(Q24300457)

English

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

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scholarly article

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

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molecular chaperones

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FAD dependent oxidoreductase domain containing 1

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GOA release 2020-03-11

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based on heuristic

inferred from title

Jan-Willem Taanman

3

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Michael I Sadowski

object named as

Michael I Sadowski

5

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object named as

Waseem Qasim

7

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12

object named as

Shamima Rahman

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9

object named as

Sarah E Calvo

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10

object named as

Vamsi K Mootha

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Maria Bitner-Glindzicz

11

object named as

Maria Bitner-Glindzicz

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Alistair T Pagnamenta

4

object named as

Alistair T Pagnamenta

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8

object named as

Paul Rutland

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author name string

Elisa Fassone

1

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Andrew J Duncan

2

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Tatjana Holand

6

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language of work or name

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publication date

15 December 2010

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Human Molecular Genetics

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19

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24

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4837-47

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describes a project that uses

1 reference

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4560042/fullTextXML

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Exome sequencing identifies the cause of a mendelian disorder

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19 March 2017

Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease

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19 March 2017

Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease

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19 March 2017

A mitochondrial protein compendium elucidates complex I disease biology

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19 March 2017

C6ORF66 is an assembly factor of mitochondrial complex I

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Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease

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19 March 2017

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A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy

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Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

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The architecture of respiratory complex I

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19 March 2017

The SWISS-PROT protein knowledgebase and its supplement TrEMBL in 2003

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19 March 2017

Protein secondary structure prediction based on position-specific scoring matrices

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19 March 2017

Comparative protein modelling by satisfaction of spatial restraints

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19 March 2017

NDUFA2 complex I mutation leads to Leigh disease

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19 March 2017

Computational method to predict mitochondrially imported proteins and their targeting sequences

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7 April 2017

Isolation of intracellular membranes by means of sodium carbonate treatment: application to endoplasmic reticulum

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7 April 2017

A graph-theory algorithm for rapid protein side-chain prediction

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7 April 2017

Mitochondrial protein import: from proteomics to functional mechanisms

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27 September 2017

Diagnosis and therapy in neuromuscular disorders: diagnosis and new treatments in mitochondrial diseases

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27 September 2017

Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome

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27 September 2017

Assembly of mitochondrial complex I and defects in disease

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27 September 2017

Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration

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27 September 2017

Bovine complex I is a complex of 45 different subunits.

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27 September 2017

Assembly of mitochondrial cytochrome c-oxidase, a complicated and highly regulated cellular process

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27 September 2017

Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders.

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27 September 2017

Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder

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27 September 2017

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

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Lentiviral vectors for T-cell suicide gene therapy: preservation of T-cell effector function after cytokine-mediated transduction

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High-level transduction and gene expression in hematopoietic repopulating cells using a human immunodeficiency [correction of imunodeficiency] virus type 1-based lentiviral vector containing an internal spleen focus forming virus promoter

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ414

21 January 2018

Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ414

21 January 2018

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1 reference

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12 December 2020

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1 reference

https://pubmed.ncbi.nlm.nih.gov/20858599

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1093/HMG/DDQ414

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PubMed publication ID

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ResearchGate publication ID

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