SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder

RNase H1 directs origin-specific initiation of DNA replication in human mitochondria

(2019) Viktor Posse et al.   PLoS Genetics

Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models

(2018) Valentina Del Dotto et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation

(2017) Joshua Traynelis et al.   GENOME RESEARCH

Optic neuropathies: the tip of the neurodegeneration iceberg

(2017) Valerio Carelli et al.   HUMAN MOLECULAR GENETICS

MtDNA-maintenance defects: syndromes and genes

(2017) Carlo Viscomi et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A neurodegenerative perspective on mitochondrial optic neuropathies

(2016) Patrick Yu-Wai-Man et al.   ACTA NEUROPATHOLOGICA

Robust classification of protein variation using structural modelling and large-scale data integration

(2016) Evan H. Baugh et al.   NUCLEIC ACIDS RESEARCH

Six3 regulates optic nerve development via multiple mechanisms

(2016) Anat Samuel et al.   Scientific Reports

Lollipops in the Clinic: Information Dense Mutation Plots for Precision Medicine

(2016) Jeremy J. Jay et al.   PLoS One

RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy

(2015) Aurelio Reyes et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Syndromic parkinsonism and dementia associated withOPA1missense mutations

(2015) Valerio Carelli et al.   ANNALS OF NEUROLOGY

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

(2015) Alexander J Abrams et al.   NATURE GENETICS

Regulation of DNA replication at the end of the mitochondrial D-loop involves the helicase TWINKLE and a conserved sequence element

(2015) Elisabeth Jemt et al.   NUCLEIC ACIDS RESEARCH

Cross-strand binding of TFAM to a single mtDNA molecule forms the mitochondrial nucleoid

(2015) Christian Kukat et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

In vivo Modeling Implicates APOL1 in Nephropathy: Evidence for Dominant Negative Effects and Epistasis under Anemic Stress

(2015) Blair R. Anderson et al.   PLoS Genetics

Blue Cone Monochromacy: Visual Function and Efficacy Outcome Measures for Clinical Trials

(2015) Xunda Luo et al.   PLoS One

Discovery and Functional Annotation of SIX6 Variants in Primary Open-Angle Glaucoma

(2014) Megan Ulmer Carnes et al.   PLoS Genetics

In Vivo Occupancy of Mitochondrial Single-Stranded DNA Binding Protein Supports the Strand Displacement Mode of DNA Replication

(2014) Javier Miralles Fusté et al.   PLoS Genetics

Efficient mitochondrial biogenesis drives incomplete penetrance in Leber’s hereditary optic neuropathy

(2013) Carla Giordano et al.   BRAIN

TWINKLE is an essential mitochondrial helicase required for synthesis of nascent D-loop strands and complete mtDNA replication

(2013) D. Milenkovic et al.   HUMAN MOLECULAR GENETICS

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

(2013) Cornelia Kornblum et al.   NATURE GENETICS

The clinical maze of mitochondrial neurology

(2013) Salvatore DiMauro et al.   Nature Reviews Neurology

Retinal Structure and Function in Achromatopsia

(2013) Venki Sundaram et al.   OPHTHALMOLOGY

Phosphorylation of Human TFAM in Mitochondria Impairs DNA Binding and Promotes Degradation by the AAA+ Lon Protease

(2012) Bin Lu et al.   MOLECULAR CELL

Fusion and Fission: Interlinked Processes Critical for Mitochondrial Health

(2011) David C. Chan   Annual Review of Genetics

The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype

(2011) C. Rouzier et al.   BRAIN

High-resolution optical coherence tomography imaging inKCNV2retinopathy

(2011) Panagiotis I Sergouniotis et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Super-resolution microscopy reveals that mammalian mitochondrial nucleoids have a uniform size and frequently contain a single copy of mtDNA

(2011) C. Kukat et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Multi-system neurological disease is common in patients with OPA1 mutations

(2010) P. Yu-Wai-Man et al.   BRAIN

Oligomerization conditions Mdm2-mediated efficient p53 polyubiquitylation but not its proteasomal degradation

(2010) Roland Hjerpe et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Differential regulation of full-length genome and a single-stranded 7S DNA along the cell cycle in human mitochondria

(2010) Anita Antes et al.   NUCLEIC ACIDS RESEARCH

Gastrointestinal Dysmotility in Mitochondrial Neurogastrointestinal Encephalomyopathy Is Caused by Mitochondrial DNA Depletion

(2008) Carla Giordano et al.   AMERICAN JOURNAL OF PATHOLOGY

Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice

(2008) Carlo Viscomi et al.   HUMAN MOLECULAR GENETICS

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes

(2007) P. Amati-Bonneau et al.   BRAIN