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Search results 401 to 434 out of 434 for Scn8a

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0.021s

Type

Details

Score

Protein Domain

IPR008054 | Na_channel_a8su

Type:

Family

Description:

Voltage-dependent sodium channels are transmembrane (TM) proteins responsible for the depolarising phase of the action potential in mostelectrically excitable cells []. They may exist in 3 states []: the resting state, where the channel is closed; the activated state, where the channel is open; and the inactivated state, where the channel is closed and refractory to opening. Several different structurally and functionally distinct isoforms are found in mammals, coded for by a multigene family, these being responsible for the different types of sodium ion currents found in excitable tissues.There are nine pore-forming alpha subunit of voltage-gated sodium channels consisting of four membrane-embedded homologous domains (I-IV), each consisting of six α-helical segments (S1-S6), three cytoplasmic loops connecting the domains, and a cytoplasmic C-terminal tail. The S6 segments of the four domains form the inner surface of the pore, while the S4 segments bear clusters of basic residues that constitute the channel's voltage sensors [, , ].Sodium channel protein type 8 subunit alpha (SCN8A) encodes the voltage-gated Na+ channel alpha 8 subunit and is strongly expressed in Purkinje cells. Sodium currents are known to generatethe rising phase and the prolonged plateau phase of cerebellar purkinje cell action potentials. Experiments in mice with mutated SCN8A subunits suggest its involvement in the persistent sodium current responsible for the prolonged plateau phase []. SCN8A is abundantly expressed throughout the CNS and in the spinal cord. Mutations in this protein have been related to a number of neurological disorders, including paralysis, ataxia and dystonia [, , , ].This entry represents a conserved region found towards the N terminus of the protein, which defines the alpha 8 subunits and distinguishes them from other members of the voltage-gated Na+ channel superfamily. For entries containing other members of this superfamily see , , .

•

Strain

MGI:5528356 | C57BL/6J-Scn8a<m2Btlr>

Attribute String:

coisogenic, chemically induced mutation, mutant strain

•

Allele

Scnm1<s> | MGI:2674104

Name:	sodium channel modifier 1; susceptibility
Allele Type:	Spontaneous

•

Genotype

Symbol:	Scn8a/Scn8a
Background:	involves: C3H * C3HeB/Fe * C57BL/6
Zygosity:	ht
Has Mutant Allele:	true

•

Genotype

Symbol:	Scn8a/Scn8a
Background:	C57BL/6J-Scn8a
Zygosity:	hm
Has Mutant Allele:	true

•

Publication

29642012 | J:271309

First Author:	Scala F
Year:	2018
Journal:	Cell Rep
Title:	Environmental Enrichment and Social Isolation Mediate Neuroplasticity of Medium Spiny Neurons through the GSK3 Pathway.
Volume:	23
Issue:	2
Pages:	555-567

•

Genotype

Symbol:	Scn8a/Scn8a
Background:	involves: C3H * C57BL/6J
Zygosity:	ht
Has Mutant Allele:	true

•

Strain

MGI:2164555 | C57BL/6J-Scn8a<med-J>

Attribute String:

mutant strain

•

Strain

MGI:2161825 | B6C3Fe a/a-Krt71<Ca> Scn8a<med-J>/J

Attribute String:

mutant strain

•

Genotype

Symbol:	Scn8a/Scn8a Scnm1/Scnm1
Background:	involves: C57BL/6 * FVB * SJL * STOCK Krt71
Zygosity:	cx
Has Mutant Allele:	true

•

Genotype

Symbol:	Scn8a/Scn8a Scnm1/Scnm1
Background:	involves: C57BL/6 * STOCK Krt71
Zygosity:	cx
Has Mutant Allele:	true

•

Genotype

Symbol:	Scn8a/Scn8a
Background:	involves: STOCK Krt71
Zygosity:	hm
Has Mutant Allele:	true

•

Genotype

Symbol:	Scn8a/Scn8a
Background:	involves: C3H
Zygosity:	hm
Has Mutant Allele:	true

•

Publication

28842554 | J:252750

First Author:	Liu Y
Year:	2017
Journal:	Nat Commun
Title:	CDYL suppresses epileptogenesis in mice through repression of axonal Nav1.6 sodium channel expression.
Volume:	8
Issue:	1
Pages:	355

