|
Cardiac Arrest
|
0.270 |
AlteredExpression
|
disease |
BEFREE |
In addition, we discuss other SCAs whose pathogenesis may be linked to aberrant activation of IP3R-mediated Ca(2+) signaling.
|
26827887 |
2016 |
|
Cardiac Arrest
|
0.270 |
GeneticVariation
|
disease |
BEFREE |
In support of this, signaling events that are initiated from or lead to aberrant Ca<sup>2+</sup> release from the type 1 inositol 1,4,5-trisphosphate receptor (IP<sub>3</sub>R1), which is highly expressed in cerebellar PCs, seem to be closely associated with the pathogenesis of several SCA types.
|
29777722 |
2018 |
|
Cardiac Arrest
|
0.270 |
GeneticVariation
|
disease |
BEFREE |
To clarify the prevalence of SCA15 in Japan, we designed four sets of probes and primers in different regions of ITPR1 and performed TaqMan PCR assay to search for gene deletions in 226 index SCA patients excluded for repeat expansion disorders.
|
22318346 |
2012 |
|
Cardiac Arrest
|
0.270 |
GeneticVariation
|
disease |
BEFREE |
Despite the difference in phenotypes, there remains a possibility that the causative gene for these Japanese SCA is allelic to SCA15.
|
14981189 |
2004 |
|
Huntington Disease
|
0.240 |
Biomarker
|
disease |
BEFREE |
Based on these results I propose that IP(3)R and other Ca(2+) signaling proteins should be considered as potential therapeutic targets for treatment of HD and SCAs.
|
21210219 |
2011 |
|
Huntington Disease
|
0.240 |
Biomarker
|
disease |
BEFREE |
Modification of Gln2746 and IP3R1 function was observed in Huntington disease models, suggesting a pathological role of this modification in the neurodegenerative disease.
|
25201980 |
2014 |
|
Huntington Disease
|
0.240 |
Biomarker
|
disease |
BEFREE |
Experimental evidence indicates that (1) Ca2+ homeostasis is abnormal in mitochondria isolated from lymphoblasts of HD patients and from brains of the YAC72 HD mouse model; (2) Httexp leads to potentiation of NR1/NR2B NMDA receptor activity in heterologous expression systems and in MSN from YAC72 HD mouse model; and (3) Httexp binds to the type 1 inositol 1,4,5-trisphosphate receptor (InsP3R1) carboxy-terminus and causes sensitization of InsP3R1 to activation by InsP3 in planar lipid bilayers and in MSN.
|
15336977 |
2004 |
|
Huntington Disease
|
0.240 |
Biomarker
|
disease |
BEFREE |
Our results demonstrate an importance of InsP(3)R1-Htt(exp) association for HD pathogenesis and suggested that InsP(3)R1 is a potential therapeutic target for HD.
|
19193873 |
2009 |
|
Asthma
|
0.210 |
Biomarker
|
disease |
BEFREE |
These results imply that SUF exerts anti-inflammatory function through the T2R10/IP3R1/NFAT1 dependent signaling pathway, and may warrant further evaluation as a possible agent for the treatment of asthma.
|
27916586 |
2017 |
|
Ataxia
|
0.190 |
GeneticVariation
|
phenotype |
BEFREE |
Spinocerebellar ataxia type 15 (SCA15), first described in 2001, is a slowly progressive, relatively pure dominantly inherited ataxia.
|
21827915 |
2012 |
|
Ataxia
|
0.190 |
GeneticVariation
|
phenotype |
BEFREE |
In addition, homozygous missense mutations in carbonic anhydrase-related protein VIII (CARP), which suppresses the ability of IP3 to bind to IP3R1, cause a recessively inherited ataxia with mild cognitive impairment with/without quadrupedal gait.
|
26827887 |
2016 |
|
Ataxia
|
0.190 |
GeneticVariation
|
phenotype |
BEFREE |
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia.
|
28659154 |
2017 |
|
Ataxia
|
0.190 |
GeneticVariation
|
phenotype |
BEFREE |
Thus, the itpr1-/- and opt ITPR1 mouse mutants, which each result in ataxia, are not allelic to the human SCA15 locus.
