Renal involvement in mitochondrial cytopathies (Q35783708)

10 August 2017

1 reference

18 July 2020

Renal involvement in mitochondrial cytopathies. (English)

1 reference

10 August 2017

Kearns-Sayre syndrome

1 reference

18 July 2020

1 reference

18 July 2020

mitochondrial myopathy

1 reference

18 July 2020

2

1 reference

10 August 2017

Giovanni Montini

4

0 references

Francesco Emma

series ordinal

1

object named as

Francesco Emma

1 reference

10 August 2017

3

Leonardo Salviati

1 reference

10 August 2017

9 June 2011

1 reference

PubMed ID

21656172

10 August 2017

1 April 2012

7 references

5 March 2019

13 March 2019

22 March 2019

24 March 2019

25 April 2019

17 June 2019

18 July 2020

9 references

10 August 2017

5 March 2019

13 March 2019

22 March 2019

24 March 2019

25 April 2019

17 June 2019

29 May 2020

18 July 2020

27

1 reference

10 August 2017

539-550

1 reference

10 August 2017

4

1 reference

PubMed ID

21656172

on focus list of Wikimedia project

10 August 2017

ScienceSource

0 references

exact match

https://scigraph.springernature.com/pub.10.1007/s00467-011-1926-6

0 references

cites work

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

Coenzyme Q and mitochondrial disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

Treatment of CoQ(10) deficient fibroblasts with ubiquinone, CoQ analogs, and vitamin C: time- and compound-dependent effects

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

Coenzyme Q10 deficiencies in neuromuscular diseases

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

Mitochondrial encephalomyopathies and related syndromes: brief review

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

Multisystem manifestations of mitochondrial disorders

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

Analysis of coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

Mitochondrial disorders in the nervous system

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

Biochemical assays of respiratory chain complex activity

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

Mitochondrial disease--its impact, etiology, and pathology.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

Some observations upon biochemical causes of ataxia and a new disease entity ubiquinone, CoQ10 deficiency

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

Tubulointerstitial nephritis and Fanconi syndrome in primary biliary cirrhosis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

The kd/kd mouse is a model of collapsing glomerulopathy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

Isolation and functional expression of human COQ2, a gene encoding a polyprenyl transferase involved in the synthesis of CoQ

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

Antenatal manifestations of mitochondrial respiratory chain deficiency

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

The spectrum of systemic involvement in adults presenting with renal lesion and mitochondrial tRNA(Leu) gene mutation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

Mitochondrial respiratory-chain diseases

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

Tyrosinaemia type I and apoptosis of hepatocytes and renal tubular cells

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

Renal complications in a patient with A-to-G mutation of mitochondrial DNA at the 3243 position of leucine tRNA.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

Severe hypomagnesemia and hypoparathyroidism in Kearns-Sayre syndrome.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

Tissue mitochondrial DNA changes. A stochastic system

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

Mutation in mitochondrial tRNA(Leu(UUR)) gene associated with progressive kidney disease.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

Pearson's syndrome presenting with Fanconi syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

Mitochondrial myopathy with loosely coupled oxidative phosphorylation in a case of Zellweger syndrome. A cytochemical-ultrastructural study.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

Renal tubular involvement mimicking Bartter syndrome in a patient with Kearns-Sayre syndrome.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

Coenzyme Q10 distribution in blood is altered in patients with fibromyalgia.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

"Bartter-like" phenotype in Kearns-Sayre syndrome.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

Focal segmental glomerulosclerosis associated with mitochondrial cytopathy: report of two cases with special emphasis on podocytes

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

Respiratory chain deficiency presenting as congenital nephrotic syndrome.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

Mitochondrial tRNALeu(UUR) mutation in a patient with steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

A boy with mitochondrial disease: asymptomatic proteinuria without neuromyopathy.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

Mitochondrial cytopathy presenting with focal segmental glomerulosclerosis, hypoparathyroidism, sensorineural deafness, and progressive neurological disease

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

Mitochondrial medicine--molecular pathology of defective oxidative phosphorylation

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

Familial cerebellar ataxia with muscle coenzyme Q10 deficiency

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

Clinical and pathologic features of focal segmental glomerulosclerosis with mitochondrial tRNALeu(UUR) gene mutation.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

Hereditary glomerulopathy associated with a mitochondrial tRNA(Leu) gene mutation.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

A case of mitochondrial cytopathy with a typical point mutation for MELAS, presenting with severe focal-segmental glomerulosclerosis as main clinical manifestation.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3288375

Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene

25 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00467-011-1926-6

21 January 2018

Mitochondrial disorders

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00467-011-1926-6

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00467-011-1926-6

Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency

21 January 2018

1 reference

12 December 2020

Physicochemical and pharmacokinetic characterization of water-soluble Coenzyme Q(10) formulations

1 reference

12 December 2020

A case of Pearson syndrome associated with multiple renal cysts

1 reference

12 December 2020

Mitochondrial encephalomyopathies preceded by de-Toni-Debré-Fanconi syndrome or focal segmental glomerulosclerosis

1 reference

12 December 2020

Renal Fanconi syndrome: first sign of partial respiratory chain complex IV deficiency

1 reference

12 December 2020

Focal segmental glomerulosclerosis associated with mitochondrial cytopathy

1 reference

12 December 2020

Tubulointerstitial nephritis associated with a novel mitochondrial point mutation

1 reference

12 December 2020

Nephrotoxicity and the proximal tubule. Insights from cadmium

1 reference

12 December 2020

Kearns-Sayre syndrome presenting as renal tubular acidosis

1 reference

12 December 2020

Partial deficiency of cytochrome c oxidase with isolated proximal renal tubular acidosis and hypercalciuria

1 reference

12 December 2020

Mitochondrial DNA deletion: a cause of chronic tubulointerstitial nephropathy

1 reference

12 December 2020

Reference charts for respiratory chain activities in human tissues

1 reference

12 December 2020

Deletion of mitochondrial DNA in patient with chronic tubulointerstitial nephritis

1 reference

12 December 2020

Multiple mitochondrial DNA deletions in sporadic inclusion body myositis: a study of 56 patients

1 reference

12 December 2020

The kidney in mitochondrial cytopathies

1 reference

12 December 2020

Hair and Skin Disorders as Signs of Mitochondrial Disease

1 reference

12 December 2020

Renal complications in patients with diabetes mellitus associated with an A to G mutation of mitochondrial DNA at the 3243 position of leucine tRNA

1 reference

12 December 2020

Four-month-old infant with focal segmental glomerulosclerosis and mitochondrial DNA deletion

1 reference

12 December 2020

Renal pathology in children with mitochondrial diseases

1 reference

12 December 2020

Ifosfamide-induced nephrotoxicity: mechanism and prevention

1 reference

12 December 2020

Mitochondrial DNA deletion in a girl with Fanconi's syndrome

1 reference

12 December 2020

10.1007/S00467-011-1926-6

Identifiers

DOI

1 reference

10 August 2017

1 reference

10 August 2017

1 reference

PubMed ID

21656172