参考文献/References:
[1] Delprat B,Maurice T,Delettre C.Wolfram syndrome:MAMs'connection?[J].Cell Death Dis,2018,9(3):364.DOI:10.1038/s41419-018-0406-3.
[2] 王丹丹,吴继红.WFS1相关Wolfram综合征1型的遗传学与临床最新进展[J].中国眼耳鼻喉科杂志,2019,19(3):207-211.DOI:10.14166/j.issn.1671-2420.2019.03.021.
[3] Taraa W,Drachal E,Mazur A,et al.Wolfram Syndrome.Case report[J].Pediatr Endocrinol Diabetes Metab,2016,22(1):39-42.DOI:10.18544/PEDM-22.01.0049.
[4] Rigoli L,Aloi C,Salina A,et al.Wolfram syndrome 1 in the Italian population: genotype-phenotype correlations[J].Pediatr Res,2020,87(3):456-462.DOI:10.1038/s41390-019-0487-4.
[5] Samara A,Rahn R,Neyman O,et al.Developmental hypomyelination in Wolfram syndrome: new insights from neuroimaging and gene expression analyses[J].Orphanet J Rare Dis,2019,14(1):279.DOI:10.1186/s13023-019-1260-9.
[6] Yeh CH,Shen ZQ,Hsiung SY,et al.Cisd2 is essential to delaying cardiac aging and to maintaining heart functions[J].PLoS Biol,2019,17(10):e3000508.DOI:10.1371/journal.pbio.3000508.
[7] Pallotta MT,Tascini G,Crispoldi R,et al.Wolfram syndrome,a rare neurodegenerative disease: from pathogenesis to future treatment perspectives[J].J Transl Med,2019,17(1):238.DOI:10.1186/s12967-019-1993-1.
[8] Wang DD,Hu FY,Gao FJ,et al.The precise diagnosis of Wolfram syndrome type 1 based on Next-Generation sequencing[J].Front Genet,2019,10:1217.DOI:10.3389/fgene.2019.01217.
[9] Toots M,Seppa K,Jagomäe T,et al.Preventive treatment with liraglutide protects against development of glucose intolerance in a rat model of Wolfram syndrome[J].Sci Rep,2018,8(1):10183.DOI:10.1038/s41598-018-28314-z.
[10] Seppa K,Toots M,Reimets R,et al.GLP-1 receptor agonist liraglutide has a neuroprotective effect on an aged rat model of Wolfram syndrome[J].Sci Rep,2019,9(1):15742.DOI:10.1038/s41598-019-52295-2.
[11] Kondo M,Tanabe K,Amo-Shiinoki K,et al.Activation of GLP-1 receptor signalling alleviates cellular stresses and improves beta cell function in a mouse model of Wolfram syndrome[J].Diabetologia,2018,61(10):2189-2201.DOI:10.1007/s00125-018-4679-y.
[12] Sedman T,Rünkorg K,Krass M,et al.Exenatide is an effective antihyperglycaemic agent in a mouse model of Wolfram syndrome 1[J].J Diabetes Res,2016,2016:9239530.DOI:10.1155/2016/9239530.
[13] Toppings NB,Mcmillan JM,Au PYB,et al.Wolfram Syndrome:a case report and review of clinical manifestations,genetics pathophysiology,and potential therapies[J].Case Rep Endocrinol,2018,2018:9412676.DOI:10.1155/2018/9412676.
[14] So JS.Roles of endoplasmic reticulum stress in immune responses[J].Mol Cells,2018,41(8):705-716.DOI:10.14348/molcells.2018.0241.
[15] Shang L,Hua H,Foo K,et al.β-cell dysfunction due to increased ER stress in a stem cell model of Wolfram syndrome[J].Diabetes,2014,63(3):923-933.DOI:10.2337/db13-0717.
[16] Abreu D,Stone SI,Pearson TS,et al.A phase Ib/IIa clinical trial of dantrolene sodium in patients with Wolfram syndrome[J]. JCI Insight,2021,6(15):e145188.DOI:10.1172/jci.insight.145188.
[17] Li Z,Wu F,Zhang X,et al.Valproate attenuates endoplasmic reticulum stress-induced apoptosis in SH-SY5Y cells via the AKT/GSK3βsignaling pathway[J].Int J Mol Sci,2017,18(2):315.DOI:10.3390/ijms18020315.
[18] Sun XY,Qin HJ,Zhang Z,et al.Valproate attenuates diabetic nephropathy through inhibition of endoplasmic reticulum stressinduced apoptosis[J].Mol Med Rep,2016,13(1):661-668.DOI:10.3892/mmr.2015.4580.
[19] Hamel C,Jagodzinska J,Bonner-Wersinger D,et al.Advances in gene therapy for Wolfram syndrome[J].Acta Ophthalmologica,2017,95(S259).DOI:10.1111/j.1755-3768.2017.03174.
[20] Urano F.Wolfram syndrome iPS cells:the first human cell model of endoplasmic reticulum disease[J].Diabetes,2014,63(3):844-846.DOI:10.2337/db13-1809.
