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Our data suggest that alterations of Ank3 expression and function may contribute to the effects of ELS on the development of psychiatric disorders.
Interaction of Ankyrin-G with EB1 (显示 MAPRE1 ELISA试剂盒) protein drives axon initial segment formation and neuronal polarity.
Ank3 is subject to complex alternative splicing regulation resulting in a diverse population of ankyrin-G isoforms in heart.
This study found that ankyrin-G regulates canonical Wnt (显示 WNT2 ELISA试剂盒) signaling by altering the subcellular localization and availability of beta-catenin (显示 CTNNB1 ELISA试剂盒) in proliferating cells.
The data support a model where ankyrinG-binding is required for preferential Nav1.6 (显示 SCN8A ELISA试剂盒) insertion into the axon initial segment plasma membrane during development.
CK2 (显示 CSNK2A1 ELISA试剂盒)-regulated IQJC-SCHIP-1 association with AnkG contributes to axon initial segment maintenance.
the structures of ANK (显示 ANKH ELISA试剂盒) repeats in complex with an inhibitory segment from the C-terminal regulatory domain and with a sodium channel Nav1.2 (显示 SCN2A ELISA试剂盒) peptide, are reported.
The giant exon of AnkG is required for assembly of the AIS (显示 AR ELISA试剂盒) and nodes of Ranvier and was a transformative innovation in evolution of the vertebrate nervous system that now is a potential target in neurodevelopmental disorders.
giant ankyrin-G promotes GABAergic synapse stability through opposing endocytosis of GABAA (显示 GABRg1 ELISA试剂盒) receptors, and requires a newly described interaction with GABARAP (显示 GABARAP ELISA试剂盒), a GABAA receptor-associated protein (显示 GABARAP ELISA试剂盒).
In embryonic mouse axons, AnkG is expressed at the beginning of axonogenesis at E9.5 and initially distributed homogeneously along the entire growing axon. From E11.5 the protein progressively becomes restricted to the proximal axon.
Ankyrin-G targets Nav1.5 (显示 SCN5A ELISA试剂盒) to the intercalated disc. Ank3 KO mice display conduction defects and arrhythmias.
A significant association was found between bipolar disorder and rs10994336 (OR=1.18; 95% confidence interval: 1.06-1.31; P=0.0027) as well as rs1938526 (OR=1.16; 95% confidence interval: 1.06-1.28; P=0.0016) in ANK3.
Thus ANK3's important association with human bipolar susceptibility may arise from imbalance between AnkG function in interneurons and principal cells and resultant excessive circuit sensitivity and output.
ANK3 expression is associated with androgen receptor (显示 AR ELISA试剂盒) stability, invasiveness, and lethal outcome in prostate cancer patients.
Nonsense mutation in ANK3 was identified in a patient with speech impairment, intellectual disability and autistic features.
Decreases in UF FA were observed among BD subjects carrying the ANK3 rs9804190 risk allele (T), compared to CC and T-carrier control subjects and BD CC homozygotes.
This study identified a SNP in ANK3 with a strong protective effect for Bipolar Disorder and Schizophrenia.
The haplotype analysis results suggest that ANK3 variants rs1938526 and rs10994336 may confer susceptibility for BD in the Korean population. Association analysis revealed a probable genetic difference between Korean and Caucasian populations in the degree of ANK3 involvement in BD pathogenesis.
The ankyrin 3 genotype may be associated with pathogenesis of age-related neurodegeneration, and, in part, of bipolar disorder.
Whole-exome sequencing in ASD (显示 ARSD ELISA试剂盒) patients from each family identified a second rare inherited genetic variant, affecting either the ANK3 genes encoding NLGN4X (显示 NLGN4X ELISA试剂盒) interacting proteins expressed in inhibitory or in excitatory synapses.
we investigated the association of CACNA1C (显示 CACNA1C ELISA试剂盒) and ANK3 with SZ using meta-analytic techniques.
Ankyrins are a family of proteins that are believed to link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact, and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats\; a central region with a highly conserved spectrin binding domain\; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 3 is an immunologically distinct gene product from ankyrins 1 and 2, and was originally found at the axonal initial segment and nodes of Ranvier of neurons in the central and peripheral nervous systems. Multiple transcript variants encoding different isoforms have been found for this gene.
, ankyrin 3, node of Ranvier (ankyrin G)
, ankyrin 3, node of Ranvier (ankyrin G)-like
, brain-specific ankyrin-G
, ankyrin G119