(Q48647903)

13 February 2018

http://europepmc.org/abstract/MED/25044933

title

Functional analyses of mutations in HEPACAM causing megalencephalic leukoencephalopathy (English)

1 reference

13 February 2018

http://europepmc.org/abstract/MED/25044933

author

Michael Pusch

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25044933%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Raul Estevez

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25044933%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

author name string

Tanit Arnedo

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25044933%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Tania López-Hernández

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25044933%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Elena Jeworutzki

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25044933%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Xavier Capdevila-Nortes

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25044933%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Sònia Sirisi

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25044933%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

publication date

18 August 2014

1 reference

13 February 2018

http://europepmc.org/abstract/MED/25044933

published in

Human Mutation

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25044933%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

volume

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25044933%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

issue

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25044933%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

page(s)

1175-1178

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25044933%20AND%20SRC:MED&resulttype=core&format=json

Insights into MLC pathogenesis: GlialCAM is an MLC1 chaperone required for proper activation of volume-regulated anion currents.

13 June 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22622

Knockdown of MLC1 in primary astrocytes causes cell vacuolation: a MLC disease cell model

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22622

Disrupting MLC1 and GlialCAM and ClC-2 interactions in leukodystrophy entails glial chloride channel dysfunction.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22622

GlialCAM, a protein defective in a leukodystrophy, serves as a ClC-2 Cl(-) channel auxiliary subunit

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22622

MLC1 trafficking and membrane expression in astrocytes: role of caveolin-1 and phosphorylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22622

Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22622

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22622

Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22622

Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22622