|
12828938 |
2003 |
|
Ataxia
|
0.190 |
GeneticVariation
|
phenotype |
BEFREE |
Because ataxia is a prominent feature in Itpr1 mutant mice, we performed a series of experiments to test the hypothesis that mutation at ITPR1 may be the cause of SCA15.
|
17590087 |
2007 |
|
Ataxia
|
0.190 |
Biomarker
|
phenotype |
BEFREE |
Our study expands the mutational spectrum of ITPR1-related congenital ataxia and indicates that ITPR1 gene screening should be implemented in this subgroup of ataxias.
|
27062503 |
2017 |
|
Ataxia
|
0.190 |
GeneticVariation
|
phenotype |
BEFREE |
De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function.
|
29925855 |
2018 |
|
Ataxia
|
0.190 |
GeneticVariation
|
phenotype |
BEFREE |
Dominant or recessive ITPR1 mutations have been recently associated with this form of syndromic ataxia.
|
28698159 |
2017 |
|
Ataxia
|
0.190 |
GeneticVariation
|
phenotype |
BEFREE |
SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia.
|
21555639 |
2011 |
|
Malignant neoplasm of breast
|
0.140 |
Biomarker
|
disease |
BEFREE |
Notably, disrupting Nrh/IP3R complexes by BH4 mimetic peptides was sufficient to inhibit the growth of breast cancer cells <i>in vitro</i> and <i>in vivo</i> Taken together, our results highlighted Nrh as a novel prognostic marker and a candidate therapeutic target for late stage breast cancers that may be addicted to Nrh.<b>Significance:</b> These findings offer a comprehensive molecular model for the activity of Nrh/BCL2L10, a little studied antiapoptotic molecule, prognostic marker, and candidate drug target in breast cancer.<i></i>.
|
29330143 |
2018 |
|
Malignant neoplasm of breast
|
0.140 |
Biomarker
|
disease |
BEFREE |
Both, inositol 1,4,5-trisphosphate receptor type 1 (IP<sub>3</sub>R1) and type 1 sodium calcium exchanger (NCX1) were upregulated due to nifedipine in DLD1 and A2780 cells, but not in breast cancer MDA-MB-231 and JIMT1 cells.
|
31706846 |
2020 |
|
Malignant neoplasm of breast
|
0.140 |
Biomarker
|
disease |
BEFREE |
We identified a set of eight autophagy genes (BCL2, BIRC5, EIF4EBP1, ERO1L, FOS, GAPDH, ITPR1 and VEGFA) that were significantly associated with overall survival in breast cancer.
|
25620657 |
2016 |
|
Malignant neoplasm of breast
|
0.140 |
AlteredExpression
|
disease |
BEFREE |
We used 1H NMR to identify metabolites in the serum of breast cancer patients (n = 27) and performed Real-time Polymerase Chain Reaction analysis for quantifying the expression of IP3R type 3 and type 2 in tissues from breast cancer patients (n = 40).
|
28072864 |
2017 |
|
Breast Carcinoma
|
0.140 |
Biomarker
|
disease |
BEFREE |
We identified a set of eight autophagy genes (BCL2, BIRC5, EIF4EBP1, ERO1L, FOS, GAPDH, ITPR1 and VEGFA) that were significantly associated with overall survival in breast cancer.
|
25620657 |
2016 |
|
Breast Carcinoma
|
0.140 |
Biomarker
|
disease |
BEFREE |
Both, inositol 1,4,5-trisphosphate receptor type 1 (IP<sub>3</sub>R1) and type 1 sodium calcium exchanger (NCX1) were upregulated due to nifedipine in DLD1 and A2780 cells, but not in breast cancer MDA-MB-231 and JIMT1 cells.
|
31706846 |
2020 |
|
Breast Carcinoma
|
0.140 |
Biomarker
|
disease |
BEFREE |
Notably, disrupting Nrh/IP3R complexes by BH4 mimetic peptides was sufficient to inhibit the growth of breast cancer cells <i>in vitro</i> and <i>in vivo</i> Taken together, our results highlighted Nrh as a novel prognostic marker and a candidate therapeutic target for late stage breast cancers that may be addicted to Nrh.<b>Significance:</b> These findings offer a comprehensive molecular model for the activity of Nrh/BCL2L10, a little studied antiapoptotic molecule, prognostic marker, and candidate drug target in breast cancer.<i></i>.
|
29330143 |
2018 |