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

Mitochondrial transcription factor A regulates mitochondrial transcription initiation, DNA packaging, and genome copy number

(2012) Christopher T. Campbell et al.   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

Oxidative phosphorylation differences between mitochondrial DNA haplogroups modify the risk of Leber's hereditary optic neuropathy

(2012) Aurora Gómez-Durán et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Revisiting the issue of mitochondrial DNA content in optic mitochondriopathies

(2012) L. Iommarini et al.   NEUROLOGY

Mouse mtDNA mutant model of Leber hereditary optic neuropathy

(2012) C. S. Lin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mitochondrial complex I and cell death: a semi-automatic shotgun model

(2011) D Gonzalez-Halphen et al.   Cell Death & Disease

Evolution Meets Disease: Penetrance and Functional Epistasis of Mitochondrial tRNA Mutations

(2011) Raquel Moreno-Loshuertos et al.   PLoS Genetics

POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts

(2010) Joanna D. Stewart et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Oestrogens ameliorate mitochondrial dysfunction in Leber’s hereditary optic neuropathy

(2010) Carla Giordano et al.   BRAIN

Melanopsin retinal ganglion cells are resistant to neurodegeneration in mitochondrial optic neuropathies

(2010) Chiara La Morgia et al.   BRAIN

No association between the SNPs (rs3749446 and rs1402000) in the PARL gene and LHON in Chinese patients with m.11778G>A

(2010) A-Mei Zhang et al.   HUMAN GENETICS

Genome-wide linkage scan and association study of PARL to the expression of LHON families in Thailand

(2010) Nopasak Phasukkijwatana et al.   HUMAN GENETICS

Association between a common mitochondrial DNA D-loop polycytosine variant and alteration of mitochondrial copy number in human peripheral blood cells

(2010) C.-W. Liou et al.   JOURNAL OF MEDICAL GENETICS

Natural History of Leber's Hereditary Optic Neuropathy: Longitudinal Analysis of the Retinal Nerve Fiber Layer by Optical Coherence Tomography

(2010) Piero Barboni et al.   OPHTHALMOLOGY

Emerging roles of mitochondrial proteases in neurodegeneration

(2009) Paola Martinelli et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Patients with Leber hereditary optic neuropathy fail to compensate impaired oxidative phosphorylation

(2009) Alex Korsten et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Genetic variation in PARL influences mitochondrial content

(2009) Joanne E. Curran et al.   HUMAN GENETICS

Ancient mtDNA Genetic Variants Modulate mtDNA Transcription and Replication

(2009) Sarit Suissa et al.   PLoS Genetics

Evidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic Neuropathy

(2008) Suma P. Shankar et al.   OPHTHALMIC GENETICS

Transcriptional Paradigms in Mammalian Mitochondrial Biogenesis and Function

(2008) Richard C. Scarpulla   PHYSIOLOGICAL REVIEWS