Citation Impact
Citing Papers
TFEB Links Autophagy to Lysosomal Biogenesis
2011 StandoutScience
Phosphorylation of ULK1 (hATG1) by AMP-Activated Protein Kinase Connects Energy Sensing to Mitophagy
2010 StandoutScience
Impairment of starvation-induced and constitutive autophagy in Atg7 -deficient mice
2005 StandoutNobel
TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis
2008 StandoutScience
Induced Pluripotent Stem Cells Generated from Patients with ALS Can Be Differentiated into Motor Neurons
2008 StandoutScience
EglN2 associates with the NRF 1‐ PGC 1α complex and controls mitochondrial function in breast cancer
2015 StandoutNobel
Hypoxia and intra-complex genetic suppressors rescue complex I mutants by a shared mechanism
2024 StandoutNobel
AIF meets the CHCHD4/Mia40-dependent mitochondrial import pathway
2020
Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling
2008
Modulation of the W748S mutation in DNA polymerase γ by the E1143G polymorphismin mitochondrial disorders
2006
Mammalian Fe–S cluster biogenesis and its implication in disease
2014
The DNA polymerase Y955C disease variant associated with PEO and parkinsonism mediates the incorporation and translesion synthesis opposite 7,8-dihydro-8-oxo-2'-deoxyguanosine
2007
Mammalian Mitochondrial Complex I Structure and Disease-Causing Mutations
2018
Colorectal Cancer Stem Cells Are Enriched in Xenogeneic Tumors Following Chemotherapy
2008
Mitochondrial DNA mutations in human cancer
2006
Mitochondria: Dynamic Organelles in Disease, Aging, and Development
2006 Standout
Retinitis Pigmentosa and Progressive Sensorineural Hearing Loss Caused by a C12258A Mutation in the Mitochondrial MTTS2 Gene
1999
Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: A syndrome caused by a missense mutation in OPA1
2004
Premature ageing in mice expressing defective mitochondrial DNA polymerase
2004 StandoutNature
The Relationship Between the Rate of Molecular Evolution and the Rate of Genome Rearrangement in Animal Mitochondrial Genomes
2006
Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations
2006
A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology
2008 Standout
The Importance of Mitochondria in Age-Related and Inherited Eye Disorders
2010
Mitochondrial DNA polymerase-γ and human disease
2006
Amyotrophic lateral sclerosis
2011 Standout
Mitochondrial DNA and disease
2005
Complete Mitochondrial Genomes Reveal Neolithic Expansion into Europe
2012 StandoutNobel
Nitric Oxide and Peroxynitrite in Health and Disease
2007 Standout
Assembly of mitochondrial complex I and defects in disease
2008
Biological Functions of Autophagy Genes: A Disease Perspective
2019 Standout
Multiple sclerosis
2008 Standout
Mitochondria: In Sickness and in Health
2012 Standout
Decoding ALS: from genes to mechanism
2016 StandoutNature
Mechanisms of mitochondrial diseases
2011
mTOR Signaling in Growth, Metabolism, and Disease
2017 Standout
Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study
2016 Standout
Parkinsonism, premature menopause, and mitochondrial DNA polymerase γ mutations: clinical and molecular genetic study
2004
Finding twinkle in the eyes of a 71‐year‐old lady: A case report and review of the genotypic and phenotypic spectrum of TWINKLE‐related dominant disease
2009
Mitochondrial Alterations in the Spinal Cord of Patients With Sporadic Amyotrophic Lateral Sclerosis
2007
No Evidence for an mtDNA Role in Sperm Motility: Data from Complete Sequencing of Asthenozoospermic Males
2007
Retinitis pigmentosa
2006 Standout
The end of AIDS: HIV infection as a chronic disease
2013 Standout
Tumour heterogeneity and cancer cell plasticity
2013 StandoutNature
Hypoxia Rescues Frataxin Loss by Restoring Iron Sulfur Cluster Biogenesis
2019 StandoutNobel
BLM–DNA2–RPA–MRN and EXO1–BLM–RPA–MRN constitute two DNA end resection machineries for human DNA break repair
2011 StandoutNobel
Mouse models for mitochondrial disease
2001
Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases
2006 StandoutNature
Progress in the pathogenesis of amyotrophic lateral sclerosis
2001
SANDO: Two novel mutations in POLG1 gene
2006
Understanding the Intersections between Metabolism and Cancer Biology
2017 Standout
Structural Determinants in Human DNA Polymerase γ Account for Mitochondrial Toxicity from Nucleoside Analogs
2003
Mitochondrial dysfunction as a cause of optic neuropathies
2004
Searching for genes affecting the structural integrity of the mitochondrial genome
1995
AKT/PKB Signaling: Navigating the Network
2017 Standout
Repertoires of Autophagy in the Pathogenesis of Ocular Diseases
2015 Standout
Resveratrol Improves Mitochondrial Function and Protects against Metabolic Disease by Activating SIRT1 and PGC-1α
2006 Standout
Mitochondrial myopathy induces a starvation-like response
2010
Ferroptosis: mechanisms, biology and role in disease
2021 Standout
The Hallmarks of Aging
2013 Standout
High levels of mitochondrial DNA deletions in skeletal muscle of old rhesus monkeys
1995
A Stop-Codon Mutation in the Human mtDNA Cytochrome c Oxidase I Gene Disrupts the Functional Structure of Complex IV
1999
Molecular biology of amyotrophic lateral sclerosis: insights from genetics
2006
Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice
2008
Mitochondrial DNA Polymerase W748S Mutation: A Common Cause of Autosomal Recessive Ataxia with Ancient European Origin
2005
Dissecting the Regulatory Circuitry of a Eukaryotic Genome
