Novel ACADVL variants resulting in mitochondrial defects in long chain acyl-CoA dehydrogenase deficiency. J Zhejiang Univ Sci B. 2020, 21(11):885-896.
Yu J, Liang X, Ji Y, Ai C, Liu J, Zhu L, Nie Z, Jin X, Wang C, Zhang J, Zhao F, Mei S, Zhao X, Zhou X, Zhang M, Wang M, Huang T, Jiang P*, Guan MX*. PRICKLE3 linked to ATPase biogenesis manifested Leber's hereditary optic neuropathy. J Clin Invest. 2020,130(9):4935-46.
Zhao X, Cui L, Xiao Y, Mao Q, Aishanjiang M, Kong W, Liu Y, Chen H, Hong F, Jia Z, Wang M, Jiang P*, Guan MX*. Hypertension-associated mitochondrial DNA 4401A>G mutation caused the aberrant processing of tRNAMet, all 8 tRNAs and ND6 mRNA in the light- strand transcript. Nucleic Acids Res. 2019, 47(19): 10340-56.
Wang M, Peng Y, Zheng J, Zheng B, Jin X, Liu H, Wang Y, Tang X, Huang T, Jiang P*, Guan MX*. A deafness-associated tRNAAsp mutation alters the m1G37 modification, aminoacylation and stability of tRNAAsp and mitochondrial function. Nucleic Acids Res. 2016, 44(22):10974-85.
Jiang P, Jin X, Peng Y, Wang M, Liu H, Liu X, Zhang Z, Ji Y, Zhang J, Liang M, Zhao F, Sun YH, Zhang M, Zhou X, Chen Y, Mo JQ, Huang T, Qu J, Guan MX*. The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation. Hum Mol Genet. 2016, 25(3):584-96.
Zhang D, Jiang P, Xu Q, Zhang X*. Arginine and glutamate-rich 1 (ARGLU1) interacts with mediator subunit 1 (MED1) and is required for estrogen receptor-mediated gene transcription and breast cancer cell growth. J Biol Chem. 2011, 286(20):17746-54.
Jiang P, Hu Q, Ito M, Meyer S, Waltz S, Khan S, Roeder RG, Zhang X*. Key roles for MED1 LxxLL motifs in pubertal mammary gland development and luminal-cell differentiation. Proc Natl Acad Sci USA. 2010, 107(15):6765-70.
代(dai)表性著作(zuò)
《醫(yī)學(xué)遺傳(chuan)學(xué)》（本(ben)科(ke)生(sheng)）參講
《研究生(sheng)科(ke)研技(ji)能(néng)訓練》（研究生(sheng)） 參講
獲獎
2015，浙江(jiang)省自然科(ke)學(xué)獎一(yi)等(deng)獎 “線(xiàn)粒體(ti)功能(néng)障礙在(zai)母係(xi)遺傳(chuan)性高(gao)血壓咊(he)聾病中(zhong)的(de)緻病作(zuò)用(yong)機(jī)製(zhi)研究”（3/5）
2018，省衛生(sheng)創新(xin)人(ren)才(cai)
