A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expression.

doi:10.1093/hmg/ddu352

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

Community

Back to search

Article

A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expression.

Human molecular genetics - 1 Dec 2014

Wilson William C, Hornig-Do Hue-Tran, Bruni Francesco, Chang Jeong Ho, Jourdain Alexis A, Martinou Jean-Claude, Falkenberg Maria, Spåhr Henrik, Larsson Nils-Göran, Lewis Richard J, Hewitt Lorraine, Baslé Arnaud, Cross Harold E, Tong Liang, Lebel Robert R, Crosby Andrew H, Chrzanowska-Lightowlers Zofia M A, Lightowlers Robert N

Abstract excerpt

The p.N478D missense mutation in human mitochondrial poly(A) polymerase (mtPAP) has previously been implicated in a form of spastic ataxia with optic atrophy. In this study, we have investigated fibroblast cell lines established from family members. The homozygous mutation resulted in the loss of polyadenylation of all mitochondrial transcripts assessed; however, oligoadenylation was retained. Interestingly, this...

Read the complete abstract on PubMed

Topics

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

Share to Mitochondrial Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Neoplasm Proteins

Share to Oxidative Phosphorylation

Share to Polynucleotide Adenylyltransferase

Share to Primary Cell Culture

Share to RNA-Binding Proteins

Share to RNA, Mitochondrial

Share to RNA Processing, Post-Transcriptional

Source

Open in PubMed Open full text

Identifiers

PMID: 25008111
DOI: 10.1093/hmg/ddu352
PMCID: PMC4222368

Genes

SLIRP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expression.PMID 25008111Read ↗

Defective mitochondrial mRNA maturation is associated with spastic ataxia.Semantic proximity Read ↗

Loss of MTPAP disrupts mitochondrial RNA processing causing upregulation of type I interferon signallingSemantic proximity Read ↗

Structure of mitochondrial poly(A) RNA polymerase reveals the structural basis for dimerization, ATP selectivity and the SPAX4 disease phenotype.Semantic proximity Read ↗

Implications of Poly(A) Tail Processing in Repeat Expansion DiseasesSemantic proximity Read ↗

Targeting of the cytosolic poly(A) binding protein PABPC1 to mitochondria causes mitochondrial translation inhibition.Semantic proximity Read ↗

Alternative translation initiation augments the human mitochondrial proteome.Semantic proximity Read ↗

The structure of the 5'-untranslated region of mammalian poly(A) polymerase-alpha mRNA suggests a mechanism of translational regulation.Semantic proximity Read ↗

Mono-allelic POLG expression resulting from nonsense-mediated decay and alternative splicing in a patient with Alpers syndrome.Semantic proximity Read ↗

A poly(A)-specific ribonuclease directly regulates the poly(A) status of mitochondrial mRNA in Arabidopsis.Semantic proximity Read ↗

Misregulated RNA processing in amyotrophic lateral sclerosisSemantic proximity Read ↗

Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency.Semantic proximity Read ↗

Transcription-coupled RNA surveillance in human genetic diseases caused by splice site mutations.Semantic proximity Read ↗

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