(Q36809656)

16 August 2017

Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency (English)

1 reference

16 August 2017

11

Agnès Rötig

1 reference

16 August 2017

Konstantina Fragaki

1

1 reference

16 August 2017

Samira Ait-El-Mkadem

2

1 reference

16 August 2017

Annabelle Chaussenot

3

1 reference

16 August 2017

Catherine Gire

4

1 reference

16 August 2017

Raymond Mengual

5

1 reference

16 August 2017

Laurent Bonesso

6

1 reference

16 August 2017

Marie Bénéteau

7

1 reference

16 August 2017

Jean-Ehrland Ricci

8

1 reference

16 August 2017

Valérie Desquiret-Dumas

9

1 reference

16 August 2017

Vincent Procaccio

10

1 reference

16 August 2017

Véronique Paquis-Flucklinger

12

1 reference

16 August 2017

19 September 2012

1 reference

European Journal of Human Genetics

16 August 2017

1 reference

16 August 2017

21

1 reference

16 August 2017

5

1 reference

16 August 2017

528-534

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2012.202

16 August 2017

0 references

cites work

Rapid Profiling of Bovine and Human Milk Gangliosides by Matrix-Assisted Laser Desorption/Ionization Fourier Transform Ion Cyclotron Resonance Mass Spectrometry.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641379

The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641379

Multi-system disorders of glycosphingolipid and ganglioside 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=3641379

Epilepsy and respiratory chain defects in children with mitochondrial encephalopathies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641379

Infantile and pediatric quinone deficiency 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=3641379

Surveyor Nuclease: a new strategy for a rapid identification of heteroplasmic mitochondrial DNA mutations in patients with respiratory chain defects.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641379

Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641379

Enhanced insulin sensitivity in mice lacking ganglioside GM3.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641379

Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641379

Direct interaction of GD3 ganglioside with mitochondria generates reactive oxygen species followed by mitochondrial permeability transition, cytochrome c release, and caspase activation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641379

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641379

Altered mitochondrial function in fibroblasts containing MELAS or MERRF mitochondrial DNA mutations.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641379

Deficient Ganglioside Biosynthesis: a novel human sphingolipidosis

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641379

Epileptic phenotypes in children with respiratory chain disorders

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641379

Mitochondrial respiratory chain defects: underlying etiology in various epileptic conditions.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641379

Etiology of vision loss in ganglioside GM3 synthase deficiency.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641379

Effects of disialoganglioside GD3 on the mitochondrial membrane potential.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641379

Neonatal liver failure and Leigh syndrome possibly due to CoQ-responsive OXPHOS deficiency.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641379

Epileptic phenotypes associated with mitochondrial disorders.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641379

Dramatic improvement in mitochondrial cardiomyopathy following treatment with idebenone

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641379

Direct inhibition of mitochondrial respiratory chain complex III by cell-permeable ceramide

5 September 2018

1 reference

12 December 2020

Fatal heart failure associated with CoQ10 and multiple OXPHOS deficiency in a child with propionic acidemia

1 reference

12 December 2020

Biochemical and molecular investigations in respiratory chain deficiencies

1 reference

12 December 2020

Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases

1 reference

12 December 2020

Secondary coenzyme Q10 deficiency triggers mitochondria degradation by mitophagy in MELAS fibroblasts

1 reference

12 December 2020

Rapid mapping of mitochondrial dna deletions by large-fragment PCR

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2012.202

1 reference

Dimensions Publication ID

16 August 2017

0 references

1 reference

16 August 2017

1 reference