Varaico: Literature-Extracted Genetic Variants

Gene:FOXRED1
Variant:p.R352W
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FOXRED1

NM_017547.4:p.R352W

Associated Papers

Biallelic FOXRED1 mutations cause infantile mitochondrial encephalopathy with complex I disassembly and basal ganglia degeneration.

Pan C et al.

Mitochondrion, 2025

Genetic Spectrum of Congenital Anomalies of the Kidney and Urinary Tract in Chinese Newborn Genome Project.

Huang Z et al.

Kidney International Reports, 2023

38025242 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_S2

Genetic aberration analysis of mitochondrial respiratory complex I implications in the development of neurological disorders and their clinical significance.

Dar GM et al.

Ageing Research Reviews, 2023

Clinical and Genetic Characteristics of Mitochondrial Encephalopathy Due to FOXRED1 Mutations: Two Chinese Case Reports and a Review of the Literature.

Hu C et al.

Frontiers in Neurology, 2021

Clinical features and underlying genetic causes in neonatal encephalopathy: A large cohort study.

Yang L et al.

Clinical Genetics, 2020

Identification and Characterization of New Variants in FOXRED1 Gene Expands the Clinical Spectrum Associated with Mitochondrial Complex I Deficiency.

Barbosa-Gouveia S et al.

Journal of Clinical Medicine, 2019

Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex 1 deficiency.

Apatean D et al.

Molecular Genetics and Metabolism Reports, 2019

Mitochondrial Genetic Disorders: Cell Signaling and Pharmacological Therapies.

Djouadi F et al.

Cells, 2019

Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex I deficiency.

Apatean D et al.

Molecular Genetics and Metabolism Reports, 2019

A Mutation in the Flavin Adenine Dinucleotide-Dependent Oxidoreductase FOXRED1 Results in Cell-Type-Specific Assembly Defects in Oxidative Phosphorylation Complexes I and II.

Zurita Rendón O et al.

Molecular and Cellular Biology, 2016

Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.

Gal M et al.

Bmc Medical Genomics, 2016

27175728 (PubMed )
Supplement: 12920_2016_184_MOESM1_ESM.xls › S1

Dynamics of Human Mitochondrial Complex I Assembly: Implications for Neurodegenerative Diseases.

Giachin G et al.

Frontiers in Molecular Biosciences, 2016

Characterization of mitochondrial FOXRED1 in the assembly of respiratory chain complex I.

Formosa LE et al.

Human Molecular Genetics, 2015

A structural model for FOXRED1, an FAD-dependent oxidoreductase necessary for NADH: Ubiquinone oxidoreductase (complex I) assembly.

Lemire BD

Mitochondrion, 2015

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy.

Fassone E et al.

Human Molecular Genetics, 2010

Evolution of FOXRED1, an FAD-dependent oxidoreductase necessary for NADH:ubiquinone oxidoreductase (Complex I) assembly.

Lemire BD

Biochimica Et Biophysica Acta, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."