Biochemical Analysis of a Patient with Fumarate Hydratase Deficiency

被引:0
|
作者
Berkmen, Melanie
Grocott, Olivia
Phanor, Sabrina
Fung, France
Thibert, Ronald
机构
来源
FASEB JOURNAL | 2021年 / 35卷
关键词
D O I
10.1096/fasebj.2021.35.S1.02197
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
引用
收藏
页数:1
相关论文
共 50 条
  • [31] SPECIFICITY OF FUMARATE HYDRATASE .I. FORMATION OF OXALACETATE FROM UNNATURAL(-)-TARTRATE BY FUMARATE HYDRATASE
    NAKAMURA, S
    OGATA, H
    JOURNAL OF BIOLOGICAL CHEMISTRY, 1968, 243 (03) : 528 - &
  • [32] Fumarate Hydratase and S-(2-Succinyl)-Cysteine Immunohistochemistry Shows Evidence of Fumarate Hydratase Deficiency in 2% of Uterine Leiomyosarcomas: A Cohort Study of 348 Tumors
    Chapel, David B. B.
    Sharma, Aarti
    Maccio, Livia
    Bragantini, Emma
    Zannoni, Gian Franco
    Yuan, Liping
    Quade, Bradley J. J.
    Parra-Herran, Carlos
    Nucci, Marisa R. R.
    INTERNATIONAL JOURNAL OF GYNECOLOGICAL PATHOLOGY, 2023, 42 (02) : 120 - 135
  • [33] Downregulation of SRF-FOS-JUNB pathway in fumarate hydratase deficiency and in uterine leiomyomas
    Raimundo, N.
    Vanharanta, S.
    Aaltonen, L. A.
    Hovatta, I.
    Suomalainen, A.
    ONCOGENE, 2009, 28 (09) : 1261 - 1273
  • [34] Fumarate hydratase deficiency: increased fumaric acid in amniotic fluid of two affected pregnancies
    Manning, NJ
    Olpin, SE
    Pollitt, RJ
    Downing, M
    Heeley, AF
    Young, ID
    JOURNAL OF INHERITED METABOLIC DISEASE, 2000, 23 (07) : 757 - 759
  • [35] Bioinformatics analysis and expression study of fumarate hydratase in lung cancer
    Ming, Zongjuan
    Jiang, Meihua
    Li, Wei
    Fan, Na
    Deng, Wenjing
    Zhong, Yujie
    Zhang, Yuping
    Zhang, Qiuhong
    Yang, Shuanying
    THORACIC CANCER, 2014, 5 (06) : 543 - 549
  • [36] A novel nonsense mutation in the fumarate hydratase gene in a Chinese patient with recurrent leiomyomas
    Ruan, Yiyin
    Feng, Weiwei
    Yang, Chenmin
    F&S REPORTS, 2023, 4 (04): : 410 - 415
  • [37] Leiomyomatosis developed in a patient of neurofibromatosis type 1 with fumarate hydratase gene mutation
    Otake, Eika
    Hayama, Koremasa
    Fujita, Hideki
    Shinkuma, Satoru
    Shimizu, Hiroshi
    Terui, Tadashi
    JOURNAL OF DERMATOLOGY, 2019, 46 (12): : e456 - e457
  • [38] Challenges of a tailored immunohistochemistry algorithm for uterine leiomyosarcoma: an integrated analysis of leiomyomas with bizarre nuclei and fumarate hydratase (FH) deficiency
    Alves-Vale, Catarina
    Truffaux, Nathalene
    Velasco, Valerie
    Azmani, Rihab
    Alame, Melissa
    Rebier, Flora
    Mayeur, Laetitia
    Leger, Yanick
    Hostein, Isabelle
    Soubeyran, Isabelle
    Blanchard, Larry
    Marion, Estelle
    Fontanges, Quitterie
    Le Loarer, Francois
    Averous, Gerlinde
    Genestie, Catherine
    Arnould, Laurent
    Devouassoux-Shisheboran, Mojgan
    Croce, Sabrina
    HISTOPATHOLOGY, 2025,
  • [39] Fumarate hydratase and mitochondrial predisposition to cancer
    Tomlinson, Ian
    JOURNAL OF MEDICAL GENETICS, 2010, 47 : S22 - S22
  • [40] HIF and fumarate hydratase in renal cancer
    S Sudarshan
    W M Linehan
    L Neckers
    British Journal of Cancer, 2007, 96 : 403 - 407