1998 Standout
Mitochondrial aging is accelerated by anti-retroviral therapy through the clonal expansion of mtDNA mutations
2011
Amyotrophic Lateral Sclerosis
2001 Standout
Mitochondrial defects in acute multiple sclerosis lesions
2008
The cancer genome
2009 StandoutNature
The genetics and pathology of oxidative phosphorylation
2001
Analysis of 81 genes from 64 plastid genomes resolves relationships in angiosperms and identifies genome-scale evolutionary patterns
2007 Standout
Mutations of ANT1 , Twinkle , and POLG1 in sporadic progressive external ophthalmoplegia (PEO)
2003
Antisense Oligonucleotides Delivered to the Mouse CNS Ameliorate Symptoms of Severe Spinal Muscular Atrophy
2011
A Mitochondrial Paradigm of Metabolic and Degenerative Diseases, Aging, and Cancer: A Dawn for Evolutionary Medicine
2005 Standout
DNA analysis of an early modern human from Tianyuan Cave, China
2013 StandoutNobel
Familial multisystem degeneration with parkinsonism associated with the 11778 mitochondrial DNA mutation
1999
DNA Polymerase γ in Mitochondrial DNA Replication and Repair
2005
Metabolic control of cell death
2014 Science
Mitochondrial DNA Mutations, Oxidative Stress, and Apoptosis in Mammalian Aging
2005 StandoutScience
Thymidine Phosphorylase Gene Mutations in MNGIE, a Human Mitochondrial Disorder
1999 Science
Membrane proteomics of phagosomes suggests a connection to autophagy
2008 StandoutNobel
Exploring the Metabolic and Genetic Control of Gene Expression on a Genomic Scale
1997 StandoutScience
Mitochondrial Reactive Oxygen Species (ROS) and ROS-Induced ROS Release
2014 Standout
Fluorescence Lifetime Measurements and Biological Imaging
2010 Standout
Mitochondrial Disorders in the Nervous System
2008
In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria.
1991
Mitochondrial complex I: Structure, function and pathology
2006
In vivo genome editing improves motor function and extends survival in a mouse model of ALS
2017
Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome
2011
Classification of human lung carcinomas by mRNA expression profiling reveals distinct adenocarcinoma subclasses
2001 Standout
Mitochondrial Diseases in Man and Mouse
1999 StandoutScience
A novel Twinkle (PEO1) gene mutation in a Chinese family with adPEO.
2008
Human Dna2 Is a Nuclear and Mitochondrial DNA Maintenance Protein
2009
Caloric restriction reduces fiber loss and mitochondrial abnormalities in aged rat muscle
1997
Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing
2012
Lethal mitochondrial cardiomyopathy in a hypomorphic Med30 mouse mutant is ameliorated by ketogenic diet
2011 StandoutNobel
Mitochondrial dysfunction remodels one-carbon metabolism in human cells
2016
CRISPR-Cas guides the future of genetic engineering
2018 StandoutScienceNobel
Membrane Morphology Is Actively Transformed by Covalent Binding of the Protein Atg8 to PE-Lipids
2014 StandoutNobel
Understanding the Warburg Effect: The Metabolic Requirements of Cell Proliferation
2009 StandoutScience
Accessing Genetic Information with High-Density DNA Arrays
1996 Science
Inherited Mitochondrial Diseases of DNA Replication
2007
Autophagy in Health and Disease: A Double-Edged Sword
2004 StandoutScience
Works of Andreina Bordoni being referenced
Neural stem cell transplantation can ameliorate the phenotype of a mouse model of spinal muscular atrophy
2008
Morpholino-mediated SOD1 reduction ameliorates an amyotrophic lateral sclerosis disease phenotype
2016
The Mitochondrial Disulfide Relay System Protein GFER Is Mutated in Autosomal-Recessive Myopathy with Cataract and Combined Respiratory-Chain Deficiency
2009
Mutations of mitochondrial DNA polymerase γA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia
2002
A New Mitochondrial DNA Mutation in ND3 Gene Causing Severe Leigh Syndrome with Early Lethality
2004
POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions
2003
Mitochondrial myopathy: correlation between oxidative defect and mitochondrial DNA deletions at single fiber level
1994
Evidence and age-related distribution of mtDNA D-loop point mutations in skeletal muscle from healthy subjects and mitochondrial patients
2002
Mitochondrial A12308G polymorphism affects clinical features in patients with single mtDNA macrodeletion
2003
Transplanted ALDHhiSSClo neural stem cells generate motor neurons and delay disease progression of nmd mice, an animal model of SMARD1
2005
A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome
2003
Cytochrome c Oxidase subunit I microdeletion in a patient with motor neuron disease
1998
New Mutations in TK2 Gene Associated With Mitochondrial DNA Depletion
2006
Multiple deletions of mitochondrial DNA in sporadic and atypical cases of encephalomyopathy
1994
Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia
2008
A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy
2005
A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family
2001
Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE syndrome
1998
Clonal analysis and differentiative properties of adult human muscle cells
1986
Remarkable infidelity of polymerase γA associated with mutations in POLG1 exonuclease domain
2003
Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease.
1990
A mitochondrial tRNA His gene mutation causing pigmentary retinopathy and neurosensorial deafness
2003
Skeletal muscle gene expression profiling in mitochondrial disorders
2005