(Q37218530)

19 August 2017

0 references

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype (English)

1 reference

19 August 2017

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27374774%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Alison Compton

2

1 reference

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10 June 2020

Luke E Formosa

3

1 reference

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10 June 2020

Katrien Stouffs

8

1 reference

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10 June 2020

Peter Diakumis

9

1 reference

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10 June 2020

Elżbieta Ciara

10

1 reference

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10 June 2020

David Cassiman

11

1 reference

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10 June 2020

Rafał Płoski

19

1 reference

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10 June 2020

Dariusz Rokicki

20

1 reference

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10 June 2020

Ewa Pronicka

21

1 reference

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10 June 2020

Johannes A Mayr

25

1 reference

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10 June 2020

Holger Prokisch

27

1 reference

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10 June 2020

Michael T Ryan

29

1 reference

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10 June 2020

David Thorburn

30

1 reference

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10 June 2020

Robert William Taylor

31

object named as

Robert W Taylor

1 reference

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10 June 2020

Melanie Bahlo

24

0 references

Tobias B Haack

6

object named as

Tobias B Haack

1 reference

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10 June 2020

author name string

Valentina Strecker

4

1 reference

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10 June 2020

Monika Oláhová

5

1 reference

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10 June 2020

Joél Smet

7

1 reference

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10 June 2020

Nadine Romain

12

1 reference

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10 June 2020

John W Yarham

13

1 reference

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10 June 2020

Langping He

14

1 reference

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10 June 2020

Boel De Paepe

15

1 reference

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10 June 2020

Arnaud V Vanlander

16

1 reference

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10 June 2020

Sara Seneca

17

1 reference

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10 June 2020

René G Feichtinger

18

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10 June 2020

Ronald G Haller

22

1 reference

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10 June 2020

Johan L K Van Hove

23

1 reference

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10 June 2020

Rudy Van Coster

26

1 reference

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10 June 2020

Ilka Wittig

28

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10 June 2020

language of work or name

English

0 references

publication date

29 June 2016

1 reference

American Journal of Human Genetics

19 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27374774%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

volume

99

1 reference

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10 June 2020

issue

1

1 reference

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10 June 2020

page(s)

217-227

1 reference

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The Endoplasmic Reticulum Chaperone Calnexin Is a NADPH Oxidase NOX4 Interacting Protein

10 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005451

LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005451

MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005451

Mutations causing mitochondrial disease: What is new and what challenges remain?

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005451

COA6 is a mitochondrial complex IV assembly factor critical for biogenesis of mtDNA-encoded COX2

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005451

The Phyre2 web portal for protein modeling, prediction and analysis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005451

Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005451

Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005451

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005451

The I-TASSER Suite: protein structure and function prediction.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005451

A general approach for haplotype phasing across the full spectrum of relatedness

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005451

RaptorX server: a resource for template-based protein structure modeling.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005451

TIMMDC1/C3orf1 functions as a membrane-embedded mitochondrial complex I assembly factor through association with the MCIA complex

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005451

Assembly factors for the membrane arm of human complex I.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005451

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005451

Complex I deficiency: clinical features, biochemistry and molecular genetics

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005451

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005451

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005451

Understanding mitochondrial complex I assembly in health and disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005451

Global quantification of mammalian gene expression control

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005451

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005451

Assembly factors of human mitochondrial complex I and their defects in disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005451

A method and server for predicting damaging missense mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005451

MaxQuant enables high peptide identification rates, individualized p.p.b.-range mass accuracies and proteome-wide protein quantification

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005451

A mitochondrial protein compendium elucidates complex I disease biology

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005451

Biochemical assays of respiratory chain complex activity

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005451

Analysis of the assembly profiles for mitochondrial- and nuclear-DNA-encoded subunits into complex I

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005451

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005451

Mitochondrial complex I: structure, function and pathology

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005451

SIFT: Predicting amino acid changes that affect protein function

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005451

Helix packing in polytopic membrane proteins: role of glycine in transmembrane helix association

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005451

Characterisation of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IV

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005451

Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005451

Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2).

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005451

MutationTaster2: mutation prediction for the deep-sequencing age.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005451

Does p.Q247X in TRIM63 cause human hypertrophic cardiomyopathy?

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005451

Complexome profiling identifies TMEM126B as a component of the mitochondrial complex I assembly complex.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005451

Clinical and molecular findings in children with complex I deficiency

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005451

10.1016/J.AJHG.2016.05.021

3 September 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27374774%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27374774%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

1 reference