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Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. 再加上，我们可以发Junctophilin 3 抗体 (78) 和 Junctophilin 3 蛋白 (6)和数多这个蛋白质的别的产品。
The expression of JPH isoforms was examined in human and mouse pancreatic tissues, and JPH3 expression was found in both the beta cells.
This study identified that abnormal CTG expansions in JPH3 in patient with Huntington Disease (显示 HTT ELISA试剂盒).
The present study aimed to characterize the genetic basis of the Huntington disease (显示 HTT ELISA试剂盒) phenotype in South Africans and to investigate the possible origin of the JPH3 mutation.
JPH3 mutations should be considered in the differential diagnosis of early-onset dementia and hypokinetic-rigid syndromes in individuals of African descent.
The pathogenic mechanism of Huntington disease (显示 HTT ELISA试剂盒)-like 2 is multifactorial, involving both a toxic gain of function of JPH3 RNA transcripts and a toxic loss of JPH3 expression in an experimental Huntington disease (显示 HTT ELISA试剂盒)-like 2 mouse model.
This study reveled the an antisense CAG repeat (显示 CELF3 ELISA试剂盒) transcript at JPH3 locus mediates expanded polyglutamine protein toxicity in Huntington's disease-like 2 mice.
CAG/CTG repeat expansions at the Huntington's disease (HD)-like 2 locus have been identified in the gene encoding junctophilin-3 in an HD patient who carried an allele with 50 uninterrupted repeats.
This report on a South African family that presented with progressive dementia and a movement disorder affecting numerous family members. Genotyping of the JPH3 CTG repeat revealed pathogenic expansions in three affected individuals.
244 Patients with the diagnosis of Huntington's Disease and without mutation of the IT15 (显示 HTT ELISA试剂盒) gene revealed one case of SCA17 (显示 TBP ELISA试剂盒) but did not disclose the presence of two other diseases with a similar clinical manifestation: DRPLA (显示 ATN1 ELISA试剂盒) and HDL2.
HDL2 is caused by a pathological expansion of CAG/CTG triplets in exon 2A of the JPH3 gene.
Motor discoordination in mutant mice lacking junctophilin type 3
Gene expression was slightly altered in the JP-3 and JP-4 (显示 JPH4 ELISA试剂盒) Knockout cerebellum.
Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. CAG/CTG repeat expansions at the Huntington's disease (HD)-like 2 locus have been identified in this gene, which is a member of the junctophilin gene family. Alternatively spliced transcript variants have been described for this gene.
junctophilin type 3
, trinucleotide repeat containing 22
, junctophilin 3