Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.

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Cytosolic HSC20 integrates de novo iron-sulfur cluster biogenesis with the CIAO1-mediated transfer to recipients.

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Q47224898-3D1042E6-4387-431A-86F0-C0B27F20F1D8

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Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.

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Biallelic mutations in the fer ...... ndriopathy with optic atrophy.

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Biallelic mutations in the fer ...... ndriopathy with optic atrophy.

@en

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Biallelic mutations in the fer ...... ndriopathy with optic atrophy.

@en

P1476

Biallelic mutations in the fer ...... ndriopathy with optic atrophy.

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Adam Chamberlin

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Alice Basinger

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Andrea M Lewis

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Baoheng Gui

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Belinda Harris

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Brenda Alvarez-Leon

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C Alexander Valencia

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Deepali N Shinde

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Elizabeth Sellars

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Fernando Scaglia

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P2860

Targeting of a human iron-sulfur cluster assembly enzyme, nifs, to different subcellular compartments is regulated through alternative AUG utilization

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Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome

Prediction of water and metal binding sites and their affinities by using the Fold-X force field.

The structure of adrenodoxin reductase of mitochondrial P450 systems: electron transfer for steroid biosynthesis

Adrenodoxin reductase-adrenodoxin complex structure suggests electron transfer path in steroid biosynthesis

Functional reconstitution of mitochondrial Fe/S cluster synthesis on Isu1 reveals the involvement of ferredoxin

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

The ferredoxin reductase gene is regulated by the p53 family and sensitizes cells to oxidative stress-induced apoptosis

Steroidogenic enzymes: structure, function, and role in regulation of steroid hormone biosynthesis

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4937-4950

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scholarly article

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10.1093/HMG/DDX377

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http://www.w3.org/2001/XMLSchema#string

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http://www.w3.org/2001/XMLSchema#string

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Katherine L Helbig

Z Powis

T Huang

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2017-12-01T00:00:00Z

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29040572

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5886230

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Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.

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P2860

P2860

Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.

description

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type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P932