Autism spectrum disorder: prospects for treatment using gene therapy

Gene therapy: evidence, value and affordability in the US health care system

(2018) Grace Hampson et al.   Journal of Comparative Effectiveness Research

Therapeutic approaches for spinal muscular atrophy (SMA)

(2017) M Scoto et al.   GENE THERAPY

A Retinal Research Nonprofit Paves the Way for Commercializing Gene Therapies

(2017) Ben Shaberman   HUMAN GENE THERAPY

Autism gene Ube3a and seizures impair sociability by repressing VTA Cbln1

(2017) Vaishnav Krishnan et al.   NATURE

Radically truncated MeCP2 rescues Rett syndrome-like neurological defects

(2017) Rebekah Tillotson et al.   NATURE

Efficient genome editing in the mouse brain by local delivery of engineered Cas9 ribonucleoprotein complexes

(2017) Brett T Staahl et al.   NATURE BIOTECHNOLOGY

Altered cerebellar connectivity in autism and cerebellar-mediated rescue of autism-related behaviors in mice

(2017) Catherine J. Stoodley et al.   NATURE NEUROSCIENCE

Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder

(2017) Elaine T Lim et al.   NATURE NEUROSCIENCE

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

(2017) Ryan K C Yuen et al.   NATURE NEUROSCIENCE

A codon-optimized Mecp2 transgene corrects breathing deficits and improves survival in a mouse model of Rett syndrome

(2017) Valerie Matagne et al.   NEUROBIOLOGY OF DISEASE

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy

(2017) Jerry R. Mendell et al.   NEW ENGLAND JOURNAL OF MEDICINE

Structure-guided evolution of antigenically distinct adeno-associated virus variants for immune evasion

(2017) Longping Victor Tse et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Environmental risk factors for autism: an evidence-based review of systematic reviews and meta-analyses

(2017) Amirhossein Modabbernia et al.   Molecular Autism

Development of a Novel AAV Gene Therapy Cassette with Improved Safety Features and Efficacy in a Mouse Model of Rett Syndrome

(2017) Kamal K.E. Gadalla et al.   Molecular Therapy-Methods & Clinical Development

Neuronal mechanisms and circuits underlying repetitive behaviors in mouse models of autism spectrum disorder

(2016) Hyopil Kim et al.   Behavioral and Brain Functions

Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder

(2016) Dora C. Tărlungeanu et al.   CELL

mTOR, a Potential Target to Treat Autism Spectrum Disorder

(2016) Atsushi Sato   CNS & Neurological Disorders-Drug Targets

FMRP Expression Levels in Mouse Central Nervous System Neurons Determine Behavioral Phenotype

(2016) Jason Arsenault et al.   HUMAN GENE THERAPY

Adeno-Associated Virus-Based Gene Therapy for CNS Diseases

(2016) Michaël Hocquemiller et al.   HUMAN GENE THERAPY

In Vivo Delivery Systems for Therapeutic Genome Editing

(2016) Luyao Wang et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Gene therapy for the CNS using AAVs: The impact of systemic delivery by AAV9

(2016) Joana Saraiva et al.   JOURNAL OF CONTROLLED RELEASE

Phenotyping, Etiological Factors, and Biomarkers

(2016) David Q. Beversdorf   JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS

Current Perspectives in Autism Spectrum Disorder: From Genes to Therapy

(2016) Maria Chahrour et al.   JOURNAL OF NEUROSCIENCE

Genome-editing Technologies for Gene and Cell Therapy

(2016) Morgan L Maeder et al.   MOLECULAR THERAPY

Adult restoration of Shank3 expression rescues selective autistic-like phenotypes

(2016) Yuan Mei et al.   NATURE

Cre-dependent selection yields AAV variants for widespread gene transfer to the adult brain

(2016) Benjamin E Deverman et al.   NATURE BIOTECHNOLOGY

Lessons learned from studying syndromic autism spectrum disorders

(2016) Yehezkel Sztainberg et al.   NATURE NEUROSCIENCE

When size matters: CHD8 in autism

(2016) Martin W Breuss et al.   NATURE NEUROSCIENCE

Monogenic mouse models of autism spectrum disorders: Common mechanisms and missing links

