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  1. Article ; Online: Rett syndrome modeling goes simian.

    Novarino, Gaia

    Science translational medicine

    2017  Volume 9, Issue 393

    Abstract: Rett syndrome modeling in monkey mirrors the human disorder. ...

    Abstract Rett syndrome modeling in monkey mirrors the human disorder.
    MeSH term(s) Animals ; Humans ; Macaca fascicularis ; Methyl-CpG-Binding Protein 2 ; Rett Syndrome ; Transcription Activator-Like Effector Nucleases
    Chemical Substances Methyl-CpG-Binding Protein 2 ; Transcription Activator-Like Effector Nucleases (EC 3.1.-)
    Language English
    Publishing date 2017-06-07
    Publishing country United States
    Document type Journal Article ; Comment
    ZDB-ID 2518854-9
    ISSN 1946-6242 ; 1946-6234
    ISSN (online) 1946-6242
    ISSN 1946-6234
    DOI 10.1126/scitranslmed.aan8196
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 6941: Show issues Location:
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  2. Article ; Online: The antisocial side of antibiotics.

    Novarino, Gaia

    Science translational medicine

    2017  Volume 9, Issue 387

    Abstract: Perinatal exposure to penicillin may result in long-lasting gut and behavioral changes. ...

    Abstract Perinatal exposure to penicillin may result in long-lasting gut and behavioral changes.
    Language English
    Publishing date 2017-04-26
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2518854-9
    ISSN 1946-6242 ; 1946-6234
    ISSN (online) 1946-6242
    ISSN 1946-6234
    DOI 10.1126/scitranslmed.aan2786
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Modeling Alzheimer's disease in mice with human neurons.

    Novarino, Gaia

    Science translational medicine

    2017  Volume 9, Issue 381

    Abstract: Human neurons transplanted into a mouse model for Alzheimer's disease show human-specific vulnerability to β-amyloid plaques and may help to identify new therapeutic targets. ...

    Abstract Human neurons transplanted into a mouse model for Alzheimer's disease show human-specific vulnerability to β-amyloid plaques and may help to identify new therapeutic targets.
    MeSH term(s) Alzheimer Disease ; Amyloid beta-Peptides ; Animals ; Brain ; Disease Models, Animal ; Humans ; Mice ; Neurons ; Plaque, Amyloid
    Chemical Substances Amyloid beta-Peptides
    Language English
    Publishing date 2017-03-13
    Publishing country United States
    Document type Journal Article ; Comment
    ZDB-ID 2518854-9
    ISSN 1946-6242 ; 1946-6234
    ISSN (online) 1946-6242
    ISSN 1946-6234
    DOI 10.1126/scitranslmed.aam9867
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article: Tempering expectations: considerations on the current state of stem cells therapy for autism treatment.

    Narzisi, Antonio / Halladay, Alycia / Masi, Gabriele / Novarino, Gaia / Lord, Catherine

    Frontiers in psychiatry

    2023  Volume 14, Page(s) 1287879

    Language English
    Publishing date 2023-10-03
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2564218-2
    ISSN 1664-0640
    ISSN 1664-0640
    DOI 10.3389/fpsyt.2023.1287879
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Genomics in neurodevelopmental disorders: an avenue to personalized medicine.

    Tărlungeanu, Dora C / Novarino, Gaia

    Experimental & molecular medicine

    2018  Volume 50, Issue 8, Page(s) 1–7

    Abstract: Despite the remarkable number of scientific breakthroughs of the last 100 years, the treatment of neurodevelopmental disorders (e.g., autism spectrum disorder, intellectual disability) remains a great challenge. Recent advancements in genomics, such as ... ...

