Complex I deficiency due to loss of Ndufs4 in the brain results in progressive encephalopathy resembling Leigh syndrome (Q33934412)

30 July 2017

Complex I deficiency due to loss of Ndufs4 in the brain results in progressive encephalopathy resembling Leigh syndrome (English)

1 reference

30 July 2017

Shane E Kruse

2

0 references

Elisenda Sanz

object named as

Elisenda Sanz

4

0 references

Albert Quintana

object named as

Albert Quintana

1

0 references

author name string

Raj P Kapur

3

1 reference

PubMed ID

20534480

30 July 2017

Richard D Palmiter

5

1 reference

PubMed ID

20534480

30 July 2017

language of work or name

English

0 references

publication date

1 June 2010

1 reference

Proceedings of the National Academy of Sciences of the United States of America

30 July 2017

1 reference

30 July 2017

107

1 reference

30 July 2017

10996-11001

1 reference

30 July 2017

24

1 reference

Apoptosis and autophagy: Regulation of caspase-9 by phosphorylation.

30 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2890717

Cell-type-specific isolation of ribosome-associated mRNA from complex tissues

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2890717

Mice with mitochondrial complex I deficiency develop a fatal encephalomyopathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2890717

Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2890717

Microglia-mediated neurotoxicity: uncovering the molecular mechanisms

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2890717

Defects in energy homeostasis in Leigh syndrome French Canadian variant through PGC-1alpha/LRP130 complex

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2890717

Clinico-neuropathological study of a Chinese case of familial adult Leigh syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2890717

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2890717

Subacute necrotizing encephalomyelopathy in an infant

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2890717

Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2890717

The Fas signaling pathway: more than a paradigm

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2890717

Why do Purkinje cells die so easily after global brain ischemia? Aldolase C, EAAT4, and the cerebellar contribution to posthypoxic myoclonus.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2890717

Mutation in the NDUFS4 gene of complex I abolishes cAMP-dependent activation of the complex in a child with fatal neurological syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2890717

Disruption of the glucocorticoid receptor gene in the nervous system results in reduced anxiety

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2890717

Adult Leigh syndrome with mitochondrial DNA mutation at 8993.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2890717

The first nuclear-encoded complex I mutation in a patient with Leigh syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2890717

Differential regulation and ATP requirement for caspase-8 and caspase-3 activation during CD95- and anticancer drug-induced apoptosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2890717

Intracellular ATP levels determine cell death fate by apoptosis or necrosis.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2890717

Intracellular adenosine triphosphate (ATP) concentration: a switch in the decision between apoptosis and necrosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2890717

A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndrome.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2890717

A biochemically distinct form of cytochrome oxidase (COX) deficiency in the Saguenay-Lac-Saint-Jean region of Quebec

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2890717

Mitochondrial disorders: analysis of their clinical and imaging characteristics.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2890717

Pathogenic factors underlying the lesions in Leigh's disease. Tissue responses to cellular energy deprivation and their clinico-pathological consequences

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2890717

The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.

5 July 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1006214107

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1006214107

Infantile Spasms with Basal Ganglia MRI Hypersignal May Reveal Mitochondrial Disorder Due to T8993G MT DNA Mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1006214107

Mechanisms of unexpected death and autopsy findings in Leigh syndrome (subacute necrotising encephalomyelopathy).

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1006214107

Leigh syndrome: clinical and neuroimaging follow-up

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1006214107

Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1006214107

Cerebellar agenesis: clinical, neuropsychological and MR findings.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1006214107

Caspase-8 is an effector in apoptotic death of dopaminergic neurons in Parkinson's disease, but pathway inhibition results in neuronal necrosis.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2890717

Leigh syndrome: serial MR imaging and clinical follow-up

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20534480

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

1 reference

https://pubmed.ncbi.nlm.nih.gov/20534480

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.1006214107

1 reference

30 July 2017

0 references

1 reference

30 July 2017

1 reference

PubMed ID

20534480