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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. Zusätzlich bieten wir Ihnen Junctophilin 3 Antikörper (79) und Junctophilin 3 Proteine (4) und viele weitere Produktgruppen zu diesem Protein an.
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 (zeige HTT ELISA Kits).
The present study aimed to characterize the genetic basis of the Huntington disease (zeige HTT ELISA Kits) 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 (zeige HTT ELISA Kits)-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 (zeige HTT ELISA Kits)-like 2 mouse model.
This study reveled the an antisense CAG repeat (zeige CELF3 ELISA Kits) 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 (zeige HTT ELISA Kits) gene revealed one case of SCA17 (zeige TBP ELISA Kits) but did not disclose the presence of two other diseases with a similar clinical manifestation: DRPLA (zeige ATN1 ELISA Kits) 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 (zeige JPH4 ELISA Kits) 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