    Abstract Despite the remarkable number of scientific breakthroughs of the last 100 years, the treatment of neurodevelopmental disorders (e.g., autism spectrum disorder, intellectual disability) remains a great challenge. Recent advancements in genomics, such as whole-exome or whole-genome sequencing, have enabled scientists to identify numerous mutations underlying neurodevelopmental disorders. Given the few hundred risk genes that have been discovered, the etiological variability and the heterogeneous clinical presentation, the need for genotype-along with phenotype-based diagnosis of individual patients has become a requisite. In this review we look at recent advancements in genomic analysis and their translation into clinical practice.
    MeSH term(s) Biomedical Research ; Genomics ; Humans ; Models, Biological ; Neurodevelopmental Disorders/genetics ; Neurodevelopmental Disorders/therapy ; Precision Medicine
    Language English
    Publishing date 2018-08-07
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 1328915-9
    ISSN 2092-6413 ; 1226-3613 ; 0378-8512
    ISSN (online) 2092-6413
    ISSN 1226-3613 ; 0378-8512
    DOI 10.1038/s12276-018-0129-7
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 4775: Show issues Location:
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  6. Article ; Online: Molecular mechanisms for targeted ASD treatments.

    Basilico, Bernadette / Morandell, Jasmin / Novarino, Gaia

    Current opinion in genetics & development

    2020  Volume 65, Page(s) 126–137

    Abstract: The possibility to generate construct valid animal models enabled the development and testing of therapeutic strategies targeting the core features of autism spectrum disorders (ASDs). At the same time, these studies highlighted the necessity of ... ...

    Abstract The possibility to generate construct valid animal models enabled the development and testing of therapeutic strategies targeting the core features of autism spectrum disorders (ASDs). At the same time, these studies highlighted the necessity of identifying sensitive developmental time windows for successful therapeutic interventions. Animal and human studies also uncovered the possibility to stratify the variety of ASDs in molecularly distinct subgroups, potentially facilitating effective treatment design. Here, we focus on the molecular pathways emerging as commonly affected by mutations in diverse ASD-risk genes, on their role during critical windows of brain development and the potential treatments targeting these biological processes.
    MeSH term(s) Animals ; Autism Spectrum Disorder/genetics ; Autism Spectrum Disorder/pathology ; Autism Spectrum Disorder/therapy ; Humans ; Molecular Targeted Therapy ; Nerve Tissue Proteins/antagonists & inhibitors ; Nerve Tissue Proteins/genetics
    Chemical Substances Nerve Tissue Proteins
    Language English
    Publishing date 2020-07-10
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 1077312-5
    ISSN 1879-0380 ; 0959-437X
    ISSN (online) 1879-0380
    ISSN 0959-437X
    DOI 10.1016/j.gde.2020.06.004
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    Zs.A 3240: Show issues Location:
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  7. Article ; Online: Modeling cell-cell interactions in the brain using cerebral organoids.

    Oliveira, Bárbara / Çerağ Yahya, Aysan / Novarino, Gaia

    Brain research

    2019  Volume 1724, Page(s) 146458

    Abstract: Until recently, a great amount of brain studies have been conducted in human post mortem tissues, cell lines and model organisms. These researches provided useful insights regarding cell-cell interactions occurring in the brain. However, such approaches ... ...

    Abstract Until recently, a great amount of brain studies have been conducted in human post mortem tissues, cell lines and model organisms. These researches provided useful insights regarding cell-cell interactions occurring in the brain. However, such approaches suffer from technical limitations and inaccurate modeling of the tissue 3D cytoarchitecture. Importantly, they might lack a human genetic background essential for disease modeling. With the development of protocols to generate human cerebral organoids, we are now closer to reproducing the early stages of human brain development in vitro. As a result, more relevant cell-cell interaction studies can be conducted. In this review, we discuss the advantages of 3D cultures over 2D in modulating brain cell-cell interactions during physiological and pathological development, as well as the progress made in developing organoids in which neurons, macroglia, microglia and vascularization are present. Finally, we debate the limitations of those models and possible future directions.
    MeSH term(s) Brain/pathology ; Cell Communication/physiology ; Cell Culture Techniques/methods ; Humans ; Induced Pluripotent Stem Cells/cytology ; Microglia/metabolism ; Models, Biological ; Neurons/metabolism ; Organoids/metabolism
    Language English
    Publishing date 2019-09-12
    Publishing country Netherlands
    Document type Journal Article ; Review
    ZDB-ID 1200-2
    ISSN 1872-6240 ; 0006-8993
    ISSN (online) 1872-6240
    ISSN 0006-8993
    DOI 10.1016/j.brainres.2019.146458
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    Zs.A 161: Show issues Location:
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  8. Article ; Online: Neurodevelopmental Disorders: From Genetics to Functional Pathways.

