Defective mitochondrial RNA processing due to PNPT1 variants causes Leigh syndrome

Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease

(2016) Ahmad Alodaib et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Leigh syndrome: One disorder, more than 75 monogenic causes

(2015) Nicole J. Lake et al.   ANNALS OF NEUROLOGY

Leigh Syndrome

(2015) Nicole J. Lake et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Mitochondrial RNA Granules Are Centers for Posttranscriptional RNA Processing and Ribosome Biogenesis

(2015) Hana Antonicka et al.   Cell Reports

Proteomic Mapping of Mitochondria in Living Cells via Spatially Restricted Enzymatic Tagging

(2013) H.-W. Rhee et al.   SCIENCE

Mutation in PNPT1 , which Encodes a Polyribonucleotide Nucleotidyltransferase, Impairs RNA Import into Mitochondria and Causes Respiratory-Chain Deficiency

(2012) Vanessa Vedrenne et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Mutation in PNPT1 , Encoding Mitochondrial-RNA-Import Protein PNPase, Causes Hereditary Hearing Loss

(2012) Simon von Ameln et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Crystal structure of human polynucleotide phosphorylase: insights into its domain function in RNA binding and degradation

(2012) C. L. Lin et al.   NUCLEIC ACIDS RESEARCH

LRPPRC/SLIRP suppresses PNPase-mediated mRNA decay and promotes polyadenylation in human mitochondria

(2012) Takeshi Chujo et al.   NUCLEIC ACIDS RESEARCH

Human mitochondrial RNA decay mediated by PNPase–hSuv3 complex takes place in distinct foci

(2012) Lukasz S. Borowski et al.   NUCLEIC ACIDS RESEARCH

PNPASE Regulates RNA Import into Mitochondria

(2010) Geng Wang et al.   CELL

A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

(2008) David J. Pagliarini et al.   CELL

RNase P without RNA: Identification and Functional Reconstitution of the Human Mitochondrial tRNA Processing Enzyme

(2008) Johann Holzmann et al.   CELL