Yeast model analysis of novel polymerase gamma variants found in patients with autosomal recessive mitochondrial disease

DNA polymerase γ and disease: what we have learned from yeast

(2015) Tiziana Lodi et al.   Frontiers in Genetics

Mapping 136 pathogenic mutations into functional modules in human DNA polymerase γ establishes predictive genotype–phenotype correlations for the complete spectrum of POLG syndromes

(2014) Gregory A. Farnum et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Mitochondrial iron–sulfur protein biogenesis and human disease

(2014) Oliver Stehling et al.   BIOCHIMIE

Yeast Cells Expressing the Human Mitochondrial DNA Polymerase Reveal Correlations between Polymerase Fidelity and Human Disease Progression

(2014) Yufeng Qian et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mitochondrial dynamics and inheritance during cell division, development and disease

(2014) Prashant Mishra et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

What cost mitochondria? The maintenance of functional mitochondrial DNA within and across generations

(2014) D. K. Aanen et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

The road to rack and ruin: selecting deleterious mitochondrial DNA variants

(2014) I. J. Holt et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

Mitochondria: from cell death executioners to regulators of cell differentiation

(2014) Atsuko Kasahara et al.   TRENDS IN CELL BIOLOGY

MMS Exposure Promotes Increased MtDNA Mutagenesis in the Presence of Replication-Defective Disease-Associated DNA Polymerase γ Variants

(2014) Jeffrey D. Stumpf et al.   PLoS Genetics

The Exonuclease Activity of the Yeast Mitochondrial DNA Polymerase   Suppresses Mitochondrial DNA Deletions Between Short Direct Repeats in Saccharomyces cerevisiae

(2013) J. D. Stumpf et al.   GENETICS

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

C-Terminal Extension of the Yeast Mitochondrial DNA Polymerase Determines the Balance between Synthesis and Degradation

(2012) Katrin Viikov et al.   PLoS One

Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ

(2011) Liliya Euro et al.   NUCLEIC ACIDS RESEARCH

Maintenance and expression of the S. cerevisiae mitochondrial genome—From genetics to evolution and systems biology

(2010) Kamil A. Lipinski et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Functional analysis of H. sapiens DNA polymerase γ spacer mutation W748S with and without common variant E1143G

(2010) Eino J.H. Palin et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutations

(2010) Jeffrey D. Stumpf et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

High-resolution DNA melting analysis in clinical research and diagnostics

(2010) Jesse L Montgomery et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

DMR1 (CCM1/YGR150C) of Saccharomyces cerevisiae Encodes an RNA-Binding Protein from the Pentatricopeptide Repeat Family Required for the Maintenance of the Mitochondrial 15S Ribosomal RNA

(2010) O. Puchta et al.   GENETICS

mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae

(2010) J. D. Stumpf et al.   HUMAN MOLECULAR GENETICS

A cluster of pathogenic mutations in the 3′–5′ exonuclease domain of DNA polymerase gamma defines a novel module coupling DNA synthesis and degradation

(2010) Karolina Szczepanowska et al.   HUMAN MOLECULAR GENETICS

Yeast Models of Human Mitochondrial Diseases

(2010) Antoni Barrientos   IUBMB LIFE

Yeast mitochondrial DNA polymerase is a highly processive single-subunit enzyme

(2010) Katrin Viikov et al.   MITOCHONDRION

Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model

(2010) Enrico Baruffini et al.   MITOCHONDRION

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Structural Insight into Processive Human Mitochondrial DNA Synthesis and Disease-Related Polymerase Mutations

(2009) Young-Sam Lee et al.   CELL

Frequency of Mitochondrial Defects in Patients With Chronic Intestinal Pseudo-Obstruction

(2009) Aurélien Amiot et al.   GASTROENTEROLOGY

A variable neurodegenerative phenotype with polymerase   mutation

(2009) S Stricker et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome

(2009) Sherine S.L. Chan et al.   MITOCHONDRION

Construction and validation of a yeast model system for studying in vivo the susceptibility to nucleoside analogues of DNA polymerase gamma allelic variants

(2009) Enrico Baruffini et al.   MITOCHONDRION

Juvenile Alpers Disease

(2008) Esko Wiltshire et al.   ARCHIVES OF NEUROLOGY

Molecular and clinical genetics of mitochondrial diseases due toPOLGmutations

(2008) Lee-Jun C. Wong et al.   HUMAN MUTATION