相似文献/References:
[1]孙敏讷,段宇.老年亚临床甲状腺功能减退症的诊治特点[J].国际内分泌代谢杂志,2014,(06):411.[doi:10.3760/cma.j.issn.1673-4157.2014.06.014]
Sun Minne,Duan Yu..Diagnositc and therapeutic characteristics of subclinical hypothyroidism in elderly people[J].International Journal of Endocrinology and Metabolism,2014,(05):411.[doi:10.3760/cma.j.issn.1673-4157.2014.06.014]
[2]胡欣 陈国芳 刘超.男性迟发型性腺功能减退症的诊断与治疗[J].国际内分泌代谢杂志,2015,(01):59.[doi:10.3760/cma.j.issn.1673-4157.2015.01.015]
Hu Xin,Chen Guofang,Liu Chao..Diagnosis and therapeutic options for late-onset hypogonadism in men[J].International Journal of Endocrinology and Metabolism,2015,(05):59.[doi:10.3760/cma.j.issn.1673-4157.2015.01.015]
[3]刘晓蓉 朱德发.糖尿病下肢动脉病变的诊断与治疗[J].国际内分泌代谢杂志,2015,(05):327.[doi:DOI:10.3760/cma.j.issn.1673-4157.2015.05.010]
Liu Xiaorong*,Zhu Defa..Diagnosis and treatment of lower extremity arterial disease in diabetes mellitus[J].International Journal of Endocrinology and Metabolism,2015,(05):327.[doi:DOI:10.3760/cma.j.issn.1673-4157.2015.05.010]
[4]曹琳,刘超.妊娠糖尿病诊疗的争议与共识[J].国际内分泌代谢杂志,2016,36(03):176.[doi:10.3760/cma.j.issn.1673-4157.2016.03.08]
Cao Lin,Liu Chao..Controversy and concensus on the diagnosis and treatment of gestational diabetes mellitus[J].International Journal of Endocrinology and Metabolism,2016,36(05):176.[doi:10.3760/cma.j.issn.1673-4157.2016.03.08]
[5]毛斐,鹿斌,李益明.SUDOSCAN对糖尿病周围神经病变的诊断价值[J].国际内分泌代谢杂志,2016,36(05):331.[doi:10.3760/cma.j.issn.1673-4157.2016.05.12]
Mao Fei,Lu Bin,Li Yiming.Diagnostic value of SUDOSCAN in detecting diabetic peripheral neuropathy[J].International Journal of Endocrinology and Metabolism,2016,36(05):331.[doi:10.3760/cma.j.issn.1673-4157.2016.05.12]
[6]郑仁东,刘超.糖尿病合并男性性腺功能减退症的识别与处理[J].国际内分泌代谢杂志,2016,36(06):394.[doi:10.3760/cma.j.issn.1673-4157.2016.06.09]
Zheng Rendong,Liu Chao..Recognition and treatment of diabetes with male hypogonadism[J].International Journal of Endocrinology and Metabolism,2016,36(05):394.[doi:10.3760/cma.j.issn.1673-4157.2016.06.09]
[7]刘颖丰,刘芳.角膜共聚焦显微镜对糖尿病周围神经病变的诊断价值[J].国际内分泌代谢杂志,2017,37(03):178.[doi:10.3760/cma.j.issn.1673-4157.2017.03.009]
Liu Yingfeng,Liu Fang..Diagnostic value of corneal confocal microscopy on diabetic peripheral neuropathy[J].International Journal of Endocrinology and Metabolism,2017,37(05):178.[doi:10.3760/cma.j.issn.1673-4157.2017.03.009]
[8]曹白露,邵加庆.SUDOSCAN在糖尿病微血管并发症早期诊断
及治疗评估中的作用[J].国际内分泌代谢杂志,2017,37(06):401.
Cao Bailu,Shao Jiaqing..The value of SUDOSCAN in the early diagnosis and evaluation of diabetic microvascular complications[J].International Journal of Endocrinology and Metabolism,2017,37(05):401.
[9]赵万霞 王何婷 任月秋 崔景秋.糖尿病肾病早期标志物研究新进展[J].国际内分泌代谢杂志,2018,38(03):192.[doi:10.3760/cma.j.issn.1673-4157.2018.03.012]
Zhao Wanxia*,Wang Heting,Ren Yueqiu,et al.Recent progress on the study of early marker for diabetic nephrophy[J].International Journal of Endocrinology and Metabolism,2018,38(05):192.[doi:10.3760/cma.j.issn.1673-4157.2018.03.012]
[10]邹梦晨 胡萍 罗祥蓉 蒋娅 高方 曹瑛.糖尿病足骨髓炎的诊疗进展[J].国际内分泌代谢杂志,2018,38(04):257.[doi:10.3760/cma.j.issn.1673-4157.2018.04.010]
Zou Mengchen,Hu Ping,Luo Xiangrong,et al.Diagnosis and treatment of diabetic foot osteomyelitis[J].International Journal of Endocrinology and Metabolism,2018,38(05):257.[doi:10.3760/cma.j.issn.1673-4157.2018.04.010]