(Q36374568)

13 August 2017

A novel homozygous mutation in SUCLA2 gene identified by exome sequencing (English)

1 reference

13 August 2017

1 reference

Mingyan Fang

2

0 references

Federica Invernizzi

object named as

Federica Invernizzi

3

0 references

Daniele Ghezzi

object named as

Daniele Ghezzi

11

0 references

Massimo Zeviani

9

object named as

Massimo Zeviani

1 reference

13 August 2017

1

Costanza Lamperti

1 reference

13 August 2017

8

Isabella Moroni

1 reference

13 August 2017

Xuanzhu Liu

4

1 reference

13 August 2017

Hairong Wang

5

1 reference

13 August 2017

Qing Zhang

6

1 reference

13 August 2017

Franco Carrara

7

1 reference

13 August 2017

Jianguo Zhang

10

1 reference

13 August 2017

7 September 2012

1 reference

Molecular Genetics and Metabolism

13 August 2017

1 reference

13 August 2017

107

1 reference

13 August 2017

3

1 reference

13 August 2017

403-408

1 reference

Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta

13 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490101

The interplay between SUCLA2, SUCLG2, and mitochondrial DNA depletion.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490101

SOAP2: an improved ultrafast tool for short read alignment

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490101

SNP detection for massively parallel whole-genome resequencing

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490101

A mitochondrial protein compendium elucidates complex I disease biology

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490101

Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490101

Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490101

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490101

Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490101

Expression of two succinyl-CoA synthetases with different nucleotide specificities in mammalian tissues

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490101

Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490101

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490101

The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490101

Genetic evidence for the expression of ATP- and GTP-specific succinyl-CoA synthetases in multicellular eucaryotes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490101

EX-HOM (EXome HOMozygosity): a proof of principle

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490101

Disorders from perturbations of nuclear-mitochondrial intergenomic cross-talk.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490101

Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490101

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

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490101

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

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490101

Clinical and molecular findings in children with complex I deficiency

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490101

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3490101

Twinkle helicase(PEO1)gene mutation causes mitochondrial DNA depletion

21 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.08.020

Cytochemistry and immunocytochemistry of mitochondria in tissue sections

7 January 2021

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.08.020

Needle biopsy of skeletal muscle

7 January 2021

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23010432

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.YMGME.2012.08.020

1 reference

13 August 2017

1 reference

13 August 2017

PubMed publication ID

23010432

1 reference