•

Publication

23090952 | J:205098

First Author:	Sun W
Year:	2013
Journal:	J Physiol
Title:	Aberrant sodium channel activity in the complex seizure disorder of Celf4 mutant mice.
Volume:	591
Issue:	1
Pages:	241-55

•

Publication

21458573 | J:177958

First Author:	Nutini M
Year:	2011
Journal:	Mol Cell Neurosci
Title:	Increased expression of the beta3 subunit of voltage-gated Na+ channels in the spinal cord of the SOD1G93A mouse.
Volume:	47
Issue:	2
Pages:	108-18

•

Publication

9562526 | J:47490

First Author:	Meisler MH
Year:	1997
Journal:	Ann Med
Title:	Ion channel mutations in mouse models of inherited neurological disease.
Volume:	29
Issue:	6
Pages:	569-74

•

Publication

22044765 | J:191394

First Author:	O'Brien JE
Year:	2012
Journal:	Mol Cell Neurosci
Title:	Rbfox proteins regulate alternative splicing of neuronal sodium channel SCN8A.
Volume:	49
Issue:	2
Pages:	120-6

•

Publication

- | J:147336

First Author:	Chang B
Year:	2007

Title:	Mouse models of RP


Pages:	149-161

•

Publication

29046322 | J:248369

First Author:	Follwaczny P
Year:	2017
Journal:	Dis Model Mech
Title:	Pumilio2-deficient mice show a predisposition for epilepsy.
Volume:	10
Issue:	11
Pages:	1333-1342

•

Protein

A0A0J9YTW4

Organism:	Mus musculus/domesticus
Length:	804
Fragment?:	true

•

Protein

A0A0J9YTW2

Organism:	Mus musculus/domesticus
Length:	539
Fragment?:	true

•

Protein

Q9WTU3

Organism:	Mus musculus/domesticus
Length:	1978
Fragment?:	false

•

Protein

F6U329

Organism:	Mus musculus/domesticus
Length:	1978
Fragment?:	false

•

Protein

A0A0R5RP22

Organism:	Mus musculus/domesticus
Length:	1937
Fragment?:	false

•

Protein

F7D6J5

Organism:	Mus musculus/domesticus
Length:	1988
Fragment?:	false

•

Protein

A0A0J9YUW5

Organism:	Mus musculus/domesticus
Length:	1937
Fragment?:	false

•

Protein

F7D6K4

Organism:	Mus musculus/domesticus
Length:	1978
Fragment?:	false

•

Publication

6209577 | -

First Author:	Noda M
Year:	1984
Journal:	Nature
Title:	Primary structure of Electrophorus electricus sodium channel deduced from cDNA sequence.
Volume:	312
Issue:	5990
Pages:	121-7

•

Publication

1317577 | -

First Author:	George AL Jr
Year:	1992
Journal:	Proc Natl Acad Sci U S A
Title:	Molecular cloning of an atypical voltage-gated sodium channel expressed in human heart and uterus: evidence for a distinct gene family.
Volume:	89
Issue:	11
Pages:	4893-7

•

Publication

21947499 | -

First Author:	Goldfarb M
Year:	2012
Journal:	Cell Mol Life Sci
Title:	Voltage-gated sodium channel-associated proteins and alternative mechanisms of inactivation and block.
Volume:	69
Issue:	7
Pages:	1067-76

•

Publication

27143702 | -

First Author:	Kaplan DI
Year:	2016
Journal:	Cold Spring Harb Perspect Med
Title:	Role of Sodium Channels in Epilepsy.
Volume:	6
Issue:	6

•

Publication

1323284 | -

First Author:	Sato C
Year:	1992
Journal:	Biochem Biophys Res Commun
Title:	Proposed tertiary structure of the sodium channel.
Volume:	186
Issue:	2
Pages:	1158-67

•

Publication

16332269 | J:156373

First Author:	Chang B
Year:	2005
Journal:	Vis Neurosci
Title:	Mouse models of ocular diseases.
Volume:	22
Issue:	5
Pages:	587-93

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