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Article

Phenotypic expression of maternally inherited deafness is affected by RNA modification and cytoplasmic ribosomal proteins.

Molecular genetics and metabolism - 1 Aug 2009

Bykhovskaya Yelena, Mengesha Emebet, Fischel-Ghodsian Nathan

Abstract excerpt

The homoplasmic mitochondrial A1555G mutation in the 12S rRNA gene leads to a mitochondrial translation disorder associated with deafness. The absence of disease in non-cochlear tissues in all patients, and in the cochlea in some patients, is not well understood. We used a system-based approach, including whole genome expression and biological function analysis, to elucidate the pathways underlying tissue...

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Identifiers

PMID: 19482502
DOI: 10.1016/j.ymgme.2009.05.003
PMCID: PMC2728627

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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