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The c.103 + 1G > A mutation resulted in the loss of functional CISD2 protein in the two Italian Wolfram syndrome type 2 patients.
CISD2 was up-regulated in laryngeal squamous cell carcinoma
CISD2 could be an independent prognostic factor for PC and suggested that the CISD2/Wnt (show WNT2 Proteins)/beta-catenin (show CTNNB1 Proteins) pathway contributed to the proliferation of PC and EMT (show ITK Proteins)
the patient that we describe in this report with the c.215A > G missense CISD2 variant had the classical features of Wolfram syndrome type 1. The c.215A > G (p.Asn72Ser) variant does not induce CISD2 RNA mis (show AMH Proteins)-splicing or a reduction in CISD2 protein levels. Thus, we report a novel missense homozygous CISD2 mutation in a patient with clinical features that differ from previously reported Wolfram syndrome 2 case reports.
CISD2 exerts anti-apoptotic and anti-inflammatory effects in neural cells; and (2) curcumin can attenuate the downregulation of CISD2 in SCI and LPS (show IRF6 Proteins)-treated astrocytes.
CISD2 protein may serve as a candidate prognostic marker and a novel therapeutic target for hepatocellular carcinoma (HCC (show FAM126A Proteins)) and play an important role in promoting proliferation and enhanced progression of HCC (show FAM126A Proteins).
The findings suggested that CISD2 haplotype-tagging single nucleotide polymorphisms are not associated with Alzheimer's disease risk.
NAF-1 (show TNIP1 Proteins) is a BCL-2 (show BCL2 Proteins)-associated co-factor that targets BCL-2 (show BCL2 Proteins) for antagonism of the autophagy pathway at the endoplasmic reticulum.
NAF-1 (show TNIP1 Proteins) as a previously unidentified cell target of anti-diabetes thiazolidinedione drugs.
provides the first structural information, to our knowledge, for future targeting of the NAF-1 (show TNIP1 Proteins)-Bcl-2 (show BCL2 Proteins) complex in the regulation of apoptosis/autophagy in cancer biology
the data establish Tnip1 (show TNIP1 Proteins) as a critical regulator of IL-17 (show IL17A Proteins) biology and reveal a causal role of keratinocytes in the pathogenesis of psoriasis.
These results suggest that the thermosensitive FA-loaded hydrogel could rescue Cisd2(-/-) CM from oxidative stress-induced (show SQSTM1 Proteins) damage and may have potential applications in the future treatment of CVD.
These studies define a novel role for ABIN1 (show TNIP1 Proteins) dysfunction and NF-kappaB (show NFKB1 Proteins) in mediating glomerulonephritis through proinflammatory activation of podocytes.
Suppression of IRAK1 (show IRAK1 Proteins) or IRAK4 (show IRAK4 Proteins) Catalytic Activity, but Not Type 1 IFN Signaling, Prevents Lupus Nephritis in Mice Expressing a Ubiquitin Binding-Defective Mutant of ABIN1 (show TNIP1 Proteins)
NAF-1 (show TNIP1 Proteins), a BCL-2 (show BCL2 Proteins)-associated autophagy regulator, is required for homeostatic maintenance of skeletal muscle
Cisd2 deficiency impairs the activation of Wnt (show WNT2 Proteins)/beta-catenin (show CTNNB1 Proteins) signaling
These results suggest that the ABIN1 (show TNIP1 Proteins)-mediated hyperactivation of IKKs and MAPKs might mediate chronic inflammation and CVD development.
Results suggest that that Cisd2 plays an important role in intracellular Ca21 homeostasis, which is required for the differentiation and functioning of adipocytes as well as the regulation of glucose homeostasis in mice.
Miner1 is a redox protein that resides in the ER and that regulates the UPR and mitochondrial function.
studies link ABIN-1 (show TNIP1 Proteins) with IL-23 (show IL23A Proteins) and IL-17 (show IL17A Proteins), and they provide cellular and molecular mechanisms by which ABIN-1 (show TNIP1 Proteins) regulates susceptibility to psoriasis.
The protein encoded by this gene is a zinc finger protein that localizes to the endoplasmic reticulum. The encoded protein binds an iron/sulfur cluster and may be involved in calcium homeostasis. Defects in this gene are a cause of Wolfram syndrome 2.
CDGSH iron-sulfur domain-containing protein 2A
, CDGSH iron sulfur domain-containing protein 2A
, CDGSH iron sulfur domain-containing protein 2-A
, zinc finger, CDGSH-type domain 2
, CDGSH iron-sulfur domain-containing protein 2
, CDGSH iron sulfur domain-containing protein 2
, CDGSH iron sulfur domain-containing protein 2-B
, CDGSH iron sulfur domain-containing protein 2B
, CDGSH iron-sulfur domain-containing protein 2B
, endoplasmic reticulum intermembrane small protein
, mitoNEET related 1
, mitoNEET-related 1 protein
, nutrient-deprivation autophagy factor-1
, CDGSH iron sulfur domain 2
, nervous system over-expressed protein 70
, nervous system overexpressed protein 70
, H/ACA ribonucleoprotein complex non-core subunit NAF1
, nuclear assembly factor 1 homolog
, A20-binding inhibitor of NF-kappa B activation
, Nef-associated factor 1
, TNFAIP3-interacting protein 1
, virion-associated nuclear shuttling protein