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Article

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

Journal of medical genetics - 1 Oct 2016

Mandel Hanna, Saita Shotaro, Edvardson Simon, Jalas Chaim, Shaag Avraham, Goldsher Dorit, Vlodavsky Euvgeni, Langer Thomas, Elpeleg Orly

Abstract excerpt

BACKGROUND: Cell 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 ligase XIAP and other inhibitors of apoptosis proteins. AIMS: Here...

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Source

Identifiers

PMID: 27208207
DOI: 10.1136/jmedgenet-2016-103922

Genes

HTRA2
DIABLO
XIAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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