Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Acute infantile liver failure due to mutations in the TRMU gene.

American journal of human genetics - 1 Sept 2009

Zeharia Avraham, Shaag Avraham, Pappo Orit, Mager-Heckel Anne-Marie, Saada Ann, Beinat Marine, Karicheva Olga, Mandel Hanna, Ofek Noa, Segel Reeval, Marom Daphna, Rötig Agnes, Tarassov Ivan, Elpeleg Orly

Abstract excerpt

Acute liver failure in infancy accompanied by lactic acidemia was previously shown to result from mtDNA depletion. We report on 13 unrelated infants who presented with acute liver failure and lactic acidemia with normal mtDNA content. Four died during the acute episodes, and the survivors never h...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Fibroblasts
Share to Liver
Share to Liver Failure, Acute

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mitochondrial Proteins

Share to Protein Biosynthesis

Share to RNA, Transfer

Share to Sulfhydryl Compounds

Share to tRNA Methyltransferases

Source

Open in PubMed Open full text

Identifiers

PMID: 19732863
DOI: 10.1016/j.ajhg.2009.08.004
PMCID: PMC2771591

Genes

TRMU

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19732863-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Acute infantile liver failure due to mutations in the TRMU gene.PMID 19732863Read ↗

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.Semantic proximity Read ↗

Perioperative Management of Liver Retransplant in an Adult With a History of TRMU Alteration.Semantic proximity Read ↗

Reversible infantile mitochondrial diseases.Semantic proximity Read ↗

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variantsSemantic proximity Read ↗

Whole-exome sequencing identified novel compound heterozygous variants in a Chinese neonate with liver failure and review of literature.Semantic proximity Read ↗

The 2-thiouridylase function of the human MTU1 (TRMU) enzyme is dispensable for mitochondrial translation.Semantic proximity Read ↗

Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency.Semantic proximity Read ↗

Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations.Semantic proximity Read ↗

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency.Semantic proximity Read ↗

Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease.Semantic proximity Read ↗

[TRMU MUTATIONS - REVERSIBLE INFANTILE LIVER FAILURE OR MULTISYSTEM DISORDER?]Semantic proximity Read ↗

Human TRMU encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase is a putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutations.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.