(Q24303975)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15367490%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

title

Localization and functional analyses of the MLC1 protein involved in megalencephalic leukoencephalopathy with subcortical cysts (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15367490%20AND%20SRC:MED&resulttype=core&format=json

megalencephalic leukoencephalopathy with subcortical cysts

1 January 2020

main subject

0 references

Modulator of VRAC current 1

1 reference

identical protein binding

GOA release 2020-03-11

1 reference

Megalencephalic leukoencephalopathy with subcortical cysts 1 homolog (human)

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15367490%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Michael Pusch

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15367490%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

José Antonio Del Río

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15367490%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Raul Estevez

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15367490%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

author name string

Oscar Teijido

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15367490%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Antonio Zorzano

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15367490%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Eduardo Soriano

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15367490%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Manuel Palacín

7

1 reference

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1 January 2020

language of work or name

English

0 references

publication date

14 September 2004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15367490%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

published in

Human Molecular Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15367490%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

volume

13

1 reference

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1 January 2020

issue

21

1 reference

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1 January 2020

page(s)

2581-2594

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15367490%20AND%20SRC:MED&resulttype=core&format=json

Search for common haplotypes on chromosome 22q in patients with schizophrenia or bipolar disorder from the Faroe Islands

1 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH291

7 January 2021

Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH291

7 January 2021

The brain-specific protein MLC1 implicated in megalencephalic leukoencephalopathy with subcortical cysts is expressed in glial cells in the murine brain.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH291

7 January 2021

Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders?

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH291

7 January 2021

Immunogold evidence suggests that coupling of K+ siphoning and water transport in rat retinal Müller cells is mediated by a coenrichment of Kir4.1 and AQP4 in specific membrane domains

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH291

7 January 2021

Reduced amplification efficiency of KIAA0027/MLC1 alleles: implications for the molecular diagnosis of megalencephalic leukoencephalopathy with subcortical cysts

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH291

7 January 2021

Leukoencephalopathy with swelling in children and adolescents: MRI patterns and differential diagnosis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH291

7 January 2021

Alexander disease: putative mechanisms of an astrocytic encephalopathy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH291

7 January 2021

Megalencephalic leukoencephalopathy with subcortical cysts in an adult: quantitative proton MR spectroscopy and diffusion tensor MRI.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH291

7 January 2021

Histopathology of an infantile-onset spongiform leukoencephalopathy with a discrepantly mild clinical course.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH291

7 January 2021

Severe metabolic abnormalities in the white matter of patients with vacuolating megalencephalic leukoencephalopathy with subcortical cysts. A proton MR spectroscopic imaging study

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH291

7 January 2021

Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH291

7 January 2021

Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH291

7 January 2021

A common mutation and a novel mutation in Japanese patients with van der Knaap disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH291

7 January 2021

Megalencephalic leukodystrophy in an Asian Indian ethnic group

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH291

7 January 2021

Brefeldin A: the advantage of being uncompetitive

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH291

7 January 2021

https://api.crossref.org/works/10.1093%2FHMG%2FDDH291

1 reference

7 January 2021

New roles for astrocytes: Regulation of synaptic transmission

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH291

7 January 2021

On the frequency of protein glycosylation, as deduced from analysis of the SWISS-PROT database

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH291

7 January 2021

Megalencephaly and leukodystrophy with mild clinical course: a report on 12 new cases.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH291

7 January 2021

Proton MR spectroscopy demonstration of taurine peaks in megalencephalic leukoencephalopathy with cysts

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH291

7 January 2021

The glycine peak in brain diseases

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH291

7 January 2021

A new ER trafficking signal regulates the subunit stoichiometry of plasma membrane K(ATP) channels

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH291

7 January 2021

Molecular basis for K(ATP) assembly: transmembrane interactions mediate association of a K+ channel with an ABC transporter

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH291

7 January 2021

Conservation of chloride channel structure revealed by an inhibitor binding site in ClC-1.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH291

7 January 2021

Glial cells and neurotransmission: an inclusive view of synaptic function

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH291

7 January 2021

Assembly-dependent trafficking assays in the detection of receptor-receptor interactions.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH291

7 January 2021

Epilepsy in vacuolating megalencephalic leukoencephalopathy with subcortical cysts

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH291

7 January 2021

Genes and subtypes of schizophrenia.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH291

7 January 2021

Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH291

7 January 2021

X-ray structure of a ClC chloride channel at 3.0 A reveals the molecular basis of anion selectivity

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH291

7 January 2021

Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH291

7 January 2021

A novel polymorphism in exon 11 of the WKL1 gene, shows no association with schizophrenia

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH291

7 January 2021

A missense mutation in a novel gene encoding a putative cation channel is associated with catatonic schizophrenia in a large pedigree

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH291

7 January 2021

The missense mutation in the WKL1 gene not found in patients with bipolar affective disorder

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH291

7 January 2021

No missense mutation of WKL1 in a subgroup of probands with schizophrenia.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH291

7 January 2021

Association of WKL1/MLC1 with catatonic schizophrenia

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH291

7 January 2021

Clinical and genetic heterogeneity in megalencephalic leukoencephalopathy with subcortical cysts (MLC).

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH291

7 January 2021

Identification and characterization of a membrane protein (y+L amino acid transporter-1) that associates with 4F2hc to encode the amino acid transport activity y+L. A candidate gene for lysinuric protein intolerance

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH291

7 January 2021

A heptad motif of leucine residues found in membrane proteins can drive self-assembly of artificial transmembrane segments

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH291

7 January 2021

Misfolding diverts CFTR from recycling to degradation: quality control at early endosomes

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH291

7 January 2021

Vacuoliting megalencephalic leukoencephalopathy with subcortical cysts, mapped to chromosome 22qtel

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH291

7 January 2021

Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH291

7 January 2021

Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH291

7 January 2021

Channelopathies as a genetic cause of epilepsy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH291

7 January 2021

Transient colocalization of parvalbumin and calbindin D28k in the postnatal cerebral cortex: evidence for a phenotypic shift in developing nonpyramidal neurons.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH291

7 January 2021

Curcumin, a major constituent of turmeric, corrects cystic fibrosis defects

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH291

7 January 2021

Structure of a glycerol-conducting channel and the basis for its selectivity

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH291

7 January 2021

Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH291

7 January 2021

Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH291

7 January 2021

Identifiers

DOI

10.1093/HMG/DDH291

2 references

Consolidated OpenCitations Corpus – April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15367490%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

1 reference

Consolidated OpenCitations Corpus – April 2017

2 references

Consolidated OpenCitations Corpus – April 2017