Subnormal levels of POLγA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and autosomal dominant progressive external ophthalmoplegia

In vivo mutagenesis reveals that OriL is essential for mitochondrial DNA replication

(2012) Sjoerd Wanrooij et al.   EMBO REPORTS

Novel POLG Splice Site Mutation and Optic Atrophy

(2011) Margherita Milone et al.   ARCHIVES OF NEUROLOGY

Sequence-specific stalling of DNA polymerase γ and the effects of mutations causing progressive ophthalmoplegia†

(2011) Neli Atanassova et al.   HUMAN MOLECULAR GENETICS

Mitochondrial DNA polymerase   mutations: an ever expanding molecular and clinical spectrum

(2011) S. Tang et al.   JOURNAL OF MEDICAL GENETICS

The human mitochondrial replication fork in health and disease

(2010) Sjoerd Wanrooij et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

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

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

Mitochondrial RNA Polymerase Is Needed for Activation of the Origin of Light-Strand DNA Replication

(2010) Javier Miralles Fusté et al.   MOLECULAR CELL

Mitochondrial DNA depletion in progressive external ophthalmoplegia caused byPOLG1mutations

(2009) C. Tzoulis et al.   ACTA NEUROLOGICA SCANDINAVICA

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

(2009) Young-Sam Lee et al.   CELL

The unfolding clinical spectrum of POLG mutations

(2009) M J Blok et al.   JOURNAL OF MEDICAL GENETICS

Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations

(2008) Neil Ashley et al.   HUMAN MOLECULAR GENETICS

Analysis of mutant DNA polymerase γ in patients with mitochondrial DNA depletion

(2008) Jan-Willem Taanman et al.   HUMAN MUTATION

Molecular and clinical genetics of mitochondrial diseases due toPOLGmutations

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

What causes mitochondrial DNA deletions in human cells?

(2008) Kim J Krishnan et al.   NATURE GENETICS

Human mitochondrial RNA polymerase primes lagging-strand DNA synthesis in vitro

(2008) S. Wanrooij et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA