(Q36746245)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22369973%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

title

Mitochondrial tRNA-serine (AGY) m.C12264T mutation causes severe multisystem disease with cataracts (English)

1 reference

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24 January 2020

5

1 reference

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24 January 2020

Marni Falk

9

1 reference

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24 January 2020

author name string

Samantha A Schrier

1

1 reference

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24 January 2020

Lee-Jun Wong

2

1 reference

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24 January 2020

Emily Place

3

1 reference

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24 January 2020

Jack Q Ji

4

1 reference

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24 January 2020

Jeffrey Golden

6

1 reference

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24 January 2020

Mariarita Santi

7

1 reference

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24 January 2020

William Anninger

8

1 reference

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24 January 2020

publication date

1 February 2012

1 reference

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24 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22369973%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

volume

13

1 reference

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24 January 2020

issue

69

1 reference

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24 January 2020

page(s)

143-150

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22369973%20AND%20SRC:MED&resulttype=core&format=json

Mitochondrial tRNA mutations and disease

24 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3618896

Clinical and experimental advances in congenital and paediatric cataracts.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3618896

Reactive Oxygen Species and the Aging Eye: Specific Role of Metabolically Active Mitochondria in Maintaining Lens Function and in the Initiation of the Oxidation-Induced Maturity Onset Cataract--A Novel Platform of Mitochondria-Targeted Antioxidants

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3618896

Mitochondrial cardiomyopathies: how to identify candidate pathogenic mutations by mitochondrial DNA sequencing, MITOMASTER and phylogeny

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3618896

Free radicals, antioxidants and eye diseases: evidence from epidemiological studies on cataract and age-related macular degeneration

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3618896

A compendium of human mitochondrial gene expression machinery with links to disease.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3618896

The GJA8 allele encoding CX50I247M is a rare polymorphism, not a cataract-causing mutation.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3618896

Mitochondrial function and redox control in the aging eye: role of MsrA and other repair systems in cataract and macular degenerations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3618896

A novel GJA8 mutation causing a recessive triangular cataract.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3618896

The in-depth evaluation of suspected mitochondrial disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3618896

Mitochondrial disease: a practical approach for primary care physicians.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3618896

Human mitochondrial transfer RNAs: role of pathogenic mutation in disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3618896

Oxidative stress in cataracts

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3618896

Characterization of the G91del CRYBA1/3-crystallin protein: a cause of human inherited cataract

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3618896

Redox regulation in the lens

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3618896

Selective reduction of AKR1C2 in prostate cancer and its role in DHT metabolism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3618896

Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3618896

Mutations in mitochondrial tRNA genes: a frequent cause of neuromuscular diseases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3618896

Congenital cataract and mitochondrial myopathy of skeletal and heart muscle associated with lactic acidosis after exercise

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3618896

A novel mutation in the mitochondrial tRNA(Ser(AGY)) gene associated with mitochondrial myopathy, encephalopathy, and complex I deficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3618896

Mitochondria induce oxidative stress, generation of reactive oxygen species and redox state unbalance of the eye lens leading to human cataract formation: disruption of redox lens organization by phospholipid hydroperoxides as a common basis for cat

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3618896

Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3618896

Maternally inherited hearing loss is associated with the novel mitochondrial tRNA Ser(UCN) 7505T>C mutation in a Han Chinese family.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3618896

Optimizing muscle biopsy for the diagnosis of mitochondrial myopathy.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3618896

Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3618896

Simultaneous determination of total human and male DNA using a duplex real-time PCR assay.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3618896

Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3618896

Adenine nucleotide translocator 1 deficiency associated with Sengers syndrome

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3618896

Bilateral infantile cataractogenesis in a patient with deficiency of complex I, a mitochondrial electron transport chain enzyme

5 September 2018

1 reference

12 December 2020

Bilateral zonular cataract associated with the mitochondrial cytopathy of Pearson syndrome

1 reference

12 December 2020

Pearson syndrome: Altered tricarboxylic acid and urea‐cycle metabolites, adrenal insufficiency and corneal opacities

1 reference

12 December 2020

Mitochondrial diabetes: investigation and identification of a novel mutation

1 reference

12 December 2020

Mitochondrial disorders and the eye

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22369973%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

PubMed publication ID

22369973

1 reference