Multiple Transcripts of the Human Cu,Zn Superoxide Dismutase Gene

Hirano, Minoru; Hung, Wu Yen; Cole, Natalie; Azim, Anser C.; Deng, Han Xiang; Siddique, Teepu

doi:10.1006/bbrc.2000.3427

Cited by 26 publications

(9 citation statements)

References 19 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…14,15 Furthermore, these transcripts containing a premature termination codon are predicted to encode a protein truncated after exon 1; however, our result (figure 4) and two independent studies using different antibodies 14,15 failed to detect such proteins, suggesting either its rapid degradation or the absence of translation. It was reported that nonsense-mediated mRNA decay underlies the clearance of SOD1 mRNA with a premature termination codon in exons 1-4, but not in exon 5.…”

Section: 12contrasting

confidence: 64%

A mechanism for low penetrance in an ALS family with a novel SOD1 deletion

Zinman¹,

N.²,

Sato³

et al. 2009

Neurology

View full text Add to dashboard Cite

show abstract

Section: 12contrasting

confidence: 64%

A mechanism for low penetrance in an ALS family with a novel SOD1 deletion

Zinman¹,

N.²,

Sato³

et al. 2009

Neurology

View full text Add to dashboard Cite

show abstract

“…CLK-1 phosphorylates SR proteins to regulate pre-mRNA splicing, specifically influencing the activity of SR protein splicing factors [23]. It was possible that CLK-1 regulates SOD1 through alternate splicing, at least five alternatively spliced forms of human SOD1 have been reported [40, 41], but we found no evidence of that in our studies. Examination of Drosophila genomic sequence and EST data suggest that the Drosophila SOD1 and SOD2 genes are not alternatively spliced.…”

Section: Discussioncontrasting

confidence: 73%

Superoxide dismutase is regulated by LAMMER kinase in Drosophila and human cells

James

Staatz

Wilkinson

et al. 2009

Free Radical Biology and Medicine

View full text Add to dashboard Cite

LAMMER kinases (also know as Cdc-2-like or CLKs) are a family of dual specificity serine/ threonine protein kinases that are found in all sequenced eukaryotic genomes. In the fission yeast, S. pombe, the LAMMER kinase gene, Lkh1, positively regulates the expression of the antioxidant defense genes, superoxide dismutase1 (sod1+, CuZn-SOD) and catalase (ctt1+, CAT). We have shown that mutations in the Drosophila LAMMER kinase gene, Darkener of apricot (Doa), protect against the decrease in life span caused by the reactive oxygen species (ROS) generator paraquat, and at the same time show an increase in cytoplasmic (CuZn-Sod or SOD1) and mitochondrial superoxide dismutase (Mn-Sod or SOD2) protein levels and activity. The siRNA mediated knock down of the human LAMMER kinase gene, CLK-1, in HeLa and MCF-7 human cell lines leads to an increase in both SOD1 activity and mRNA transcript levels. These data suggest that SOD1 is negatively regulated by LAMMER kinases in Drosophila and human cell lines and that this regulation may be conserved during evolution.

show abstract

“…The reduced amount of transcripts with frameshift mutations is well known as nonsense-mediated mRNA decay [12]. Accordingly, our RNA analyses revealed that a normal-size transcript with the newly identified deletion mutation (c.194delC) was not detected.…”

Section: Discussionmentioning

confidence: 73%

Neutral Lipid Storage Disease Associated with the <b><i>PNPLA2</i></b> Gene: Case Report and Literature Review

et al. 2020

View full text Add to dashboard Cite

Mutations in the PNPLA2 gene cause neutral lipid storage disease with myopathy (NLSDM) or triglyceride deposit cardiomyovasculopathy. We report a detailed case study of a 53-year-old man with NLSDM. The PNPLA2 gene was analyzed according to the reported method. We summarized the clinical, laboratory, and genetic information of 56 patients, including our patient and 55 other reported patients with homozygous or compound heterozygous mutations in the PNPLA2 gene. We found a novel homozygous mutation (c.194delC) in the PNPLA2 gene that resulted in frameshift. The patient suffered from normal-tension glaucoma and pulmonary cysts, symptoms that are relatively common in the elderly but were not previously reported for this disease. Our summary confirmed that Jordan's anomaly, polymorphonuclear leukocytes with lipid accumulation, was the most consistent finding of this disease. Because this disease is potentially treatable, our results may help rapid and correct diagnosis.

show abstract

Multiple Transcripts of the Human Cu,Zn Superoxide Dismutase Gene

Cited by 26 publications

References 19 publications

A mechanism for low penetrance in an ALS family with a novel SOD1 deletion

A mechanism for low penetrance in an ALS family with a novel SOD1 deletion

Superoxide dismutase is regulated by LAMMER kinase in Drosophila and human cells

Neutral Lipid Storage Disease Associated with the <b><i>PNPLA2</i></b> Gene: Case Report and Literature Review

Contact Info

Product

Resources

About