(Q30600054)

17 October 2017

0 references

Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations (English)

1 reference

17 October 2017

2

1 reference

17 October 2017

Federica Invernizzi

1

0 references

Eleonora Lamantea

Eleonora Lamantea

3

0 references

Daniele Ghezzi

Daniele Ghezzi

7

0 references

Barbara Garavaglia

Barbara Garavaglia

4

0 references

Massimo Zeviani

5

Massimo Zeviani

1 reference

17 October 2017

8

Isabella Moroni

1 reference

ORCID Public Data File 2021

17 October 2017

1 reference

author name string

Laura Farina

6

1 reference

PMC publication ID

4238403

17 October 2017

language of work or name

1 reference

20 November 2014

1 reference

17 October 2017

Frontiers in Genetics

1 reference

17 October 2017

5

1 reference

17 October 2017

412

1 reference

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency

17 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4238403

Mitochondrial iron-sulfur protein biogenesis and human disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4238403

Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4238403

Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4238403

A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4238403

Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4238403

Iron-sulfur cluster biogenesis and human disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4238403

Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4238403

A novel syndrome affecting multiple mitochondrial functions, located by microcell-mediated transfer to chromosome 2p14-2p13.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4238403

Clinical and molecular findings in children with complex I deficiency

20 June 2018

1 reference

https://api.crossref.org/works/10.3389%2FFGENE.2014.00412

Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFGENE.2014.00412

A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFGENE.2014.00412

Leukoencephalopathy with cysts and hyperglycinemia may result from NFU1 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFGENE.2014.00412

Carnitine stimulation of pyruvate dehydrogenase complex (PDHC) in isolated human skeletal muscle mitochondria

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25477904

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.3389/FGENE.2014.00412

1 reference

17 October 2017

1 reference

PMC publication ID

4238403

17 October 2017

PubMed publication ID

25477904

1 reference

PMC publication ID

4238403