CHCHD2 Antibody

1. two genetic CHCHD10 disease variants, G66V and P80L, in the mitochondria exhibit faulty interactions with MNRR1 and COX, reducing respiration and increasing reactive oxygen species (ROS), and in the nucleus abrogating transcriptional repression of ORE-containing genes. PMID: 29540477
2. It does not play a major role in pathogenesis of mitochondrial myopathy. PMID: 29519717
3. our study suggests that mutations in the CHCHD2 gene are not likely to be a common cause of Parkinson's disease in Chinese Han population PMID: 27118487
4. The results of this study suggest that CHCHD2 exonic variants are rare among Chinese patients with Parkinson's disease. PMID: 27269965
5. Its mutation is not arelevant cause of Parkinson's disease in Italian population. PMID: 28108040
6. CHCHD2 gene may not play a major role in our familial Chinese Han essential-tremor and Parkinson's disease patients. PMID: 27814991
7. CHCHD2 is probably not involved in the etiopathogenesis of PD in a southern Spanish population. PMID: 27839904
8. CHCHD2 mutations might not be the common cause of PD in South Italy. PMID: 27839905
9. We examined the association of rs10043 and Pro2Leu variants in CHCHD2 with Parkinson's disease. Our study shows a twofold increase of the Pro2Leu variant in CHCHD2 in Parkinson's disease and meta-analysis of published studies suggests that this may be a risk factor for Parkinson's disease in Asian populations PMID: 27626775
10. CHCHD2 mutations may be rare in Chinese familial essential tremor patients PMID: 27717833
11. A family with Charcot-Marie-Tooth disease type 1A with an exaggerated phenotype harbors a Q112H mutation in MNRR1, located in a domain that is necessary for transcriptional activation by MNRR1 PMID: 27913209
12. CHCHD2 primes neuroectodermal differentiation of human embryonic stem cell and Human induced pluripotent stem cell by binding and sequestering SMAD4 to the mitochondria, resulting in suppression of the activity of the TGFbeta signaling pathway. PMID: 27810911
13. The results of this study suggest that genetic variants of CHCHD2 may not be a frequent cause of MSA or ALS in our Chinese population. PMID: 27538669
14. Genetic variants of CHCHD2 do not play a major role in Taiwanese patients with Parkinson disease. PMID: 26725463
15. Autosomal dominant Parkinson's disease can be caused by CHCHD2 mutations and show that the Pro2Leu variant in CHCHD2 may be a risk factor for sporadic PD in Chinese populations. PMID: 26705026
16. CHCHD2 mutations may not account for PD in Canadian patients. PMID: 26639156
17. CHCHD2 mutations might not be a common cause of PD in Chinese familial cases. PMID: 26343503
18. identified a nonsense variant in exon 3 of CHCHD2 (NM_016139, c.376C > T, p.Gln126X; figure, B) in one German patient with Parkinson disease PMID: 26764027
19. CHCHD2 influences mitochondrial and nuclear functions and contributes to the cancer phenotype associated with 7p11.2 amplification in non-small cell lung carcinoma . PMID: 25784717
20. The presence of any rare variants in CHCHD2 were more common in Lewy body disease patients with Parkinson's disease compared to controls. PMID: 26561290
21. The results of the present study indicated that CHCHD2 may be a novel biomarker for hepatocellular carcinoma and that CREB is important in the transcriptional activation of CHCHD2 by HCV NS2. PMID: 25625293
22. findings establish CHCHD2, a previously uncharacterized small mitochondrial protein with no known homology to the Bcl-2 family, as one of the negative regulators of mitochondria-mediated apoptosis. PMID: 25476776
23. MNRR1 (formerly CHCHD2) is imported to the mitochondrial intermembrane space by a Mia40-mediated pathway, where it binds to cytochrome c oxidase (COX). PMID: 25315652
24. CHCHD2 missense mutations are associated with autosomal dominant Parkinson's disease. PMID: 25662902
25. Silencing CHCHD2 reduces cellular oxygen consumption and disrupts the assembly and activity of Cytochrome C Oxidase. PMID: 19680543

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HGNC: 21645

OMIM: 616244

KEGG: hsa:51142

STRING: 9606.ENSP00000378812

UniGene: Hs.389996