Literature DB >> 15136693

HFE mutations are not strongly associated with sporadic ALS.

A A Yen1, E P Simpson, J S Henkel, D R Beers, S H Appel.   

Abstract

The presence of oxidative damage and increased iron deposition in CNS tissues of ALS patients prompted the authors to examine the prevalence of two common HFE gene mutations linked to iron accumulation and consequent oxidative stress. The prevalence of the C282Y and H63D mutations was nearly identical in 51 ALS patients and 47 normal control subjects. The presence of either mutation did not significantly affect the age at onset or rate of progression in ALS.

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Year:  2004        PMID: 15136693     DOI: 10.1212/01.wnl.0000123114.04644.cc

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


  8 in total

1.  HFE H63D polymorphism is increased in patients with amyotrophic lateral sclerosis of Italian origin.

Authors:  G Restagno; F Lombardo; P Ghiglione; A Calvo; E Cocco; L Sbaiz; R Mutani; A Chiò
Journal:  J Neurol Neurosurg Psychiatry       Date:  2007-03       Impact factor: 10.154

Review 2.  Clinical genetics of amyotrophic lateral sclerosis: what do we really know?

Authors:  Peter M Andersen; Ammar Al-Chalabi
Journal:  Nat Rev Neurol       Date:  2011-10-11       Impact factor: 42.937

3.  Mutant HFE H63D protein is associated with prolonged endoplasmic reticulum stress and increased neuronal vulnerability.

Authors:  Yiting Liu; Sang Y Lee; Elizabeth Neely; Wint Nandar; Mthabisi Moyo; Zachary Simmons; James R Connor
Journal:  J Biol Chem       Date:  2011-02-24       Impact factor: 5.157

4.  Modification of the association between lead exposure and amyotrophic lateral sclerosis by iron and oxidative stress related gene polymorphisms.

Authors:  Ki-Do Eum; Ryan M Seals; Kathryn M Taylor; Matthew Grespin; David M Umbach; Howard Hu; Dale P Sandler; Freya Kamel; Marc G Weisskopf
Journal:  Amyotroph Lateral Scler Frontotemporal Degener       Date:  2014-10-08       Impact factor: 4.092

5.  Brain iron dysregulation and the risk of ageing white matter lesions.

Authors:  Ola H Gebril; J E Simpson; Janine Kirby; Carol Brayne; Paul G Ince
Journal:  Neuromolecular Med       Date:  2011-10-07       Impact factor: 3.843

Review 6.  Mutations in the HFE gene and sporadic amyotrophic lateral sclerosis risk: a meta-analysis of observational studies.

Authors:  M Li; L Wang; W Wang; X L Qi; Z Y Tang
Journal:  Braz J Med Biol Res       Date:  2014-02-18       Impact factor: 2.590

7.  Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis.

Authors:  Julien Couthouis; Alya R Raphael; Roxana Daneshjou; Aaron D Gitler
Journal:  PLoS Genet       Date:  2014-10-09       Impact factor: 5.917

8.  Iron Status May Not Affect Amyotrophic Lateral Sclerosis: A Mendelian Randomization Study.

Authors:  Jiahao Cai; Xiong Chen; Hongxuan Wang; Zixin Wei; Mei Li; Xiaoming Rong; Xiangpen Li; Ying Peng
Journal:  Front Genet       Date:  2021-03-04       Impact factor: 4.599

  8 in total

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