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DIDMOAD syndrome; further studies and muscle biochemistry.

作者信息

Barrett T G, Poulton K, Bundey S

机构信息

Department of Clinical Genetics, Birmingham Maternity Hospital, UK.

出版信息

J Inherit Metab Dis. 1995;18(2):218-20. doi: 10.1007/BF00711771.

DOI:10.1007/BF00711771
PMID:7564251
Abstract
摘要

相似文献

1
DIDMOAD syndrome; further studies and muscle biochemistry.
J Inherit Metab Dis. 1995;18(2):218-20. doi: 10.1007/BF00711771.
2
Wolfram syndrome: mitochondrial disorder.沃夫勒姆综合征：线粒体疾病。
Lancet. 1993 Oct 23;342(8878):1059-60.
3
Aerobic performance and oxygen free-radicals.有氧代谢能力与氧自由基
J Sports Med Phys Fitness. 1993 Sep;33(3):205-22.
4
Mitochondrial myopathies involving the respiratory chain: a biochemical analysis.涉及呼吸链的线粒体肌病：生化分析
Ann N Y Acad Sci. 1986;488:33-43. doi: 10.1111/j.1749-6632.1986.tb46546.x.
5
Biochemical and molecular studies of mitochondrial function in diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.
Diabetes Care. 1994 Jul;17(7):728-33. doi: 10.2337/diacare.17.7.728.
6
Mitochondrial electron transport chain defect presenting as hypoglycemia.
J Pediatr. 1997 Mar;130(3):431-6. doi: 10.1016/s0022-3476(97)70206-3.
7
Changes in skeletal muscle, heart and liver mitochondrial electron transport activities in rats and dogs of various ages.不同年龄大鼠和犬骨骼肌、心脏及肝脏线粒体电子传递活性的变化
Biochem Mol Biol Int. 1993 Aug;30(5):937-44.
8
Assessment of mitochondrial oxidative phosphorylation in patient muscle biopsies, lymphoblasts, and transmitochondrial cell lines.对患者肌肉活检样本、淋巴母细胞和转线粒体细胞系中线粒体氧化磷酸化的评估。
Methods Enzymol. 1996;264:484-509. doi: 10.1016/s0076-6879(96)64044-0.
9
Human mitochondrial respiratory chain deficiencies.人类线粒体呼吸链缺陷
Aust Paediatr J. 1988;24 Suppl 1:55-7.
10
Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy and deafness (DIDMOAD, Wolfram syndrome).一例早发型糖尿病、视神经萎缩和耳聋（DIDMOAD，沃尔夫勒姆综合征）患者线粒体DNA的缺失
J Inherit Metab Dis. 1993;16(3):527-30. doi: 10.1007/BF00711672.

引用本文的文献

1
Beyond Wolfram Syndrome 1: The Gene's Role in Alzheimer's Disease and Sleep Disorders.超越沃拉夫综合征 1：该基因在阿尔茨海默病和睡眠障碍中的作用。
Biomolecules. 2024 Oct 31;14(11):1389. doi: 10.3390/biom14111389.
2
Genomics of Wolfram Syndrome 1 (WFS1).Wolfram 综合征 1 型（WFS1）的基因组学。
Biomolecules. 2023 Sep 4;13(9):1346. doi: 10.3390/biom13091346.
3
GLP-1 receptor agonist liraglutide has a neuroprotective effect on an aged rat model of Wolfram syndrome.利拉鲁肽作为 GLP-1 受体激动剂对衰老型 WOLFRAM 综合征大鼠模型具有神经保护作用。

本文引用的文献

1
Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observed in a patient with Wolfram syndrome (DIDMOAD).在一名患有沃夫勒姆综合征（DIDMOAD）的患者中观察到与Leber遗传性视神经病变相关的线粒体突变。
J Med Genet. 1994 Apr;31(4):328-30. doi: 10.1136/jmg.31.4.328.
2
Biochemical and molecular studies of mitochondrial function in diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.
Diabetes Care. 1994 Jul;17(7):728-33. doi: 10.2337/diacare.17.7.728.
3
Low leukocyte glutamate dehydrogenase activity does not correlate with a particular type of multiple system atrophy.低白细胞谷氨酸脱氢酶活性与特定类型的多系统萎缩无关。
Sci Rep. 2019 Oct 31;9(1):15742. doi: 10.1038/s41598-019-52295-2.
4
Preventive treatment with liraglutide protects against development of glucose intolerance in a rat model of Wolfram syndrome.利拉鲁肽预防性治疗可预防沃尔弗拉姆综合征大鼠模型葡萄糖不耐受的发展。
Sci Rep. 2018 Jul 5;8(1):10183. doi: 10.1038/s41598-018-28314-z.
5
Sarco(endo)plasmic reticulum ATPase is a molecular partner of Wolfram syndrome 1 protein, which negatively regulates its expression.肌（内）质网ATP酶是沃尔弗拉姆综合征1蛋白的分子伴侣，可负向调节其表达。
Hum Mol Genet. 2015 Feb 1;24(3):814-27. doi: 10.1093/hmg/ddu499. Epub 2014 Sep 30.
6
Wolfram (DIDMOAD) syndrome.沃夫勒姆（尿崩症、糖尿病、视神经萎缩及神经性耳聋）综合征
J Med Genet. 1997 Oct;34(10):838-41. doi: 10.1136/jmg.34.10.838.
J Neurol Neurosurg Psychiatry. 1988 Dec;51(12):1508-11. doi: 10.1136/jnnp.51.12.1508.
4
Leukocyte glutamate dehydrogenase activity in patients with degenerative neurological disorders.退行性神经疾病患者的白细胞谷氨酸脱氢酶活性
J Neurol Neurosurg Psychiatry. 1988 Jul;51(7):893-902. doi: 10.1136/jnnp.51.7.893.
5
Defects in oxidative phosphorylation. Biochemical investigations in skeletal muscle and expression of the lesion in other cells.氧化磷酸化缺陷。骨骼肌的生化研究及其他细胞中病变的表现。
J Inherit Metab Dis. 1987;10 Suppl 1:81-97. doi: 10.1007/BF01812849.
6
Evaluation of procedures for assaying oxidative phosphorylation enzyme activities in mitochondrial myopathy muscle biopsies.线粒体肌病肌肉活检中氧化磷酸化酶活性检测程序的评估
Biochim Biophys Acta. 1990 Aug 9;1019(1):1-10. doi: 10.1016/0005-2728(90)90118-n.
7
Mitochondrial abnormalities in the DIDMOAD syndrome.尿崩症 - 糖尿病 - 视神经萎缩 - 耳聋综合征中的线粒体异常。
J Inherit Metab Dis. 1992;15(3):315-9. doi: 10.1007/BF02435965.
8
Juvenile diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, atonia of the urinary tract and bladder, and other abnormalities (Wolfram syndrome). A review of 88 cases from the literature with personal observations on 3 new patients.青少年糖尿病、视神经萎缩、听力丧失、尿崩症、泌尿道和膀胱张力缺乏以及其他异常情况（沃尔弗拉姆综合征）。对文献中88例病例的综述以及对3例新患者的个人观察。
Acta Paediatr Scand Suppl. 1977(264):1-16. doi: 10.1111/j.1651-2227.1977.tb15069.x.