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Article

Defective mitochondrial mRNA maturation is associated with spastic ataxia.

American journal of human genetics - 12 Nov 2010

Crosby Andrew H, Patel Heema, Chioza Barry A, Proukakis Christos, Gurtz Kay, Patton Michael A, Sharifi Reza, Harlalka Gaurav, Simpson Michael A, Dick Katherine, Reed Johanna A, Al-Memar Ali, Chrzanowska-Lightowlers Zofia M A, Cross Harold E, Lightowlers Robert N

Abstract excerpt

In human mitochondria, polyadenylation of mRNA, undertaken by the nuclear-encoded mitochondrial poly(A) RNA polymerase, is essential for maintaining mitochondrial gene expression. Our molecular investigation of an autosomal-recessive spastic ataxia with optic atrophy, present among the Old Order...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 20970105
DOI: 10.1016/j.ajhg.2010.09.013
PMCID: PMC2978972

Genes

MTPAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-20970105-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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