(2016) S.W. Hulbert et al.   NEUROSCIENCE

Astrocytes and Microglia and Their Potential Link with Autism Spectrum Disorders

(2016) Francesco Petrelli et al.   Frontiers in Cellular Neuroscience

Potential pitfalls of CRISPR/Cas9-mediated genome editing

(2015) Rongxue Peng et al.   FEBS Journal

Ube3a reinstatement identifies distinct developmental windows in a murine Angelman syndrome model

(2015) Sara Silva-Santos et al.   JOURNAL OF CLINICAL INVESTIGATION

Gene hunting in autism spectrum disorder: on the path to precision medicine

(2015) Daniel H Geschwind et al.   LANCET NEUROLOGY

Gene therapy returns to centre stage

(2015) Luigi Naldini   NATURE

Whole-genome sequencing of quartet families with autism spectrum disorder

(2015) Ryan K C Yuen et al.   NATURE MEDICINE

Knocking down disease: a progress report on siRNA therapeutics

(2015) Anders Wittrup et al.   NATURE REVIEWS GENETICS

Survival benefit and phenotypic improvement by hamartin gene therapy in a tuberous sclerosis mouse brain model

(2015) Shilpa Prabhakar et al.   NEUROBIOLOGY OF DISEASE

Angelman syndrome-associated ubiquitin ligase UBE3A/E6AP mutants interfere with the proteolytic activity of the proteasome

(2015) V Tomaić et al.   Cell Death & Disease

Autism and Epilepsy: Exploring the Relationship Using Experimental Models

(2015) Carl E. Stafstrom et al.   Epilepsy Currents

Cerebellar gray matter and lobular volumes correlate with core autism symptoms

(2015) Anila M. D'Mello et al.   NeuroImage-Clinical

Integrated systems analysis reveals a molecular network underlying autism spectrum disorders

(2014) J. Li et al.   Molecular Systems Biology

Synaptic, transcriptional and chromatin genes disrupted in autism

(2014) Silvia De Rubeis et al.   NATURE

Towards a therapy for Angelman syndrome by targeting a long non-coding RNA

(2014) Linyan Meng et al.   NATURE

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

Reduced Phenotypic Severity Following Adeno-Associated Virus-Mediated Fmr1 Gene Delivery in Fragile X Mice

(2014) Shervin Gholizadeh et al.   NEUROPSYCHOPHARMACOLOGY

Regional Alterations in Purkinje Cell Density in Patients with Autism

(2014) Jerry Skefos et al.   PLoS One

Neurobiology of autism gene products: towards pathogenesis and drug targets

(2014) Kristel T. E. Kleijer et al.   PSYCHOPHARMACOLOGY

Costs of Autism Spectrum Disorders in the United Kingdom and the United States

(2014) Ariane V. S. Buescher et al.   JAMA Pediatrics

Gene × Environment Interactions in Autism Spectrum Disorders: Role of Epigenetic Mechanisms

(2014) Sylvie Tordjman et al.   Frontiers in Psychiatry

Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing

(2013) Yong-hui Jiang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Autism genetics

(2013) Antonio M. Persico et al.   BEHAVIOURAL BRAIN RESEARCH

Immune responses to AAV vectors: overcoming barriers to successful gene therapy

(2013) F. Mingozzi et al.   BLOOD

Restoration of Cytoskeleton Homeostasis After Gigaxonin Gene Transfer for Giant Axonal Neuropathy

(2013) Silke Mussche et al.   HUMAN GENE THERAPY

Systemic Delivery of MeCP2 Rescues Behavioral and Cellular Deficits in Female Mouse Models of Rett Syndrome

(2013) S. K. Garg et al.   JOURNAL OF NEUROSCIENCE

From FMRP Function to Potential Therapies for Fragile X Syndrome

(2013) Ferzin Sethna et al.   NEUROCHEMICAL RESEARCH

Analysis of Transduction Efficiency, Tropism and Axonal Transport of AAV Serotypes 1, 2, 5, 6, 8 and 9 in the Mouse Brain

(2013) Dominik F. Aschauer et al.   PLoS One

Rescue of fragile X syndrome phenotypes in Fmr1 KO mice by the small-molecule PAK inhibitor FRAX486

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

Neuroligins Provide Molecular Links Between Syndromic and Nonsyndromic Autism

(2013) S. K. Singh et al.   Science Signaling

Functional Consequences of Mutations in Postsynaptic Scaffolding Proteins and Relevance to Psychiatric Disorders

