Renal mitochondrial cytopathies (Q35137727)

6 August 2017

1 reference

title

Renal mitochondrial cytopathies (English)

1 reference

6 August 2017

1

Francesco Emma

1 reference

6 August 2017

3

Leonardo Salviati

1 reference

6 August 2017

Giovanni Montini

2

1 reference

6 August 2017

Carlo Dionisi-Vici

series ordinal

4

1 reference

6 August 2017

publication date

27 July 2011

1 reference

International Journal of Nephrology

6 August 2017

published in

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6 August 2017

volume

2011

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6 August 2017

page(s)

609213

1 reference

Creative Commons Attribution 3.0 Unported

6 August 2017

copyright license

start time

1 January 2011

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

1 reference

April 2022 Public Data File from Crossref

cites work

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

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

28 July 2018

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CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures

28 July 2018

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

28 July 2018

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28 July 2018

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

28 July 2018

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Biochemical assays of respiratory chain complex activity

28 July 2018

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

28 July 2018

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

28 July 2018

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

28 July 2018

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

28 July 2018

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

28 July 2018

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The mitochondrial and kidney disease phenotypes of kd/kd mice under germfree conditions

28 July 2018

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hCOX18 and hCOX19: two human genes involved in cytochrome c oxidase assembly

28 July 2018

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Tubulointerstitial nephritis and Fanconi syndrome in primary biliary cirrhosis

28 July 2018

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The kd/kd mouse is a model of collapsing glomerulopathy

28 July 2018

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Mutant prenyltransferase-like mitochondrial protein (PLMP) and mitochondrial abnormalities in kd/kd mice

28 July 2018

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

28 July 2018

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28 July 2018

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Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146993

Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency

28 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146993

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146993

Mitochondrial respiratory-chain diseases

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146993

Lethal neonatal carnitine palmitoyltransferase II deficiency: an unusual presentation of a rare disorder

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146993

GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146993

Tyrosinaemia type I and apoptosis of hepatocytes and renal tubular cells

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146993

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146993

Severe hypomagnesemia and hypoparathyroidism in Kearns-Sayre syndrome.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146993

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146993

Recognition and management of fatty acid oxidation defects: a series of 107 patients.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146993

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146993

Pearson's syndrome presenting with Fanconi syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146993

Lethal neonatal deficiency of carnitine palmitoyltransferase II associated with dysgenesis of the brain and kidneys.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146993

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146993

An inherited kidney disease of mice resembling human nephronophthisis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146993

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146993

Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146993

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146993

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146993

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146993

Nutritional inhibition of genetically determined renal disease and autoimmunity with prolongation of life in kdkd mice

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146993

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146993

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146993

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146993

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146993

Respiratory chain deficiency presenting as congenital nephrotic syndrome

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146993

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146993

A boy with mitochondrial disease: asymptomatic proteinuria without neuromyopathy.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146993

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146993

Mitochondrial medicine--molecular pathology of defective oxidative phosphorylation

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146993

Familial cerebellar ataxia with muscle coenzyme Q10 deficiency

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146993

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146993

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146993

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146993

27 September 2018

Mitochondrial disorders

1 reference

Crossref

https://api.crossref.org/works/10.4061/2011/609213

Focal segmental glomerulosclerosis associated with mitochondrial cytopathy

21 January 2018

1 reference

12 December 2020

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

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12 December 2020

Renal pathology in children with mitochondrial diseases

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12 December 2020

Brief report: renal tubular acidosis in carnitine palmitoyltransferase type 1 deficiency

1 reference

12 December 2020

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

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

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

1 reference

12 December 2020

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

1 reference

12 December 2020

Deletion of mitochondrial DNA in patient with chronic tubulointerstitial nephritis

1 reference

12 December 2020

Kearns-Sayre syndrome presenting as renal tubular acidosis

1 reference

12 December 2020

Ifosfamide-induced nephrotoxicity: mechanism and prevention

1 reference

12 December 2020

Mitochondrial DNA deletion: a cause of chronic tubulointerstitial nephropathy

1 reference

12 December 2020

Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?

1 reference

12 December 2020

Nephrotoxicity and the proximal tubule. Insights from cadmium

1 reference

12 December 2020

Hair and Skin Disorders as Signs of Mitochondrial Disease

1 reference

12 December 2020

Fetal polycystic kidney disease associated with glutaric aciduria type II: an inborn error of energy metabolism

1 reference

12 December 2020

The kidney in mitochondrial cytopathies

1 reference

12 December 2020

Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Mitochondrial DNA deletion in a girl with Fanconi's syndrome

1 reference

12 December 2020

A case of Pearson syndrome associated with multiple renal cysts

1 reference

12 December 2020

Tubulointerstitial nephritis associated with a novel mitochondrial point mutation

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.4061/2011/609213

1 reference

6 August 2017

1 reference

6 August 2017

1 reference