Gastrointestinal dysmotility in mitochondrial neurogastrointestinal encephalomyopathy is caused by mitochondrial DNA depletion (Q30847673)

16 August 2017

Gastrointestinal dysmotility in mitochondrial neurogastrointestinal encephalomyopathy is caused by mitochondrial DNA depletion (English)

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mitochondrial neurogastrointestinal encephalomyopathy

16 August 2017

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1 reference

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inferred from title

author

Maria Lucia Valentino

6

Maria Lucia Valentino

1 reference

16 August 2017

Carla Giordano

1

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Roberto De Giorgio

Roberto De Giorgio

3

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Valerio Carelli

Valerio Carelli

11

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Andrea Cossarizza

Andrea Cossarizza

8

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author name string

Mariangela Sebastiani

2

1 reference

16 August 2017

Claudia Travaglini

4

1 reference

16 August 2017

Andrea Tancredi

5

1 reference

16 August 2017

Marzio Bellan

7

1 reference

16 August 2017

Michio Hirano

9

1 reference

16 August 2017

Giulia d'Amati

10

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16 August 2017

language of work or name

English

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publication date

11 September 2008

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The American Journal of Pathology

16 August 2017

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16 August 2017

173

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16 August 2017

4

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16 August 2017

1120-1128

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describes a project that uses

16 August 2017

1 reference

Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2543079

Chronic intestinal pseudo-obstruction: manifestations, natural history and management.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2543079

Physiological roles of vascular nucleoside transporters

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2543079

Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2543079

Mitochondrial neurogastrointestinal encephalomyopathy: evidence of mitochondrial DNA depletion in the small intestine

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2543079

Chronic intestinal pseudo-obstruction: assessment and management

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2543079

Effect of treatment interruption monitored by CD4 cell count on mitochondrial DNA content in HIV-infected patients: a prospective study

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2543079

Mitochondrial deoxynucleotide pools in quiescent fibroblasts: a possible model for mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2543079

Advances in our understanding of the pathology of chronic intestinal pseudo-obstruction

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2543079

Nucleoside transporter subtype expression and function in rat skeletal muscle microvascular endothelial cells

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2543079

Mitochondrial respiratory-chain diseases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2543079

Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2543079

Altered thymidine metabolism due to defects of thymidine phosphorylase

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2543079

Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2543079

The vascular endothelium: a survey of some newly evolving biochemical and physiological features

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2543079

Increased blood-brain barrier permeability with thymidine phosphorylase deficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2543079

ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2543079

Deoxyribonucleotide pool imbalance stimulates deletions in HeLa cell mitochondrial DNA.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2543079

Role of interstitial cells of Cajal in motility disorders of the bowel

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2543079

A multiplex real-time PCR method to detect and quantify mitochondrial DNA deletions in individual cells

25 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18787099

12 December 2020

inferred from PubMed ID database lookup

Coordinate induction of energy gene expression in tissues of mitochondrial disease patients

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18787099

12 December 2020

inferred from PubMed ID database lookup

Mitochondrial DNA Depletion and Thymidine Phosphate Pool Dynamics in a Cellular Model of Mitochondrial Neurogastrointestinal Encephalomyopathy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18787099

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.2353/AJPATH.2008.080252

1 reference

16 August 2017

1 reference

16 August 2017

PubMed publication ID

18787099

1 reference