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Comment
. 2017 May 2;114(18):E3590-E3591.
doi: 10.1073/pnas.1701212114. Epub 2017 Apr 11.

ACOX2 deficiency in primary malignant cardiac tumors

Xiangyu Zhou  1   2 , Hongyan Wang  3   2
Affiliations
Comment

ACOX2 deficiency in primary malignant cardiac tumors

Xiangyu Zhou et al. Proc Natl Acad Sci U S A. .
No abstract available

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Fig. 1.
Fig. 1.
ACOX2 deficiency in a patient with a primary malignant cardiac tumor. (A) Sanger sequencing of ACOX2 (c.1226G > A, p.Arg409His) using blood samples from patient 1. (B) Sequence alignment of ACOX2 p.Arg409His (National Center for Biotechnology Information reference sequences are indicated). C. elegans, Caenorhabditis elegans. (C) ACOX2 and GAPDH were amplified from the cDNA of adjacent normal and tumor tissue from patient 1 as indicated. GAPDH served as a positive control to demonstrate the reduction of ACOX2 expression in tumor tissues. (D) ACOX2 (R409H) affected normal dimer formation. HEK293T cells were transfected with His-tagged wild-type or (R409H) ACOX2 for recombinant overexpression. A 1:100 dilution of a protein cross-linker (PC) was added to the RIPA buffer before cell lysis. Subsequently, anti-His immunoprecipitation and anti-ACOX2 immunoblotting were performed following standard procedures. A 75-KDa band was indicative of ACOX2-His recombinant protein. After PC treatment, a 160-KDa band was generated, corresponding to an ACOX2 dimer. This band was significantly decreased in cells transfected with mutant ACOX2.
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References

    1. Vilarinho S, et al. ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment. Proc Natl Acad Sci USA. 2016;113:11289–11293. - PMC - PubMed
    1. Monte MJ, et al. ACOX2 deficiency: An inborn error of bile acid synthesis identified in an adolescent with persistent hypertransaminasemia. J Hepatol. 2017;66:581–588. - PubMed
    1. Johansson A, et al. Identification of ACOX2 as a shared genetic risk factor for preeclampsia and cardiovascular disease. Eur J Hum Genet. 2011;19:796–800. - PMC - PubMed
    1. Bjørklund SS, et al. Expression of an estrogen-regulated variant transcript of the peroxisomal branched chain fatty acid oxidase ACOX2 in breast carcinomas. BMC Cancer. 2015;15:524. - PMC - PubMed

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