HFE c.278G>C ;(p.G93A)

Variant ID: 6-26091270-G-C

NM_000410.3(HFE):c.278G>C;(p.G93A)

This variant was identified in 18 publications

View GRCh38 version.




Publications:


Recent progress of the genetics of amyotrophic lateral sclerosis and challenges of gene therapy.

Frontiers In Neuroscience
Wang, Hui H; Guan, LiPing L; Deng, Min M
Publication Date: 2023

Variant appearance in text: HFE: G93A
PubMed Link: 37250416
Variant Present in the following documents:
  • Main text
  • fnins-17-1170996.pdf
View BVdb publication page



Treatment with Herbal Formula Extract in the hSOD1G93A Mouse Model Attenuates Muscle and Spinal Cord Dysfunction via Anti-Inflammation.

Mediators Of Inflammation
Yang, Eun Jin EJ; Lee, Sun Hwa SH; Cai, Mudan M
Publication Date: 2022

Variant appearance in text: HFE: G93A
PubMed Link: 35832305
Variant Present in the following documents:
  • MI2022-4754732.pdf
View BVdb publication page



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

Frontiers In Genetics
Cai, Jiahao J; Chen, Xiong X; Wang, Hongxuan H; Wei, Zixin Z; Li, Mei M; Rong, Xiaoming X; Li, Xiangpen X; Peng, Ying Y
Publication Date: 2021

Variant appearance in text: HFE: G93A
PubMed Link: 33747043
Variant Present in the following documents:
  • fgene-12-617245.pdf
View BVdb publication page



Copper Dyshomeostasis in Neurodegenerative Diseases-Therapeutic Implications.

International Journal Of Molecular Sciences
Gromadzka, Grażyna G; Tarnacka, Beata B; Flaga, Anna A; Adamczyk, Agata A
Publication Date: 2020-12-04

Variant appearance in text: HFE: G93A
PubMed Link: 33291628
Variant Present in the following documents:
  • ijms-21-09259.pdf
View BVdb publication page



Abnormal Serum Iron-Status Indicator Changes in Amyotrophic Lateral Sclerosis (ALS) Patients: A Meta-Analysis.

Frontiers In Neurology
Wang, Lan L; Li, Chunyu C; Chen, Xueping X; Li, Shuying S; Shang, Huifang H
Publication Date: 2020

Variant appearance in text: HFE: G93A
PubMed Link: 32508736
Variant Present in the following documents:
  • fneur-11-00380.pdf
View BVdb publication page



Iron Metabolism of the Skeletal Muscle and Neurodegeneration.

Frontiers In Neuroscience
Halon-Golabek, Malgorzata M; Borkowska, Andzelika A; Herman-Antosiewicz, Anna A; Antosiewicz, Jedrzej J
Publication Date: 2019

Variant appearance in text: HFE: G93A
PubMed Link: 30949015
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Relevancy of Data Regarding the Metabolism of Iron to Our Understanding of Deregulated Mechanisms in ALS; Hypotheses and Pitfalls.

Frontiers In Neuroscience
Petillon, Camille C; Hergesheimer, Rudolf R; Puy, Hervé H; Corcia, Philippe P; Vourc'h, Patrick P; Andres, Christian C; Karim, Zoubida Z; Blasco, Hélène H
Publication Date: 2018

Variant appearance in text: HFE: G93A
PubMed Link: 30697143
Variant Present in the following documents:
  • Main text
  • fnins-12-01031.pdf
View BVdb publication page



Hepcidin, an emerging and important player in brain iron homeostasis.

Journal Of Translational Medicine
Vela, Driton D
Publication Date: 2018-02-07

Variant appearance in text: HFE: G93A
PubMed Link: 29415739
Variant Present in the following documents:
  • 12967_2018_Article_1399.pdf
View BVdb publication page



Using induced pluripotent stem cells derived neurons to model brain diseases.

Neural Regeneration Research
McKinney, Cindy E CE
Publication Date: 2017-07

Variant appearance in text: HFE: G93A
PubMed Link: 28852383
Variant Present in the following documents:
  • Main text
  • NRR-12-1062.pdf
View BVdb publication page



An analysis of disease-gene relationship from Medline abstracts by DigSee.

Scientific Reports
Kim, Jeongkyun J; Kim, Jung-Jae JJ; Lee, Hyunju H
Publication Date: 2017-01-05

Variant appearance in text: HFE: G93A
PubMed Link: 28054646
Variant Present in the following documents:
  • srep40154-s14.xls, sheet 2
View BVdb publication page



A(a)LS: Ammonia-induced amyotrophic lateral sclerosis.

