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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. Additionally we are shipping Junctophilin 3 Antibodies (76) and many more products for this protein.
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This study identified that abnormal CTG expansions in JPH3 in patient with Huntington Disease (show HTT Proteins).
The present study aimed to characterize the genetic basis of the Huntington disease (show HTT Proteins) 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 (show HTT Proteins)-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 (show HTT Proteins)-like 2 mouse model.
This study reveled the an antisense CAG repeat (show CELF3 Proteins) 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 (show HTT Proteins) gene revealed one case of SCA17 (show TBP Proteins) but did not disclose the presence of two other diseases with a similar clinical manifestation: DRPLA (show ATN1 Proteins) and HDL2.
HDL2 is caused by a pathological expansion of CAG/CTG triplets in exon 2A of the JPH3 gene.
Data revealed that six polymorphisms of F10, PITRM1, PCSK2, JPH3, MYO7B, and AKAP12 were related (P<0.05) to the prevalence of chronic kidney disease.
Motor discoordination in mutant mice lacking junctophilin type 3
Gene expression was slightly altered in the JP-3 and JP-4 (show JPH4 Proteins) 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