Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene

The translational regulator FMRP controls lipid and glucose metabolism in mice and humans

(2019) Antoine Leboucher et al.   Molecular Metabolism

Repeat-associated non-AUG (RAN) translation and other molecular mechanisms in Fragile X Tremor Ataxia Syndrome

(2018) M. Rebecca Glineburg et al.   BRAIN RESEARCH

Proteomic Profiling of Brain and Testis Reveals the Diverse Changes in Ribosomal Proteins in fmr1 Knockout Mice

(2018) Benhong Xu et al.   NEUROSCIENCE

Protein synthesis levels are increased in a subset of individuals with fragile X syndrome

(2018) Sébastien Jacquemont et al.   HUMAN MOLECULAR GENETICS

Iron accumulation and dysregulation in the putamen in fragile X-associated tremor/ataxia syndrome

(2017) Jeanelle Ariza et al.   MOVEMENT DISORDERS

The impact of cellular metabolism on chromatin dynamics and epigenetics

(2017) Michael A. Reid et al.   NATURE CELL BIOLOGY

Mitophagy in neurodegeneration and aging

(2017) Elayne M. Fivenson et al.   NEUROCHEMISTRY INTERNATIONAL

Mitostasis in Neurons: Maintaining Mitochondria in an Extended Cellular Architecture

(2017) Thomas Misgeld et al.   NEURON

Mitochondria and Epigenetics – Crosstalk in Homeostasis and Stress

(2017) Olli Matilainen et al.   TRENDS IN CELL BIOLOGY

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

(2016) Eleonora Napoli et al.   CEREBELLUM

1,4-Dihydropyridines Active on the SIRT1/AMPK Pathway Ameliorate Skin Repair and Mitochondrial Function and Exhibit Inhibition of Proliferation in Cancer Cells

(2016) Sergio Valente et al.   JOURNAL OF MEDICINAL CHEMISTRY

Altered Redox Mitochondrial Biology in the Neurodegenerative Disorder Fragile X-Tremor/Ataxia Syndrome: Use of Antioxidants in Precision Medicine

(2016) Gyu Song et al.   MOLECULAR MEDICINE

Impaired Mitochondrial Function and Dynamics in the Pathogenesis of FXTAS

(2016) M. I. Alvarez-Mora et al.   MOLECULAR NEUROBIOLOGY

Novel Blood Biomarkers Are Associated with White Matter Lesions in Fragile X- Associated Tremor/Ataxia Syndrome

(2016) Danuta Z. Loesch et al.   Neurodegenerative Diseases

CGG Repeat-Induced FMR1 Silencing Depends on the Expansion Size in Human iPSCs and Neurons Carrying Unmethylated Full Mutations

(2016) Urszula Brykczynska et al.   Stem Cell Reports

Dysregulated iron metabolism in the choroid plexus in fragile X-associated tremor/ataxia syndrome

(2015) Jeanelle Ariza et al.   BRAIN RESEARCH

Repeat-mediated epigenetic dysregulation of the FMR1 gene in the fragile X-related disorders

(2015) Karen Usdin et al.   Frontiers in Genetics

SnapShot: FMRP mRNA Targets and Diseases

(2014) Emanuela Pasciuto et al.   CELL

Induced expression of expanded CGG RNA causes mitochondrial dysfunctionin vivo

(2014) Renate K Hukema et al.   CELL CYCLE

Quantitative Phosphoproteomics of Murine Fmr1-KO Cell Lines Provides New Insights into FMRP-Dependent Signal Transduction Mechanisms

(2014) Katarina Matic et al.   JOURNAL OF PROTEOME RESEARCH

Variants of mitochondrial autophagy: Types 1 and 2 mitophagy and micromitophagy (Type 3)

(2014) John J. Lemasters   Redox Biology

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

(2013) Peter K. Todd et al.   NEURON

Sequestration of DROSHA and DGCR8 by Expanded CGG RNA Repeats Alters MicroRNA Processing in Fragile X-Associated Tremor/Ataxia Syndrome

(2013) Chantal Sellier et al.   Cell Reports

Role of CTCF Protein in Regulating FMR1 Locus Transcription

(2013) Stella Lanni et al.   PLoS Genetics

The FMRP regulon: from targets to disease convergence

(2013) Esperanza Fernández et al.   Frontiers in Neuroscience

Early mitochondrial abnormalities in hippocampal neurons cultured fromFmr1pre-mutation mouse model

(2012) Eitan S. Kaplan et al.   JOURNAL OF NEUROCHEMISTRY

FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism

(2011) Jennifer C. Darnell et al.   CELL

A metabolomic and systems biology perspective on the brain of the Fragile X syndrome mouse model

(2011) L. Davidovic et al.   GENOME RESEARCH

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

(2011) Eleonora Napoli et al.   HUMAN MOLECULAR GENETICS

Proteomics, Ultrastructure, and Physiology of Hippocampal Synapses in a Fragile X Syndrome Mouse Model Reveal Presynaptic Phenotype

(2011) Patricia Klemmer et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

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

Proteomic analysis reveals CCT is a target of Fragile X mental retardation protein regulation in Drosophila

(2010) Kate Monzo et al.   DEVELOPMENTAL BIOLOGY

Histone Deacetylases Suppress CGG Repeat–Induced Neurodegeneration Via Transcriptional Silencing in Models of Fragile X Tremor Ataxia Syndrome

(2010) Peter K. Todd et al.   PLoS Genetics

Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations

(2008) Elisabetta Tabolacci et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Quantitative proteomic analysis of primary neurons reveals diverse changes in synaptic protein content in fmr1 knockout mice

(2008) L. Liao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

High-Resolution Imaging of Redox Signaling in Live Cells Through an Oxidation-Sensitive Yellow Fluorescent Protein

(2008) G. Maulucci et al.   Science Signaling