(Q46282814)

http://europepmc.org/abstract/PMC/5886230

26 June 2018

title

Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy (English)

1 reference

http://europepmc.org/abstract/PMC/5886230

26 June 2018

author

Katherine L Helbig

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Zoe Powis

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Taosheng Huang

42

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

author name string

Yanyan Peng

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Deepali N Shinde

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

C Alexander Valencia

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Jun-Song Mo

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Jill Rosenfeld

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Megan Truitt Cho

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Adam Chamberlin

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Zhuo Li

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Jie Liu

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Baoheng Gui

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Rachel Brockhage

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Alice Basinger

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Brenda Alvarez-Leon

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Peter Heydemann

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Pilar L Magoulas

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Andrea M Lewis

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Fernando Scaglia

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Solange Gril

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Shuk Ching Chong

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Matthew Bower

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Kristin G Monaghan

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Rebecca Willaert

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Maria-Renee Plona

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Rich Dineen

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Francisca Milan

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

George Hoganson

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Jennifer Keller-Ramey

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Belinda Harris

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Laura C Anderson

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Torrian Green

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Stacey J Sukoff Rizzo

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Julie Kaylor

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Jiani Chen

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Min-Xin Guan

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Elizabeth Sellars

37

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Steven P Sparagana

38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

James B Gibson

39

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Laura G Reinholdt

40

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Sha Tang

41

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

publication date

1 December 2017

1 reference

http://europepmc.org/abstract/PMC/5886230

26 June 2018

published in

Human Molecular Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

volume

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

issue

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

page(s)

4937-4950

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

4 June 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5886230/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Human Mitochondrial Ferredoxin 1 (FDX1) and Ferredoxin 2 (FDX2) Both Bind Cysteine Desulfurase and Donate Electrons for Iron-Sulfur Cluster Biosynthesis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886230

Mitochondrial replacement in human oocytes carrying pathogenic mitochondrial DNA mutations.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886230

Combined Treatment With Environmental Enrichment and (-)-Epigallocatechin-3-Gallate Ameliorates Learning Deficits and Hippocampal Alterations in a Mouse Model of Down Syndrome

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886230

Architecture of the Human Mitochondrial Iron-Sulfur Cluster Assembly Machinery

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886230

Cyclosporine A Treatment Abrogates Ischemia-Induced Neuronal Cell Death by Preserving Mitochondrial Integrity through Upregulation of the Parkinson's Disease-Associated Protein DJ-1.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886230

How should we measure proportionality on relative gene expression data?

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886230

Ferredoxin 1b (Fdx1b) Is the Essential Mitochondrial Redox Partner for Cortisol Biosynthesis in Zebrafish.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886230

The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886230

ELM 2016--data update and new functionality of the eukaryotic linear motif resource

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886230

Network Analysis Identifies Mitochondrial Regulation of Epidermal Differentiation by MPZL3 and FDXR.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886230

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

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886230

IBS: an illustrator for the presentation and visualization of biological sequences

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886230

Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886230

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

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886230

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

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886230

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886230

Molecular findings among patients referred for clinical whole-exome sequencing

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886230

A deafness-associated tRNAHis mutation alters the mitochondrial function, ROS production and membrane potential.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886230

Mammalian Fe-S cluster biogenesis and its implication in disease.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886230

Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886230

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

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886230

Both human ferredoxins 1 and 2 and ferredoxin reductase are important for iron-sulfur cluster biogenesis

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886230

Humans possess two mitochondrial ferredoxins, Fdx1 and Fdx2, with distinct roles in steroidogenesis, heme, and Fe/S cluster biosynthesis

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886230

Iron-binding activity of human iron-sulfur cluster assembly protein hIscA1

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886230

Human ISD11 is essential for both iron-sulfur cluster assembly and maintenance of normal cellular iron homeostasis

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886230

Heterozygous mutation of Opa1 in Drosophila shortens lifespan mediated through increased reactive oxygen species production.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886230

Interplay of IscA and IscU in biogenesis of iron-sulfur clusters.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886230

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

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886230

Structure, function, and formation of biological iron-sulfur clusters

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886230

Protein structure prediction and analysis using the Robetta server.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886230

The Molecule Pages database

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886230

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

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886230

Ferredoxin reductase affects p53-dependent, 5-fluorouracil-induced apoptosis in colorectal cancer cells

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886230

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

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886230

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

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886230

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

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886230

Mitochondrial cytochrome P-450scc. Mechanism of electron transport by adrenodoxin

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886230

Human adrenodoxin reductase: two mRNAs encoded by a single gene on chromosome 17cen----q25 are expressed in steroidogenic tissues

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886230

Site-specific mutations in human ferredoxin that affect binding to ferredoxin reductase and cytochrome P450scc

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886230

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886230

Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886230

Molecular recognition and electron transfer in mitochondrial steroid hydroxylase systems

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886230

Rapid quantification of adult and developing mouse spatial vision using a virtual optomotor system

15 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29040572

12 December 2020

inferred from PubMed ID database lookup

Interactions between ferredoxin-NADP reductase and ferredoxin at different reduction levels of the two proteins

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29040572

12 December 2020

inferred from PubMed ID database lookup

Levels of DNA and RNA in the carcinomatous tissue of the collum uteri before and after application of Cytembena (author's transl)

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29040572

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1093/HMG/DDX377

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29040572%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

PubMed publication ID

29040572

1 reference