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

Profiling olfactory stem cells from living patients identifies miRNAs relevant for autism pathophysiology

(2016) Lam Son Nguyen et al.   Molecular Autism

RAN translation at CGG repeats induces ubiquitin proteasome system impairment in models of fragile X-associated tremor ataxia syndrome

(2015) Seok Yoon Oh et al.   HUMAN MOLECULAR GENETICS

CNS expression of murine fragile X protein (FMRP) as a function of CGG-repeat size

(2014) A. L. Ludwig et al.   HUMAN MOLECULAR GENETICS

Transient assembly of F-actin on the outer mitochondrial membrane contributes to mitochondrial fission

(2014) Sunan Li et al.   JOURNAL OF CELL BIOLOGY

Novel roles for actin in mitochondrial fission

(2014) A. L. Hatch et al.   JOURNAL OF CELL SCIENCE

Transcriptional and functional complexity of Shank3 provides a molecular framework to understand the phenotypic heterogeneity of SHANK3 causing autism and Shank3 mutant mice

(2014) Xiaoming Wang et al.   Molecular Autism

Zinc deficiency dysregulates the synaptic ProSAP/Shank scaffold and might contribute to autism spectrum disorders

(2013) Stefanie Grabrucker et al.   BRAIN

Actin Dynamics Affect Mitochondrial Quality Control and Aging in Budding Yeast

(2013) Ryo Higuchi et al.   CURRENT BIOLOGY

The 3' UTR of FMR1 mRNA is a target of miR-101, miR-129-5p and miR-221: implications for the molecular pathology of FXTAS at the synapse

(2013) S. Zongaro et al.   HUMAN MOLECULAR GENETICS

Loss of Predominant Shank3 Isoforms Results in Hippocampus-Dependent Impairments in Behavior and Synaptic Transmission

(2013) M. Kouser et al.   JOURNAL OF NEUROSCIENCE

Human Milk and the Nutritional Needs of Preterm Infants

(2013) David I. Tudehope   JOURNAL OF PEDIATRICS

Altered neural activity of magnitude estimation processing in adults with the fragile X premutation

(2013) So-Yeon Kim et al.   JOURNAL OF PSYCHIATRIC RESEARCH

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

(2013) Randi Hagerman et al.   LANCET NEUROLOGY

SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties

(2013) Kihoon Han et al.   NATURE

Brain structure in asymptomatic FMR1 premutation carriers at risk for fragile X-associated tremor/ataxia syndrome

(2013) Giovanni Battistella et al.   NEUROBIOLOGY OF AGING

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

(2013) Peter K. Todd et al.   NEURON

Mitochondria impact brain function and cognition

(2013) M. Picard et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Presynaptic mitochondrial morphology in monkey prefrontal cortex correlates with working memory and is improved with estrogen treatment

(2013) Y. Hara et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

FMRP regulates actin filament organization via the armadillo protein p0071

(2013) A. Nolze et al.   RNA

An Actin-Dependent Step in Mitochondrial Fission Mediated by the ER-Associated Formin INF2

(2013) F. Korobova et al.   SCIENCE

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

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

Immune-mediated disorders among women carriers of fragile X premutation alleles

(2012) Tri Indah Winarni et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

ZnT4 provides zinc to zinc-dependent proteins in the trans-Golgi network critical for cell function and Zn export in mammary epithelial cells

(2012) Nicholas H. McCormick et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Gene regulation of UDP-galactose synthesis and transport: potential rate-limiting processes in initiation of milk production in humans

(2012) Mahmoud A. Mohammad et al.   AMERICAN JOURNAL OF PHYSIOLOGY-ENDOCRINOLOGY AND METABOLISM

Neuropathological, clinical and molecular pathology in female fragile X premutation carriers with and without FXTAS

(2012) F. Tassone et al.   GENES BRAIN AND BEHAVIOR

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

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

Young adult male carriers of the fragile X premutation exhibit genetically modulated impairments in visuospatial tasks controlled for psychomotor speed

(2012) Ling M Wong et al.   Journal of Neurodevelopmental Disorders

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

Cytoplasmic RNA-Binding Proteins and the Control of Complex Brain Function

(2012) J. C. Darnell et al.   Cold Spring Harbor Perspectives in Biology

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

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

Motor deficits on a ladder rung task in male and female adolescent and adult CGG knock-in mice

(2011) Michael R. Hunsaker et al.   BEHAVIOURAL BRAIN RESEARCH

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

(2011) Jennifer C. Darnell et al.   CELL

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

(2011) Eleonora Napoli et al.   HUMAN MOLECULAR GENETICS

Mapping the zinc-transporting system in mammary cells: Molecular analysis reveals a phenotype-dependent zinc-transporting network during lactation

(2011) Shannon L. Kelleher et al.   JOURNAL OF CELLULAR PHYSIOLOGY

Infantile zinc deficiency: Association with autism spectrum disorders

(2011) Hiroshi Yasuda et al.   Scientific Reports

Nitration of specific tyrosines in FoF1 ATP synthase and activity loss in aging

(2010) Virginia Haynes et al.   AMERICAN JOURNAL OF PHYSIOLOGY-ENDOCRINOLOGY AND METABOLISM

Oxidative Stress and Energy Crises in Neuronal Dysfunction

(2010) David G. Nicholls   Annals of the New York Academy of Sciences

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

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

Ubiquitin-positive intranuclear inclusions in neuronal and glial cells in a mouse model of the fragile X premutation

(2010) H. Jürgen Wenzel et al.   BRAIN RESEARCH

Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients

(2010) Chantal Sellier et al.   EMBO JOURNAL

Fragile X and autism: Intertwined at the molecular level leading to targeted treatments

(2010) Randi Hagerman et al.   Molecular Autism

Progressive spatial processing deficits in a mouse model of the fragile X premutation.

(2009) Michael R. Hunsaker et al.   BEHAVIORAL NEUROSCIENCE

 - and  -cytoplasmic actins display distinct distribution and functional diversity

(2009) V. Dugina et al.   JOURNAL OF CELL SCIENCE

Systematic behavioral evaluation of Huntington's disease transgenic and knock-in mouse models

(2009) Liliana Menalled et al.   NEUROBIOLOGY OF DISEASE

Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder

(2008) Catalina García-Nonell et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Expression of the GABAergic system in animal models for fragile X syndrome and fragile X associated tremor/ataxia syndrome (FXTAS)

(2008) Charlotte D'Hulst et al.   BRAIN RESEARCH

Region-selective alterations of glucose oxidation and amino acid synthesis in the thiamine-deficient rat brain: a re-evaluation using1H13C nuclear magnetic resonance spectroscopy

(2008) Darren Navarro et al.   JOURNAL OF NEUROCHEMISTRY