(Q50435885)

14 March 2018

title

First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking. (English)

1 reference

14 March 2018

Francisco Martínez-Azorín

author

object named as

Francisco Martínez-Azorín

8

0 references

Miguel Angel Martín

object named as

Miguel A Martín

7

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Joaquín Arenas

object named as

Joaquín Arenas

6

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author name string

María Elena Rodríguez-García

1

1 reference

14 March 2018

Elena Martín-Hernández

2

1 reference

14 March 2018

Ana Martínez de Aragón

3

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14 March 2018

María Teresa García-Silva

4

1 reference

14 March 2018

Pilar Quijada-Fraile

5

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14 March 2018

publication date

7 October 2015

1 reference

14 March 2018

published in

Neurogenetics

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14 March 2018

volume

17

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14 March 2018

issue

1

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14 March 2018

page(s)

51-56

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14 March 2018

https://scigraph.springernature.com/pub.10.1007/s10048-015-0463-z

exact match

0 references

cites work

Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation

1 reference

https://api.crossref.org/works/10.1007%2FS10048-015-0463-Z

Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-015-0463-Z

Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-015-0463-Z

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-015-0463-Z

MEGDEL Syndrome in a Child From Palestine: Report of a Novel Mutation in SERAC1 Gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-015-0463-Z

Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-015-0463-Z

The Expanding MEGDEL Phenotype: Optic Nerve Atrophy, Microcephaly, and Myoclonic Epilepsy in a Child with SERAC1 Mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-015-0463-Z

Tubular aggregates caused by serine active site containing 1 (SERAC1) mutations in a patient with a mitochondrial encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-015-0463-Z

Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-015-0463-Z

Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-Methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and leigh-Like Syndrome) caused by novel mutations in SERAC1

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26445863

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S10048-015-0463-Z

1 reference

14 March 2018

PubMed ID

26445863

1 reference

14 March 2018