(Q34280234)

English

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22683713%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22683713%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

Serine active site containing 1

1 reference

GOA release 2020-03-11

gene trafficking

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

Lisenka Vissers

4

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22683713%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

5

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22683713%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

8

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22683713%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

Richard J Rodenburg

11

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22683713%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

Joachim M Gerhold

15

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22683713%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

16

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22683713%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

21

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22683713%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

Christian Gilissen

26

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22683713%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

Hans van Bokhoven

27

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Europe PubMed Central

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4 February 2020

Joris A Veltman

28

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4 February 2020

Johannes N Spelbrink

31

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4 February 2020

Janneke H M Schuurs-Hoeijmakers

6

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Janneke H M Schuurs-Hoeijmakers

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4 February 2020

Arjan P M de Brouwer

34

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Arjan P M de Brouwer

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4 February 2020

Peter M van Hasselt

17

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Peter M van Hasselt

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4 February 2020

30

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Dirk J Lefeber

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4 February 2020

object named as

Karin Naess

23

0 references

Anne Grünewald

object named as

Anne Grünewald

13

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Frédéric M Vaz

object named as

Frédéric M Vaz

2

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Christine Klein

object named as

Christine Klein

14

0 references

32

object named as

Ron A Wevers

1 reference

Europe PubMed Central

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4 February 2020

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Saskia B Wortmann

1

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4 February 2020

Thatjana Gardeitchik

3

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Europe PubMed Central

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4 February 2020

Wim Kulik

7

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Europe PubMed Central

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4 February 2020

Christin Christin

9

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Europe PubMed Central

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4 February 2020

Leo A J Kluijtmans

10

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4 February 2020

Leo G J Nijtmans

12

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Europe PubMed Central

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4 February 2020

Magdalena Harakalova

18

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Europe PubMed Central

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4 February 2020

Wigard Kloosterman

19

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Europe PubMed Central

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4 February 2020

Ivo Barić

20

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Europe PubMed Central

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4 February 2020

Sema Kalkan Ucar

22

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4 February 2020

Kapil K Singhal

24

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4 February 2020

Zita Krumina

25

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4 February 2020

Jan A M Smeitink

29

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4 February 2020

Eva Morava

33

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4 February 2020

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publication date

10 June 2012

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4 February 2020

Nature Genetics

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4 February 2020

44

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Europe PubMed Central

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4 February 2020

7

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Europe PubMed Central

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4 February 2020

797-802

1 reference

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4 February 2020

De novo biosynthesis of the late endosome lipid, bis(monoacylglycero)phosphate

1 reference

https://api.crossref.org/works/10.1038%2FNG.2325

21 January 2018

The biosynthesis and functional role of cardiolipin

1 reference

https://api.crossref.org/works/10.1038%2FNG.2325

21 January 2018

Late endosomal membranes rich in lysobisphosphatidic acid regulate cholesterol transport

1 reference

https://api.crossref.org/works/10.1038%2FNG.2325

21 January 2018

The role of cardiolipin in the structural organization of mitochondrial membranes

1 reference

https://api.crossref.org/works/10.1038%2FNG.2325

21 January 2018

Cardiolipin acts as a mitochondrial signalling platform to launch apoptosis.

1 reference

https://api.crossref.org/works/10.1038%2FNG.2325

21 January 2018

The enigmatic role of tafazzin in cardiolipin metabolism

1 reference

https://api.crossref.org/works/10.1038%2FNG.2325

21 January 2018

An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes

1 reference

https://api.crossref.org/works/10.1038%2FNG.2325

21 January 2018

The 3-methylglutaconic acidurias: what's new?

1 reference

https://api.crossref.org/works/10.1038%2FNG.2325

21 January 2018

A novel X-linked gene, G4.5. is responsible for Barth syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG.2325

21 January 2018

Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation

1 reference

https://api.crossref.org/works/10.1038%2FNG.2325

21 January 2018

Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy

1 reference

https://api.crossref.org/works/10.1038%2FNG.2325

21 January 2018

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG.2325

21 January 2018

News from the interface: the molecular structures of triacylglyceride lipases

1 reference

https://api.crossref.org/works/10.1038%2FNG.2325

21 January 2018

Predicting deleterious amino acid substitutions

1 reference

https://api.crossref.org/works/10.1038%2FNG.2325

21 January 2018

A method and server for predicting damaging missense mutations

1 reference

https://api.crossref.org/works/10.1038%2FNG.2325

21 January 2018

Lysobisphosphatidic acid controls endosomal cholesterol levels

1 reference

https://api.crossref.org/works/10.1038%2FNG.2325

21 January 2018

Nonesterified cholesterol content of lysosomes modulates susceptibility to oxidant-induced permeabilization

1 reference

https://api.crossref.org/works/10.1038%2FNG.2325

21 January 2018

Sigma-1 receptor chaperones at the ER-mitochondrion interface regulate Ca(2+) signaling and cell survival

1 reference

https://api.crossref.org/works/10.1038%2FNG.2325

21 January 2018

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://api.crossref.org/works/10.1038%2FNG.2325

21 January 2018

PLINK: a tool set for whole-genome association and population-based linkage analyses

1 reference

https://api.crossref.org/works/10.1038%2FNG.2325

21 January 2018

Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography-mass spectrometry as a diagnostic test for Barth syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FNG.2325

21 January 2018

A rapidly sedimenting fraction of rat liver endoplasmic reticulum.

1 reference

https://pubmed.ncbi.nlm.nih.gov/22683713

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phospholipid synthesis in a membrane fraction associated with mitochondria

1 reference

https://pubmed.ncbi.nlm.nih.gov/22683713

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Filipin test for diagnosis of Niemann-Pick disease type C

1 reference

https://pubmed.ncbi.nlm.nih.gov/22683713

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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