ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption (Q37384113)

20 August 2017

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption (English)

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20 August 2017

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GOA release 2020-03-11

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20

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20 August 2017

12

Patrick Nitschké

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20 August 2017

Christine Bôle-Feysot

13

Christine Bole-Feysot

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Moumita Barua

Moumita Barua

21

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Shawn Levy

Shawn Levy

36

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Andrew D. Paterson

Andrew D Paterson

11

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Moin A Saleem

26

Moin A Saleem

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20 August 2017

Holger Prokisch

39

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Corinne Antignac

Corinne Antignac

44

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Heon Yung Gee

Heon Yung Gee

2

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Virginia Vega-Warner

5

Virginia Vega-Warner

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20 August 2017

42

Catherine F Clarke

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20 August 2017

28

Robert Kleta

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20 August 2017

33

Roger C Wiggins

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20 August 2017

19

Rannar Airik

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20 August 2017

27

Detlef Böckenhauer

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20 August 2017

15

Julian Esteve-Rudd

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20 August 2017

6

Svjetlana Lovric

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20 August 2017

1

Shazia Ashraf

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20 August 2017

7

Humphrey Fang

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20 August 2017

25

Agnieszka Bierzynska

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20 August 2017

23

Jameela A Kari

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20 August 2017

31

Faysal Gok

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20 August 2017

43

York Pei

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20 August 2017

9

Daniel C Cattran

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20 August 2017

Stephanie Woerner

3

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20 August 2017

Letian X Xie

4

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20 August 2017

Xuewen Song

8

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20 August 2017

Carmen Avila-Casado

10

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20 August 2017

Pierre Cochat

14

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20 August 2017

Birgit Haberberger

16

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20 August 2017

Susan J Allen

17

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20 August 2017

Weibin Zhou

18

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20 August 2017

Mohamed H Al-Hamed

22

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20 August 2017

Jonathan Evans

24

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20 August 2017

Sherif El Desoky

29

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20 August 2017

Duygu O Hacihamdioglu

30

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20 August 2017

Joseph Washburn

32

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20 August 2017

Murim Choi

34

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20 August 2017

Richard P Lifton

35

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20 August 2017

Zhe Han

37

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20 August 2017

Leonardo Salviati

38

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20 August 2017

David S Williams

40

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20 August 2017

Martin Pollak

41

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20 August 2017

Friedhelm Hildebrandt

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20 August 2017

language of work or name

English

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publication date

25 November 2013

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Journal of Clinical Investigation

20 August 2017

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20 August 2017

123

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20 August 2017

5179-5189

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20 August 2017

12

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Mutations in COQ2 in familial and sporadic multiple-system atrophy

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859425

Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic 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=3859425

An in vivo functional analysis system for renal gene discovery in Drosophila pericardial nephrocytes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859425

Cubilin and amnionless mediate protein reabsorption in Drosophila nephrocytes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859425

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=3859425

Inducible podocyte injury and proteinuria in transgenic zebrafish

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859425

Haploinsufficiency of COQ4 causes coenzyme Q10 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=3859425

Primary and secondary CoQ(10) deficiencies in humans

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859425

Disruption of PTPRO causes childhood-onset nephrotic 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=3859425

Probucol ameliorates renal and metabolic sequelae of primary CoQ deficiency in Pdss2 mutant mice

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859425

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859425

Expression of the human atypical kinase ADCK3 rescues coenzyme Q biosynthesis and phosphorylation of Coq polypeptides in yeast coq8 mutants

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859425

Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859425

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859425

6 September 2017

Genetic kidney diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859425

A systematic approach to mapping recessive disease genes in individuals from outbred populations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859425

Ubiquinone biosynthesis in Saccharomyces cerevisiae: the molecular organization of O-methylase Coq3p depends on Abc1p/Coq8p

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859425

ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 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=3859425

CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859425

COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859425

p53 activation by knockdown technologies

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859425

Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859425

Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859425

Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) 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=3859425

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859425

A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 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=3859425

The kd/kd mouse is a model of collapsing glomerulopathy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859425

Genetic models: clues for understanding the pathogenesis of idiopathic nephrotic 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=3859425

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859425

A defect in coenzyme Q biosynthesis is responsible for the respiratory deficiency in Saccharomyces cerevisiae abc1 mutants

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859425

EBV Immortalization of human B lymphocytes separated from small volumes of cryo-preserved whole blood

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859425

A conditionally immortalized human podocyte cell line demonstrating nephrin and podocin expression.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859425

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859425

Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2).

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859425

Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859425

Hand is a direct target of Tinman and GATA factors during Drosophila cardiogenesis and hematopoiesis.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859425

High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859425

Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency

3 December 2018

1 reference

12 December 2020

Primary nephrotic syndrome in children: clinical significance of histopathologic variants of minimal change and of diffuse mesangial hypercellularity. A Report of the International Study of Kidney Disease in Children

1 reference

12 December 2020

Renal transplantation in children with congenital nephrotic syndrome: a report of the North American Pediatric Renal Transplant Cooperative Study (NAPRTCS)

1 reference

12 December 2020

Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation

1 reference

12 December 2020

Collapsing glomerulopathy

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI69000

1 reference

20 August 2017

1 reference

20 August 2017

1 reference