scholarly article | Q13442814 |
P50 | author | Taosheng Huang | Q74605870 |
Dmitry Tchapyjnikov | Q80767981 | ||
P2093 | author name string | Marie T McDonald | |
Laura G Reinholdt | |||
Yanyan Peng | |||
Allyn McConkie-Rosell | |||
Elizabeth A Sellars | |||
Jesse Slone | |||
Adam Chamberlin | |||
Belinda Harris | |||
Julie Kaylor | |||
Monica Lemmon | |||
Laura A Gonzalez-Krellwitz | |||
Mays Antonine El-Dairi | |||
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The 20 years of PROSITE | Q24650692 | ||
Functional reconstitution of mitochondrial Fe/S cluster synthesis on Isu1 reveals the involvement of ferredoxin | Q27695962 | ||
Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss | Q28118528 | ||
Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia | Q28250989 | ||
Biogenesis of cytosolic and nuclear iron-sulfur proteins and their role in genome stability | Q28255405 | ||
Steroidogenic enzymes: structure, function, and role in regulation of steroid hormone biosynthesis | Q28256698 | ||
Mitochondrial cytochrome P-450scc. Mechanism of electron transport by adrenodoxin | Q28273290 | ||
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion | Q28275699 | ||
Ferredoxin reductase affects p53-dependent, 5-fluorouracil-induced apoptosis in colorectal cancer cells | Q28361124 | ||
Assembly and iron-binding properties of human frataxin, the protein deficient in Friedreich ataxia | Q28646412 | ||
A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: a dawn for evolutionary medicine | Q29547303 | ||
Cerebellar pathology in Friedreich's ataxia: atrophied dentate nuclei with normal iron content. | Q30426640 | ||
Impaired ATP synthase assembly associated with a mutation in the human ATP synthase subunit 6 gene | Q31561021 | ||
Brain iron chelation by deferiprone in a phase 2 randomised double-blinded placebo controlled clinical trial in Parkinson's disease. | Q33684033 | ||
Combined therapy with idebenone and deferiprone in patients with Friedreich's ataxia. | Q33701891 | ||
Targeting chelatable iron as a therapeutic modality in Parkinson's disease | Q33768106 | ||
Humans possess two mitochondrial ferredoxins, Fdx1 and Fdx2, with distinct roles in steroidogenesis, heme, and Fe/S cluster biosynthesis | Q33977876 | ||
Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation | Q34152888 | ||
A pilot trial of deferiprone for neurodegeneration with brain iron accumulation | Q35528710 | ||
Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders | Q35793513 | ||
Both human ferredoxins 1 and 2 and ferredoxin reductase are important for iron-sulfur cluster biogenesis | Q36538094 | ||
Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes | Q37463296 | ||
Human Mitochondrial Ferredoxin 1 (FDX1) and Ferredoxin 2 (FDX2) Both Bind Cysteine Desulfurase and Donate Electrons for Iron-Sulfur Cluster Biosynthesis. | Q37607678 | ||
Cytochrome P450 enzymes in drug metabolism: regulation of gene expression, enzyme activities, and impact of genetic variation | Q38075335 | ||
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The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency | Q43129154 | ||
Individual dopaminergic neurons show raised iron levels in Parkinson disease. | Q45305197 | ||
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy | Q46282814 | ||
Loss of SLC25A46 causes neurodegeneration by affecting mitochondrial dynamics and energy production in mice. | Q47249910 | ||
FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases | Q47719193 | ||
Clinical Experience With Deferiprone Treatment for Friedreich Ataxia | Q47786184 | ||
A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies | Q48836050 | ||
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P433 | issue | 12 | |
P921 | main subject | neurodegeneration | Q1755122 |
P304 | page(s) | 1211-1222 | |
P577 | publication date | 2018-09-25 | |
P1433 | published in | Journal of Human Genetics | Q6295302 |
P1476 | title | Biallelic mutations in FDXR cause neurodegeneration associated with inflammation | |
P478 | volume | 63 |