(2012) Jonathan T. Ting et al.   Annual Review of Neuroscience

Morphological and functional reversal of phenotypes in a mouse model of Rett syndrome

(2012) Lianne Robinson et al.   BRAIN

Improved Survival and Reduced Phenotypic Severity Following AAV9/MECP2 Gene Transfer to Neonatal and Juvenile Male Mecp2 Knockout Mice

(2012) Kamal KE Gadalla et al.   MOLECULAR THERAPY

Autism-related deficits via dysregulated eIF4E-dependent translational control

(2012) Christos G. Gkogkas et al.   NATURE

Patterns and rates of exonic de novo mutations in autism spectrum disorders

(2012) Benjamin M. Neale et al.   NATURE

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

(2012) Stephan J. Sanders et al.   NATURE

RNA therapeutics: beyond RNA interference and antisense oligonucleotides

(2012) Ryszard Kole et al.   NATURE REVIEWS DRUG DISCOVERY

De Novo Gene Disruptions in Children on the Autistic Spectrum

(2012) Ivan Iossifov et al.   NEURON

Diagnostic Evaluation of Autism Spectrum Disorders

(2012) Marisela Huerta et al.   PEDIATRIC CLINICS OF NORTH AMERICA

Shared Synaptic Pathophysiology in Syndromic and Nonsyndromic Rodent Models of Autism

(2012) S. J. Baudouin et al.   SCIENCE

Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy

(2012) G. Novarino et al.   SCIENCE

Synaptic Dysfunction in Neurodevelopmental Disorders Associated with Autism and Intellectual Disabilities

(2012) H. Y. Zoghbi et al.   Cold Spring Harbor Perspectives in Biology

Rapamycin reverses impaired social interaction in mouse models of tuberous sclerosis complex

(2012) Atsushi Sato et al.   Nature Communications

The Role of MeCP2 in the Brain

(2011) Jacky Guy et al.   Annual Review of Cell and Developmental Biology

Evidence for association between Disrupted-in-schizophrenia 1 (DISC1) gene polymorphisms and autism in Chinese Han population: a family-based association study

(2011) Fanfan Zheng et al.   Behavioral and Brain Functions

The role of immune dysfunction in the pathophysiology of autism

(2011) Charity Onore et al.   BRAIN BEHAVIOR AND IMMUNITY

Robust spinal motor neuron transduction following intrathecal delivery of AAV9 in pigs

(2011) T Federici et al.   GENE THERAPY

Adeno-Associated Virus Serotype 9 Transduction in the Central Nervous System of Nonhuman Primates

(2011) Lluis Samaranch et al.   HUMAN GENE THERAPY

Silencing disease genes in the laboratory and the clinic

(2011) Jonathan K Watts et al.   JOURNAL OF PATHOLOGY

Mutations causing syndromic autism define an axis of synaptic pathophysiology

(2011) Benjamin D. Auerbach et al.   NATURE

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

(2011) Brian J O'Roak et al.   NATURE GENETICS

Cell Adhesion Molecules and Their Involvement in Autism Spectrum Disorder

(2011) Haihong Ye et al.   NEUROSIGNALS

Prevalence of Serum IgG and Neutralizing Factors Against Adeno-Associated Virus (AAV) Types 1, 2, 5, 6, 8, and 9 in the Healthy Population: Implications for Gene Therapy Using AAV Vectors

(2010) Sylvie Boutin et al.   HUMAN GENE THERAPY

Autism and other neuropsychiatric symptoms are prevalent in individuals withMeCP2duplication syndrome

(2009) Melissa B. Ramocki et al.   ANNALS OF NEUROLOGY

Fragile X mental retardation protein replacement restores hippocampal synaptic function in a mouse model of fragile X syndrome

(2009) Z Zeier et al.   GENE THERAPY

Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1

(2008) Salima Hacein-Bey-Abina et al.   JOURNAL OF CLINICAL INVESTIGATION

Neuroligins and neurexins link synaptic function to cognitive disease

(2008) Thomas C. Südhof   NATURE

Reversal of learning deficits in a Tsc2 +/− mouse model of tuberous sclerosis

(2008) Dan Ehninger et al.   NATURE MEDICINE