A SINE Insertion in ATP1B2 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA2). (Q38723250)

5 September 2017

A SINE Insertion in ATP1B2 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA2). (English)

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5 September 2017

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18

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1 June 2020

Nico Mauri

1

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Nadine Stokar-Regenscheit

1 June 2020

12

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1 June 2020

15

Christiane Herden

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1 June 2020

author name string

Miriam Kleiter

2

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1 June 2020

Elisabeth Dietschi

3

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1 June 2020

Michael Leschnik

4

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1 June 2020

Sandra Högler

5

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1 June 2020

Michaela Wiedmer

6

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1 June 2020

Joëlle Dietrich

7

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1 June 2020

Diana Henke

8

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1 June 2020

Frank Steffen

9

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1 June 2020

Simone Schuller

10

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1 June 2020

Corinne Gurtner

11

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1 June 2020

Donal O'Toole

13

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1 June 2020

Thomas Bilzer

14

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1 June 2020

Anna Oevermann

16

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1 June 2020

Vidhya Jagannathan

17

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1 June 2020

publication date

15 June 2017

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5 September 2017

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1 June 2020

volume

7

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1 June 2020

issue

8

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1 June 2020

page(s)

2729-2737

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A Missense Variant in KCNJ10 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA1).

1 June 2020

cites work

1 reference

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ATP1A2 Mutations in Migraine: Seeing through the Facets of an Ion Pump onto the Neurobiology of Disease

6 September 2017

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Insights into the Pathology of the α3 Na(+)/K(+)-ATPase Ion Pump in Neurological Disorders; Lessons from Animal Models

6 September 2017

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Managing Brain Extracellular K(+) during Neuronal Activity: The Physiological Role of the Na(+)/K(+)-ATPase Subunit Isoforms

6 September 2017

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Tuning of the Na,K-ATPase by the beta subunit

6 September 2017

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A RAB3GAP1 SINE Insertion in Alaskan Huskies with Polyneuropathy, Ocular Abnormalities, and Neuronal Vacuolation (POANV) Resembling Human Warburg Micro Syndrome 1 (WARBM1).

6 September 2017

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From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline

6 September 2017

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The genetics of ataxia: through the labyrinth of the Minotaur, looking for Ariadne's thread

6 September 2017

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Genes and genetic testing in hereditary ataxias.

6 September 2017

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Distinct neurological disorders with ATP1A3 mutations

6 September 2017

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Contributions of the Na⁺/K⁺-ATPase, NKCC1, and Kir4.1 to hippocampal K⁺ clearance and volume responses

6 September 2017

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Hereditary ataxias: overview

6 September 2017

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A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

6 September 2017

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Subunit isoform selectivity in assembly of Na,K-ATPase α-β heterodimers

6 September 2017

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The inherited ataxias: genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics

6 September 2017

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X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms.

6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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Functional roles of Na,K-ATPase subunits

6 September 2017

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Retinoschisin (RS1), the protein encoded by the X-linked retinoschisis gene, is anchored to the surface of retinal photoreceptor and bipolar cells through its interactions with a Na/K ATPase-SARM1 complex

6 September 2017

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6 September 2017

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A new paradigm of channelopathy in epilepsy syndromes: intracellular trafficking abnormality of channel molecules.

6 September 2017

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Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation

6 September 2017

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The functional role of beta subunits in oligomeric P-type ATPases

6 September 2017

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6 September 2017

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6 September 2017

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Biochemical and functional characterization of a novel neuron-glia adhesion molecule that is involved in neuronal migration

6 September 2017

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The adhesion molecule on glia (AMOG) is a homologue of the beta subunit of the Na,K-ATPase

6 September 2017

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6 September 2017

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The Na/K-ATPase is obligatory for membrane anchorage of retinoschisin, the protein involved in the pathogenesis of X-linked juvenile retinoschisis

6 September 2017

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Spongy degeneration with cerebellar ataxia in Malinois puppies: a hereditary autosomal recessive disorder?

14 September 2017

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Assembly with the Na,K-ATPase alpha(1) subunit is required for export of beta(1) and beta(2) subunits from the endoplasmic reticulum

14 September 2017

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Expression, activity and distribution of Na,K-ATPase subunits during in vitro neuronal induction

14 September 2017

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The novel homozygous KCNJ10 c.986T>C (p.(Leu329Pro)) variant is pathogenic for the SeSAME/EAST homologue in Malinois dogs.

25 September 2017

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Expression of the beta 1 and beta 2(AMOG) subunits of the Na,K-ATPase in neural tissues: cellular and developmental distribution patterns.

23 June 2018

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Spongy state (status spongiosus) and inhibition of Na, K-ATPase: A pathogenetic theory

23 June 2018

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Degeneration of neural cells in the central nervous system of mice deficient in the gene for the adhesion molecule on Glia, the beta 2 subunit of murine Na,K-ATPase

23 June 2018

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Functional characterization of beta isoforms of murine Na,K-ATPase. The adhesion molecule on glia (AMOG/beta 2), but not beta 1, promotes neurite outgrowth

23 June 2018

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23 June 2018

Canine hereditary ataxia

1 reference

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Expression patterns of AMOG in developing human cortex and malformations of cortical development

31 August 2018

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Hereditary cerebellar degeneration in Scottish terriers

31 August 2018

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31 August 2018

Identifiers

DOI

10.1534/G3.117.043018

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28620085%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28620085%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

PubMed publication ID

28620085

1 reference