F1000Research
Parekh, Bhavin B
Publication Date: 2015

Variant appearance in text: HFE: G93A
PubMed Link: 27785351
Variant Present in the following documents:
  • Main text
  • f1000research-4-6824.pdf
View BVdb publication page



Statins accelerate disease progression and shorten survival in SOD1(G93A) mice.

Muscle & Nerve
Su, Xiaowei W XW; Nandar, Wint W; Neely, Elizabeth B EB; Simmons, Zachary Z; Connor, James R JR
Publication Date: 2016-08

Variant appearance in text: HFE: G93A
PubMed Link: 26799243
Variant Present in the following documents:
  • Main text
View BVdb publication page



HFE p.H63D polymorphism does not influence ALS phenotype and survival.

Neurobiology Of Aging
Chiò, Adriano A; Mora, Gabriele G; Sabatelli, Mario M; Caponnetto, Claudia C; Lunetta, Christian C; Traynor, Bryan J BJ; Johnson, Janel O JO; Nalls, Mike A MA; Calvo, Andrea A; Moglia, Cristina C; Borghero, Giuseppe G; Monsurrò, Maria Rosaria MR; La Bella, Vincenzo V; Volanti, Paolo P; Simone, Isabella I; Salvi, Fabrizio F; Logullo, Francesco O FO; Nilo, Riva R; Giannini, Fabio F; Mandrioli, Jessica J; Tanel, Raffaella R; Murru, Maria Rita MR; Mandich, Paola P; Zollino, Marcella M; Conforti, Francesca L FL; Penco, Silvana S; , ; , ; Brunetti, Maura M; Barberis, Marco M; Restagno, Gabriella G
Publication Date: 2015-10

Variant appearance in text: HFE: G93A
PubMed Link: 26174855
Variant Present in the following documents:
  • Main text
View BVdb publication page



Iron metabolism disturbance in a French cohort of ALS patients.

Biomed Research International
Veyrat-Durebex, Charlotte C; Corcia, Philippe P; Mucha, Aleksandra A; Benzimra, Simon S; Mallet, Cindy C; Gendrot, Chantal C; Moreau, Caroline C; Devos, David D; Piver, Eric E; Pagès, Jean-Christophe JC; Maillot, François F; Andres, Christian R CR; Vourc'h, Patrick P; Blasco, Hélène H
Publication Date: 2014

Variant appearance in text: HFE: G93A
PubMed Link: 25101285
Variant Present in the following documents:
  • Main text
  • BMRI2014-485723.pdf
View BVdb publication page



The potential for transition metal-mediated neurodegeneration in amyotrophic lateral sclerosis.

Frontiers In Aging Neuroscience
Lovejoy, David B DB; Guillemin, Gilles J GJ
Publication Date: 2014

Variant appearance in text: HFE: G93A
PubMed Link: 25100994
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics of amyotrophic lateral sclerosis: an update.

Molecular Neurodegeneration
Chen, Sheng S; Sayana, Pavani P; Zhang, Xiaojie X; Le, Weidong W
Publication Date: 2013-08-13

Variant appearance in text: HFE: G93A
PubMed Link: 23941283
Variant Present in the following documents:
  • Main text
View BVdb publication page



Iron accumulation in deep cortical layers accounts for MRI signal abnormalities in ALS: correlating 7 tesla MRI and pathology.

Plos One
Kwan, Justin Y JY; Jeong, Suh Young SY; Van Gelderen, Peter P; Deng, Han-Xiang HX; Quezado, Martha M MM; Danielian, Laura E LE; Butman, John A JA; Chen, Lingye L; Bayat, Elham E; Russell, James J; Siddique, Teepu T; Duyn, Jeff H JH; Rouault, Tracey A TA; Floeter, Mary Kay MK
Publication Date: 2012

Variant appearance in text: HFE: G93A
PubMed Link: 22529995
Variant Present in the following documents:
  • Main text
  • pone.0035241.pdf
View BVdb publication page



Serum ferritin and metal levels as risk factors for amyotrophic lateral sclerosis.

The Open Neurology Journal
Qureshi, Muddasir M; Brown, Robert H RH; Rogers, Jack T JT; Cudkowicz, Merit E ME
Publication Date: 2008-09-12

Variant appearance in text: HFE: G93A
PubMed Link: 19452011
Variant Present in the following documents:
  • TONEUJ-2-51.pdf
View BVdb publication page