(Q24606103)

22 June 2017

title

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness (English)

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22 June 2017

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52

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Holger Prokisch

27

Holger Prokisch

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Friedhelm Hildebrandt

56

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Gudrun Nürnberg

29

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Agnès Rötig

28

Agnès Rötig

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22 June 2017

Neveen A Soliman

48

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Takehiro Kusakabe

Takehiro Kusakabe

45

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Roger C Wiggins

Roger C Wiggins

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Mara Doimo

Mara Doimo

23

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Sema Akman

Sema Akman

47

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Martin Zenker

41

Martin Zenker

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22 June 2017

10

Virginia Vega-Warner

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22 June 2017

53

Catherine F Clarke

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30

Christian Becker

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Saskia F Heeringa

1

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Gil Chernin

2

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Moumita Chaki

3

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22 June 2017

Weibin Zhou

4

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22 June 2017

Alexis J Sloan

5

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22 June 2017

Ziming Ji

6

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22 June 2017

Letian X Xie

7

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22 June 2017

Leonardo Salviati

8

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22 June 2017

Toby W Hurd

9

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Paul D Killen

11

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Yehoash Raphael

12

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22 June 2017

Shazia Ashraf

13

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22 June 2017

Bugsu Ovunc

14

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22 June 2017

Dominik S Schoeb

15

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22 June 2017

Heather M McLaughlin

16

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22 June 2017

Rannar Airik

17

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22 June 2017

Christopher N Vlangos

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22 June 2017

Rasheed Gbadegesin

19

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22 June 2017

Bernward Hinkes

20

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22 June 2017

Pawaree Saisawat

21

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Eva Trevisson

22

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Alberto Casarin

24

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Vanessa Pertegato

25

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Gianpietro Giorgi

26

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22 June 2017

Su Wang

31

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Fatih Ozaltin

32

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22 June 2017

Rezan Topaloglu

33

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22 June 2017

Aysin Bakkaloglu

34

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22 June 2017

Sevcan A Bakkaloglu

35

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22 June 2017

Dominik Müller

36

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22 June 2017

Antje Beissert

37

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22 June 2017

Sevgi Mir

38

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22 June 2017

Afig Berdeli

39

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Seza Varpizen

40

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22 June 2017

Verena Matejas

42

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22 June 2017

Carlos Santos-Ocaña

43

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22 June 2017

Placido Navas

44

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22 June 2017

Andreas Kispert

46

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22 June 2017

Stefanie Krick

49

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22 June 2017

Peter Mundel

50

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22 June 2017

Jochen Reiser

51

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22 June 2017

Christian Faul

55

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22 June 2017

language of work or name

English

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publication date

11 April 2011

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Journal of Clinical Investigation

22 June 2017

published in

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22 June 2017

volume

121

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22 June 2017

issue

5

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22 June 2017

page(s)

2013-2024

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Nephrocystin-3 is required for ciliary function in zebrafish embryos

22 June 2017

cites work

1 reference

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Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis

7 April 2017

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A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease

7 April 2017

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7 April 2017

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

7 April 2017

1 reference

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Selective degradation of mitochondria by mitophagy

7 April 2017

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

7 April 2017

1 reference

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

7 April 2017

1 reference

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Synaptopodin regulates the actin-bundling activity of alpha-actinin in an isoform-specific manner

7 April 2017

1 reference

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Isolation and functional expression of human COQ3, a gene encoding a methyltransferase required for ubiquinone biosynthesis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083770

Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083770

A system for stable expression of short interfering RNAs in mammalian cells

7 April 2017

1 reference

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083770

The Saccharomyces cerevisiae COQ6 Gene Encodes a Mitochondrial Flavin-dependent Monooxygenase Required for Coenzyme Q Biosynthesis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083770

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083770

Yeast and rat Coq3 and Escherichia coli UbiG polypeptides catalyze both O-methyltransferase steps in coenzyme Q biosynthesis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083770

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083770

NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083770

Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083770

TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083770

The pathophysiology of mitochondrial cell death

7 April 2017

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A set of vectors with a tetracycline-regulatable promoter system for modulated gene expression in Saccharomyces cerevisiae

7 April 2017

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A simple and efficient procedure for transformation of yeasts

7 April 2017

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Genetics of nephrotic syndrome: connecting molecular genetics to podocyte physiology

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083770

Coenzyme Q10 supplementation rescues renal disease in Pdss2kd/kd mice with mutations in prenyl diphosphate synthase subunit 2

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083770

Mpv17l protects against mitochondrial oxidative stress and apoptosis by activation of Omi/HtrA2 protease.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083770

Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083770

Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease

27 September 2017

1 reference

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Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ10 deficiency

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083770

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

27 September 2017

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Mitochondrial diseases: therapeutic approaches

27 September 2017

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The antioxidant role of coenzyme Q.

27 September 2017

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The spectrum of podocytopathies: a unifying view of glomerular diseases.

27 September 2017

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Mutations in coenzyme Q10 biosynthetic genes

27 September 2017

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

27 September 2017

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The plasma membrane redox system in aging

27 September 2017

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Hereditary proteinuria syndromes and mechanisms of proteinuria

27 September 2017

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Apoptotic pathways: ten minutes to dead

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083770

A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083770

Metabolism and function of coenzyme Q.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083770

Cyclophilin D as a drug target

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083770

Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083770

Apoptosis: unmasking the executioner

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083770

Rearrangements of the cytoskeleton and cell contacts induce process formation during differentiation of conditionally immortalized mouse podocyte cell lines.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083770

Complementation of coq3 mutant yeast by mitochondrial targeting of the Escherichia coli UbiG polypeptide: evidence that UbiG catalyzes both O-methylation steps in ubiquinone biosynthesis.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083770

Glomerular epithelial protein 1 and podocalyxin-like protein 1 in inflammatory glomerular disease (crescentic nephritis) in rabbit and man.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083770

Genetic evidence for the requirement of the endocytic pathway in the uptake of coenzyme Q6 in Saccharomyces cerevisiae

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083770

Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083770

Water-soluble Coenzyme Q10 formulation (Q-ter) promotes outer hair cell survival in a guinea pig model of noise induced hearing loss (NIHL).

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083770

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083770

Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083770

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083770

Molecular basis of steroid-resistant nephrotic syndrome.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083770

NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083770

Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083770

Methods on in situ hybridization, immunohistochemistry and beta-galactosidase reporter gene detection

28 November 2018

1 reference

12 December 2020

Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency

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

Short versus standard prednisone therapy for initial treatment of idiopathic nephrotic syndrome in children. Arbeitsgemeinschaft für Pädiatrische Nephrologie

1 reference

12 December 2020

Getting a foothold in nephrotic syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI45693

1 reference

OpenCitations bibliographic resource ID

22 June 2017

2121903

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2121903

1 reference