(Q44898847)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24336169%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

title

Ionic leakage underlies a gain-of-function effect of dominant disease mutations affecting diverse P-type ATPases (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24336169%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24336169%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

author name string

Maki Kaneko

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24336169%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Boaz Cook

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24336169%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

language of work or name

English

0 references

publication date

15 December 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24336169%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24336169%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

volume

46

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24336169%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24336169%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

page(s)

144-151

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24336169%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ng.2850

3 March 2020

exact match

0 references

cites work

Biology, structure and mechanism of P-type ATPases

1 reference

21 January 2018

1 reference

Crystal structure of the calcium pump of sarcoplasmic reticulum at 2.6 A resolution

21 January 2018

1 reference

First crystal structures of Na+,K+-ATPase: new light on the oldest ion pump.

21 January 2018

1 reference

In and out of the cation pumps: P-type ATPase structure revisited

21 January 2018

1 reference

Autosomal-dominant calcium ATPase disorders

21 January 2018

1 reference

Calcium pumps in health and disease

21 January 2018

1 reference

Molecular genetics of migraine

21 January 2018

1 reference

Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism

21 January 2018

1 reference

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

21 January 2018

1 reference

Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2

21 January 2018

1 reference

Na,K-ATPase and the role of alpha isoforms in behavior

21 January 2018

1 reference

Deficiency in Na,K-ATPase alpha isoform genes alters spatial learning, motor activity, and anxiety in mice

21 January 2018

1 reference

Loss of the Atp2c1 secretory pathway Ca(2+)-ATPase (SPCA1) in mice causes Golgi stress, apoptosis, and midgestational death in homozygous embryos and squamous cell tumors in adult heterozygotes

21 January 2018

1 reference

Physiological functions of plasma membrane and intracellular Ca2+ pumps revealed by analysis of null mutants.

21 January 2018

1 reference

Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension

21 January 2018

1 reference

Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension.

21 January 2018

1 reference

Preserving cell shape under environmental stress

21 January 2018

1 reference

The Zuker collection: a resource for the analysis of autosomal gene function in Drosophila melanogaster

21 January 2018

1 reference

Analysis of conditional paralytic mutants in Drosophila sarco-endoplasmic reticulum calcium ATPase reveals novel mechanisms for regulating membrane excitability

21 January 2018

1 reference

ATP1A2 mutations in 11 families with familial hemiplegic migraine

21 January 2018

1 reference

Transient nonverbal learning disorder in a child suffering from Familial Hemiplegic Migraine.

21 January 2018

1 reference

Prolonged hemiplegic episodes in children due to mutations in ATP1A2.

21 January 2018

1 reference

Novel ATP2A2 mutations in a large sample of individuals with Darier disease.

21 January 2018

1 reference

Variability of familial hemiplegic migraine with novel A1A2 Na+/K+-ATPase variants

21 January 2018

1 reference

The genetic spectrum of a population-based sample of familial hemiplegic migraine.

21 January 2018

1 reference

ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia.

21 January 2018

1 reference

Five mutations of ATP2A2 gene in Chinese patients with Darier's disease and a literature review of 86 cases reported in China

21 January 2018

1 reference

Spectrum of novel ATP2A2 mutations in patients with Darier's disease.

21 January 2018

1 reference

Mutational analysis of the ATP2A2 gene in two Darier disease families with intrafamilial variability

21 January 2018

1 reference

Ion channels versus ion pumps: the principal difference, in principle

21 January 2018

1 reference

ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class.

21 January 2018

1 reference

Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease

21 January 2018

1 reference

Multiple effects of SERCA2b mutations associated with Darier's disease

21 January 2018

1 reference

Calcium transport mechanisms of PC12 cells.

21 January 2018

1 reference

Dissection of the functional differences between sarco(endo)plasmic reticulum Ca2+-ATPase (SERCA) 1 and 2 isoforms and characterization of Darier disease (SERCA2) mutants by steady-state and transient kinetic analyses

21 January 2018

1 reference

Comprehensive analysis of expression and function of 51 sarco(endo)plasmic reticulum Ca2+-ATPase mutants associated with Darier disease.

21 January 2018

1 reference

Diverse functional consequences of mutations in the Na+/K+-ATPase alpha2-subunit causing familial hemiplegic migraine type 2

21 January 2018

1 reference

The multiple lives of NMD factors: balancing roles in gene and genome regulation

21 January 2018

1 reference

Increased susceptibility to cortical spreading depression in the mouse model of familial hemiplegic migraine type 2.

21 January 2018

1 reference

Mutation I810N in the alpha3 isoform of Na+,K+-ATPase causes impairments in the sodium pump and hyperexcitability in the CNS.

21 January 2018

1 reference

Characterization of Atp1a3 mutant mice as a model of rapid-onset dystonia with parkinsonism.

21 January 2018

1 reference

Alternating hemiplegia of childhood-related neural and behavioural phenotypes in Na+,K+-ATPase α3 missense mutant mice

21 January 2018

1 reference

Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients

21 January 2018

1 reference

Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.

21 January 2018

1 reference

Na+/K+-pump ligands modulate gating of palytoxin-induced ion channels

21 January 2018

1 reference

Altered Na+ transport after an intracellular alpha-subunit deletion reveals strict external sequential release of Na+ from the Na/K pump

21 January 2018

1 reference

Hyperpolarization-activated inward leakage currents caused by deletion or mutation of carboxy-terminal tyrosines of the Na+/K+-ATPase {alpha} subunit

21 January 2018

1 reference

Allostery in disease and in drug discovery

21 January 2018

1 reference

STIMulating store-operated Ca(2+) entry

21 January 2018

1 reference

Splice-site A choice targets plasma-membrane Ca2+-ATPase isoform 2 to hair bundles

21 January 2018

1 reference

Four novel ATP2A2 mutations in Slovenian patients with Darier disease

21 January 2018

1 reference

12 December 2020

Mutations in ATP2A2 in patients with Darier's disease

1 reference

12 December 2020

Mutation analysis of the ATP2A2 gene in Chinese patients with Darier's disease

1 reference

12 December 2020

Genetic heterogeneity in acrokeratosis verruciformis of Hopf

1 reference

12 December 2020

Darier disease--novel mutations in ATP2A2 and genotype-phenotype correlation

1 reference

12 December 2020

Mutation analysis of the ATP2A2 gene in Taiwanese patients with Darier's disease

1 reference

12 December 2020

Identifiers

DOI

10.1038/NG.2850

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24336169%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

1 reference