Literature DB >> 15159502

L-2-hydroxyglutaric aciduria and brain malignant tumors: a predisposing condition?

I Moroni1, M Bugiani, L D'Incerti, C Maccagnano, M Rimoldi, L Bissola, B Pollo, G Finocchiaro, G Uziel.   

Abstract

L-2-hydroxyglutaric aciduria is a rare metabolic encephalopathy displaying a subcortical leukoencephalopathy on MRI. Diagnosis rests on detection of an abnormal accumulation of L-2-hydroxyglutaric acid in body fluids. The authors report on four patients who developed a malignant brain tumor during the course of the disease. This association points to a possible role of L-2-hydroxyglutaric aciduria in predisposing to brain tumorigenesis.

Entities:  

Mesh：

Substances：

Year:  2004        PMID： 15159502     DOI： 10.1212/01.wnl.0000125335.21381.87

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  47 in total

Review 1.  Cellular metabolism and disease: what do metabolic outliers teach us?

Authors:  Ralph J DeBerardinis; Craig B Thompson
Journal:  Cell       Date:  2012-03-16       Impact factor: 41.582

2.  Clinical, genetic and magnetic resonance findings in an Italian patient affected by L-2-hydroxyglutaric aciduria.

Authors:  Rosalucia Mazzei; Carmine Ungaro; Girolamo Garreffa; Francesca Luisa Conforti; Antonella Mollo; Teresa Sprovieri; Pasquale Servillo; Vincenzo Blasi; Olivier Gallo; Antonio Cerasa; Pier Luigi Lanza; Aldo Quattrone
Journal:  Neurol Sci       Date:  2010-09-22       Impact factor: 3.307

Review 3.  The redox basis of epigenetic modifications: from mechanisms to functional consequences.

Authors:  Anthony R Cyr; Frederick E Domann
Journal:  Antioxid Redox Signal       Date:  2011-02-05       Impact factor: 8.401

4.  Biochemical control systems for small molecule damage in plants.

Authors:  M Hüdig; J Schmitz; M K M Engqvist; V G Maurino
Journal:  Plant Signal Behav       Date:  2018-06-26

Review 5.  Current concepts in organic acidurias: understanding intra- and extracerebral disease manifestation.

Authors:  Stefan Kölker; Peter Burgard; Sven W Sauer; Jürgen G Okun
Journal:  J Inherit Metab Dis       Date:  2013-03-20       Impact factor: 4.982

6.  L-2-Hydroxyglutarate: an epigenetic modifier and putative oncometabolite in renal cancer.

Authors:  Eun-Hee Shim; Carolina B Livi; Dinesh Rakheja; Jubilee Tan; Daniel Benson; Vishwas Parekh; Eun-Young Kho; Arindam P Ghosh; Richard Kirkman; Sadanan Velu; Shilpa Dutta; Balachandra Chenna; Shane L Rea; Robert J Mishur; Qiuhua Li; Teresa L Johnson-Pais; Lining Guo; Sejong Bae; Shi Wei; Karen Block; Sunil Sudarshan
Journal:  Cancer Discov       Date:  2014-09-02       Impact factor: 39.397

Review 7.  Cerebral neoplasms in L-2 hydroxyglutaric aciduria: 3 new cases and meta-analysis of literature data.

Authors:  Z Patay; J C Mills; U Löbel; A Lambert; A Sablauer; D W Ellison
Journal:  AJNR Am J Neuroradiol       Date:  2012-01-12       Impact factor: 3.825

8.  L2hgdh Deficiency Accumulates l-2-Hydroxyglutarate with Progressive Leukoencephalopathy and Neurodegeneration.

Authors:  Shenghong Ma; Renqiang Sun; Bowen Jiang; Jun Gao; Wanglong Deng; Peng Liu; Ruoyu He; Jing Cui; Minbiao Ji; Wei Yi; Pengyuan Yang; Xiaohui Wu; Yue Xiong; Zilong Qiu; Dan Ye; Kun-Liang Guan
Journal:  Mol Cell Biol       Date:  2017-03-31       Impact factor: 4.272

9.  L-2-hydroxyglutaric aciduria: clinical and molecular study in three Tunisian families. Identification of a new mutation and inter-familial phenotype variability.

Authors:  A Larnaout; R Amouri; M Kefi; F Hentati
Journal:  J Inherit Metab Dis       Date:  2008-09-13       Impact factor: 4.982

Review 10.  IDH mutations in human glioma.

Authors:  Won Kim; Linda M Liau
Journal:  Neurosurg Clin N Am       Date:  2012-05-31       Impact factor: 2.509
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.