Functional evaluation of human ClC-2 chloride channel mutations associated with idiopathic generalized epilepsies (Q28271976)

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object named as

María Isabel Niemeyer

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author name string

Yamil R Yusef

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Isabel Cornejo

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Carlos A Flores

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Francisco V Sepúlveda

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L Pablo Cid

Intrasteric control of AMPK via the gamma1 subunit AMP allosteric regulatory site

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language of work or name

English

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publication date

16 September 2004

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published in

Physiological Genomics

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volume

19

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issue

1

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page(s)

74-83

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cites work

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00070.2004

Beyond Mendel: an evolving view of human genetic disease transmission

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00070.2004

JPCalc, a software package for calculating liquid junction potential corrections in patch-clamp, intracellular, epithelial and bilayer measurements and for correcting junction potential measurements

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00070.2004

The structure of a domain common to archaebacteria and the homocystinuria disease protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00070.2004

Male germ cells and photoreceptors, both dependent on close cell-cell interactions, degenerate upon ClC-2 Cl(-) channel disruption

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00070.2004

Splice variants of a ClC-2 chloride channel with differing functional characteristics

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00070.2004

Evidence for a functional interaction between the ClC-2 chloride channel and the retrograde motor dynein complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00070.2004

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00070.2004

Gating the selectivity filter in ClC chloride channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00070.2004

Functional and structural conservation of CBS domains from CLC chloride channels.

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00070.2004

Osmosensitivity of an inwardly rectifying chloride current revealed by whole-cell and perforated-patch recordings in cultured rat cortical astrocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00070.2004

Characterization of an inwardly rectifying chloride conductance expressed by cultured rat cortical astrocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00070.2004

pH modulation of an inward rectifier chloride current in cultured rat cortical astrocytes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00070.2004

AMP-activated protein kinase: the energy charge hypothesis revisited

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00070.2004

Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00070.2004

Descriptive epidemiology of epilepsy: contributions of population-based studies from Rochester, Minnesota

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00070.2004

The role of the carboxyl terminus in ClC chloride channel function

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00070.2004

Site-directed mutagenesis by overlap extension using the polymerase chain reaction

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00070.2004

Molecular structure and physiological function of chloride channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00070.2004

The skeletal muscle chloride channel in dominant and recessive human myotonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00070.2004

A common molecular basis for three inherited kidney stone diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00070.2004

Role of ER export signals in controlling surface potassium channel numbers

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00070.2004

pH-sensitive inwardly rectifying chloride current in cultured rat cortical astrocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00070.2004

Astrocytes from mouse brain slices express ClC-2-mediated Cl- currents regulated during development and after injury.

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00070.2004

Identification of epilepsy genes in human and mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00070.2004

Immortalization of hypothalamic GnRH neurons by genetically targeted tumorigenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00070.2004

Dimeric structure of single chloride channels from Torpedo electroplax

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00070.2004

A Conserved Pore‐Lining Glutamate as a Voltage‐ and Chloride‐Dependent Gate in the ClC‐2 Chloride Channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00070.2004

Genome search for susceptibility loci of common idiopathic generalised epilepsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00070.2004

The genetics of human epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00070.2004

Reconstitution of functional voltage-gated chloride channels from complementary fragments of CLC-1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00070.2004

CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00070.2004

Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00070.2004

The role of an inwardly rectifying chloride conductance in postsynaptic inhibition

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00070.2004

Alteration of GABAA receptor function following gene transfer of the CLC-2 chloride channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00070.2004

A chloride channel widely expressed in epithelial and non-epithelial cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00070.2004

Quality Control and Protein Folding in the Secretory Pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00070.2004

Chloride/anion channels in glial cell membranes

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00070.2004

Pores Formed by Single Subunits in Mixed Dimers of Different CLC Chloride Channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00070.2004

The voltage-dependent ClC-2 chloride channel has a dual gating mechanism

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00070.2004