Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy-Reference-Cited by-同舟云学术

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Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy

Published:2023-10 Issue:4 Volume:4 Page:100236
ISSN:2666-2477
Container-title:Human Genetics and Genomics Advances
language:en
Short-container-title:Human Genetics and Genomics Advances

Author:

Shieh Joseph T.^ORCID,Tintos-Hernandez Jesus A.,Murali Chaya N.,Penon-Portmann Monica,Flores-Mendez Marco,Santana Adrian,Bulos Joshua A.,Du Kang,Dupuis Lucie,Damseh Nadirah,Mendoza-Londoño Roberto,Berera Camilla,Lee Julieann C.,Phillips Joanna J.,Alves César A.P.F.,Dmochowski Ivan J.,Ortiz-González Xilma R.

Funder

NCI

National Institute of Neurological Disorders and Stroke

Burroughs Wellcome Fund

Robert Wood Johnson Foundation

CHOP

Chinese Academy of Medical Sciences

NSF

UCSF

Publisher

Elsevier BV

Subject

Genetics (clinical),Molecular Medicine

Reference44 articles.

1. Iron homeostasis and iron-regulated ROS in cell death, senescence and human diseases;Nakamura;Biochim. Biophys. Acta Gen. Subj.,2019

2. Importance of Iron Complexation for Fenton-Mediated Hydroxyl Radical Production at Circumneutral pH;Miller;Front. Mar. Sci.,2016

3. Iron, Ferritin, Hereditary Ferritinopathy, and Neurodegeneration;Muhoberac;Front. Neurosci.,2019

4. Ferritin: a novel mechanism for delivery of iron to the brain and other organs;Fisher;Am. J. Physiol. Cell Physiol.,2007

5. Isoforms of ferritin have a specific cellular distribution in the brain;Connor;J. Neurosci. Res.,1994

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