HSD17B4 mutation: an unusual cause of cerebellar ataxia

被引：0
|
作者：
Mehta, Sahil [1 ]
Singh, Jagdeep [1 ]
Sharma, Ashish [1 ]
Kumar, Manoj [1 ]
Lal, Vivek [1 ]
机构：
[1] Post Grad Inst Med Educ & Res, Dept Neurol, Chandigarh 160012, India
来源：
NEUROLOGICAL SCIENCES | 2025年 / 46卷 / 02期
关键词：
BIFUNCTIONAL PROTEIN-DEFICIENCY;
D O I：
10.1007/s10072-024-07779-z
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
引用
收藏
页码：1055 / 1057
页数：3
相关论文
共 50 条
  • [21] Overexpression of HSD17B4 exerts tumor suppressive function in adrenocortical carcinoma and is not associated with hormone excess
    Ding, Guanxiong
    Liu, Shenghua
    Ding, Qiang
    Feng, Chenchen
    ONCOTARGET, 2017, 8 (70) : 114736 - 114745
  • [22] Characterization of the HSD17B4 gene:: D-specific multifunctional protein 2/17β-hydroxysteroid dehydrogenase IV
    Möller, G
    Leenders, F
    van Grunsven, EG
    Dolez, V
    Qualmann, B
    Kessels, MM
    Markus, M
    Krazeisen, A
    Husen, B
    Wanders, RJA
    de Launoit, Y
    Adamski, J
    JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY, 1999, 69 (1-6): : 441 - 446
  • [23] 食管癌HSD17B4基因表达及其杂合性丢失分析
    李小东
    刘向阳
    黄晓平
    傅剑华
    胡祎
    徐昕
    蔡岩
    韩亚玲
    戎铁华
    吴旻
    詹启敏
    王明荣
    中国医学科学院学报, 2005, (03) : 270 - 273
  • [24] Comment on: Correlation between HSD17B4 expression in rat liver cancer tissues and inflammation or proliferation
    Milione, S.
    Allegorico, E.
    Altruda, C.
    EUROPEAN REVIEW FOR MEDICAL AND PHARMACOLOGICAL SCIENCES, 2018, 22 (17) : 5411 - 5412
  • [25] DNA methylation of HSD17B4 is involved in drug sensitivity of breast cancer through a metabolic shift
    Hattori, Naoko
    Arai, Nobuaki
    Yamashita, Satoshi
    Mukai, Hirofumi
    Ushijima, Toshikazu
    CANCER SCIENCE, 2021, 112 : 373 - 373
  • [26] 家兔HSD17B4基因与繁殖性能的关联性分析
    沈峻宇
    杨嵩
    陈定超
    冉强
    四川畜牧兽医, 2015, 42 (04) : 34 - 37
  • [27] A mutation in Af4 is predicted to cause cerebellar ataxia and cataracts in the robotic mouse
    Isaacs, AM
    Oliver, PL
    Jones, EL
    Jeans, A
    Potter, A
    Hovik, BH
    Nolan, PM
    Vizor, L
    Glenister, P
    Simon, AK
    Gray, IC
    Spurr, NK
    Brown, SDM
    Hunter, AJ
    Davies, KE
    JOURNAL OF NEUROSCIENCE, 2003, 23 (05): : 1631 - 1637
  • [28] PDGFRA, HSD17B4 and HMGB2 are potential therapeutic targets in polycystic ovarian syndrome and breast cancer
    Xu, Huiyu
    Han, Yong
    Lou, Jiaying
    Zhang, Hongxian
    Zhao, Yue
    Gyorffy, Balazs
    Li, Rong
    ONCOTARGET, 2017, 8 (41) : 69520 - 69526
  • [29] Boucher Neuhauser Syndrome in Twins: A Rare and Unusual Cause of Cerebellar Ataxia
    Mahajan, Surbhi
    Mehta, Sahil
    Singh, Jagdeep
    Tigari, Basavaraj
    Balaini, Neeraj
    Lal, Vivek
    MOVEMENT DISORDERS CLINICAL PRACTICE, 2023, 10 (04): : 697 - 700
  • [30] A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome
    Chen, Kui
    Yang, Ke
    Luo, Su-Shan
    Chen, Chen
    Wang, Ying
    Wang, Yi-Xuan
    Li, Da-Ke
    Yang, Yu-Jie
    Tang, Yi-Lin
    Liu, Feng-Tao
    Wang, Jian
    Wu, Jian-Jun
    Sun, Yi-Min
    BMC MEDICAL GENETICS, 2017, 18
12345