Skip to main content
Log in

News and views

  • Highlights
  • Published:
Journal of Inherited Metabolic Disease

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

References

  • Deutschmann AJ, Amberger A, Zavadil C et al (2014) Mutation or knock-down of 17beta-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts. Hum Mol Genet 23:3618–3628

    Article  CAS  PubMed  Google Scholar 

  • Holzmann J, Frank P, Loffler E, Bennett KL, Gerner C, Rossmanith W (2008) RNase P without RNA: identification and functional reconstitution of the human mitochondrial tRNA processing enzyme. Cell 135:462–474

    Article  CAS  PubMed  Google Scholar 

  • Kang Y, Stroud DA, Baker MJ et al (2017) Sengers syndrome-associated mitochondrial acylglycerol kinase is a subunit of the human TIM22 protein import complex. Mol Cell 67:457–470

    Article  CAS  PubMed  Google Scholar 

  • Mayr JA, Haack TB, Graf E et al (2012) Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. Am J Hum Genet 90:314–320

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Ofman R, Ruiter JP, Feenstra M et al (2003) 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene. Am J Hum Genet 72:1300–1307

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Vukotic M, Nolte H, Konig T et al (2017) Acylglycerol kinase mutated in Sengers syndrome is a subunit of the TIM22 protein Translocase in mitochondria. Mol Cell 67:471–483

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Sander M. Houten.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Houten, S.M. News and views. J Inherit Metab Dis 40, 755–756 (2017). https://doi.org/10.1007/s10545-017-0090-y

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10545-017-0090-y

Navigation