Log in to save to my catalogue

Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic acidur...

Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic acidur...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1827884600

Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria

About this item

Full title

Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria

Publisher

England: BMJ Publishing Group LTD

Journal title

Journal of medical genetics, 2016-10, Vol.53 (10), p.690-696

Language

English

Formats

Publication information

Publisher

England: BMJ Publishing Group LTD

More information

Scope and Contents

Contents

BackgroundCell survival critically depends on the integrity of mitochondria, which play a pivotal role during apoptosis. Extensive mitochondrial damage promotes release of pro-apoptotic factors from the intermembrane space of mitochondria. Released mitochondrial proteins include Smac/DIABLO and HTRA2/Omi, which inhibit the cytosolic E3 ubiquitin li...

Alternative Titles

Full title

Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_1827884600

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1827884600

Other Identifiers

ISSN

0022-2593

E-ISSN

1468-6244

DOI

10.1136/jmedgenet-2016-103922

How to access this item