Altered Bioenergetics in Primary Dermal Fibroblasts from Adult Carriers of the FMR1 Premutation Before the Onset of the Neurodegenerative Disease Fragile X-Associated Tremor/Ataxia Syndrome

Premutation in the Fragile X Mental Retardation 1 (FMR1) Gene Affects Maternal Zn-milk and Perinatal Brain Bioenergetics and Scaffolding

(2016) Eleonora Napoli et al.   Frontiers in Neuroscience

Mitochondrial Citrate Transporter-dependent Metabolic Signature in the 22q11.2 Deletion Syndrome

(2015) Eleonora Napoli et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

MitoLoc: A method for the simultaneous quantification of mitochondrial network morphology and membrane potential in single cells

(2015) Jakob Vowinckel et al.   MITOCHONDRION

A 3′ untranslated region variant inFMR1eliminates neuronal activity-dependent translation of FMRP by disrupting binding of the RNA-binding protein HuR

(2015) Joshua A. Suhl et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A key role of the mitochondrial citrate carrier (SLC25A1) in TNFα- and IFNγ-triggered inflammation

(2014) Vittoria Infantino et al.   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

Deficits in Bioenergetics and Impaired Immune Response in Granulocytes From Children With Autism

(2014) E. Napoli et al.   PEDIATRICS

Energy Failure

(2013) Divya Pathak et al.   ANNALS OF NEUROLOGY

Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome

(2013) Randi Hagerman et al.   LANCET NEUROLOGY

CGG Repeat-Associated Translation Mediates Neurodegeneration in Fragile X Tremor Ataxia Syndrome

(2013) Peter K. Todd et al.   NEURON

Toxicity of the Flame-Retardant BDE-49 on Brain Mitochondria and Neuronal Progenitor Striatal Cells Enhanced by a PTEN-Deficient Background

(2013) Eleonora Napoli et al.   TOXICOLOGICAL SCIENCES

Evidence of reactive oxygen species-mediated damage to mitochondrial DNA in children with typical autism

(2013) Eleonora Napoli et al.   Molecular Autism

Defective mitochondrial disulfide relay system, altered mitochondrial morphology and function in Huntington's disease

(2012) Eleonora Napoli et al.   HUMAN MOLECULAR GENETICS

Signaling defects in iPSC-derived fragile X premutation neurons

(2012) Jing Liu et al.   HUMAN MOLECULAR GENETICS

Function of GRIM-19, a Mitochondrial Respiratory Chain Complex I Protein, in Innate Immunity

(2012) Yong Chen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mitochondrial Dysfunction in Pten Haplo-Insufficient Mice with Social Deficits and Repetitive Behavior: Interplay between Pten and p53

(2012) Eleonora Napoli et al.   PLoS One

A Pathogenic Mechanism in Huntington's Disease Involves Small CAG-Repeated RNAs with Neurotoxic Activity

(2012) Mónica Bañez-Coronel et al.   PLoS Genetics

Mitochondrial membrane potential probes and the proton gradient: a practical usage guide

(2011) Seth W. Perry et al.   BIOTECHNIQUES

Mitochondria: commanders of innate immunity and disease?

(2011) Suzanne M Cloonan et al.   CURRENT OPINION IN IMMUNOLOGY

Altered zinc transport disrupts mitochondrial protein processing/import in fragile X-associated tremor/ataxia syndrome

(2011) Eleonora Napoli et al.   HUMAN MOLECULAR GENETICS

Repeat Associated Non-ATG Translation Initiation: One DNA, Two Transcripts, Seven Reading Frames, Potentially Nine Toxic Entities!

(2011) Christopher E. Pearson   PLoS Genetics

Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndrome

(2010) Catherine Ross-Inta et al.   BIOCHEMICAL JOURNAL

Mitochondrial proton and electron leaks

(2010) Martin Jastroch et al.   Essays in Biochemistry

High mitochondrial DNA copy number has detrimental effects in mice

(2010) Emil Ylikallio et al.   HUMAN MOLECULAR GENETICS

A pivotal role for PINK1 and autophagy in mitochondrial quality control: implications for Parkinson disease

(2010) C. T. Chu   HUMAN MOLECULAR GENETICS

Mitochondrial Dysfunction in Autism

(2010) Cecilia Giulivi et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION