Sedaghatian-type spondylometaphyseal dysplasia: Whole exome sequencing in neonatal dry blood spots enabled identification of a novel variant in GPX4-Reference-Cited by-同舟云学术

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Sedaghatian-type spondylometaphyseal dysplasia: Whole exome sequencing in neonatal dry blood spots enabled identification of a novel variant in GPX4

Published:2020-11 Issue:11 Volume:63 Page:104020
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Fedida Ayalla,Ben Harouch Shani,Kalfon Limor,Abunassar Zahi,Omari Hussam,Mandel Hanna,Falik-Zaccai Tzipora C.

Funder

Teva Pharmaceutical industries Ltd

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference22 articles.

1. Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy;Agamy;Am. J. Hum. Genet.,2010

2. Simplified gyral pattern with cerebellar hypoplasia in Sedaghatian type spondylometaphyseal dysplasia: a clinical report and review of the literature;Aygun;Am. J. Med. Genet.,2012

3. The CoQ oxidoreductase FSP1 acts parallel to GPX4 to inhibit ferroptosis;Bersuker;Nature,2019

4. Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases;Bick;J. Med. Genet.,2019

5. Glutathione peroxidases;Brigelius-Flohé;Biochim. Biophys. Acta,2013

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2. Monogenic Disorders of ROS Production and the Primary Anti-Oxidative Defense;Biomolecules;2024-02-09

3. Cardiolipin drives the catalytic activity of GPX4 on membranes: Insights from the R152H mutant;Redox Biology;2023-08

4. Selenoproteins in brain development and function;Free Radical Biology and Medicine;2022-09

5. A white paper on Phospholipid Hydroperoxide Glutathione Peroxidase (GPx4) forty years later;Free Radical Biology and Medicine;2022-08

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