    Parenti, Ilaria / Rabaneda, Luis G / Schoen, Hanna / Novarino, Gaia

    Trends in neurosciences

    2020  Volume 43, Issue 8, Page(s) 608–621

    Abstract: Neurodevelopmental disorders (NDDs) are a class of disorders affecting brain development and function and are characterized by wide genetic and clinical variability. In this review, we discuss the multiple factors that influence the clinical presentation ...

    Abstract Neurodevelopmental disorders (NDDs) are a class of disorders affecting brain development and function and are characterized by wide genetic and clinical variability. In this review, we discuss the multiple factors that influence the clinical presentation of NDDs, with particular attention to gene vulnerability, mutational load, and the two-hit model. Despite the complex architecture of mutational events associated with NDDs, the various proteins involved appear to converge on common pathways, such as synaptic plasticity/function, chromatin remodelers and the mammalian target of rapamycin (mTOR) pathway. A thorough understanding of the mechanisms behind these pathways will hopefully lead to the identification of candidates that could be targeted for treatment approaches.
    MeSH term(s) Humans ; Mutation ; Neurodevelopmental Disorders/genetics
    Language English
    Publishing date 2020-06-05
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 282488-7
    ISSN 1878-108X ; 0378-5912 ; 0166-2236
    ISSN (online) 1878-108X
    ISSN 0378-5912 ; 0166-2236
    DOI 10.1016/j.tins.2020.05.004
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 1442: Show issues Location:
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    Zs.MG 53: Show issues

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  9. Article ; Online: Neural stem cells in neuropsychiatric disorders.

    Sacco, Roberto / Cacci, Emanuele / Novarino, Gaia

    Current opinion in neurobiology

    2017  Volume 48, Page(s) 131–138

    Abstract: The precise control of neural stem cell (NSC) proliferation and differentiation is crucial for the development and function of the human brain. Here, we review the emerging links between the alteration of embryonic and adult neurogenesis and the etiology ...

    Abstract The precise control of neural stem cell (NSC) proliferation and differentiation is crucial for the development and function of the human brain. Here, we review the emerging links between the alteration of embryonic and adult neurogenesis and the etiology of neuropsychiatric disorders (NPDs) such as autism spectrum disorders (ASDs) and schizophrenia (SCZ), as well as the advances in stem cell-based modeling and the novel therapeutic targets derived from these studies.
    MeSH term(s) Animals ; Autism Spectrum Disorder/pathology ; Autism Spectrum Disorder/therapy ; Cell Differentiation/physiology ; Cell Proliferation/physiology ; Humans ; Neural Stem Cells/physiology ; Neural Stem Cells/transplantation ; Neurogenesis/physiology ; Schizophrenia/pathology ; Schizophrenia/therapy
    Language English
    Publishing date 2017-12-26
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 1078046-4
    ISSN 1873-6882 ; 0959-4388
    ISSN (online) 1873-6882
    ISSN 0959-4388
    DOI 10.1016/j.conb.2017.12.005
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 3260: Show issues Location:
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  10. Article ; Online: CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63.

    Marsh, Ashley P L / Novarino, Gaia / Lockhart, Paul J / Leventer, Richard J

    European journal of human genetics : EJHG

    2018  Volume 27, Issue 1, Page(s) 161–166

    Abstract: 1. NAME OF DISEASE (SYNONYMS): Pontocerebellar hypoplasia type 9 (PCH9) and spastic paraplegia-63 (SPG63). 2. OMIM# OF THE DISEASE: 615809 and 615686. 3. NAME OF THE ANALYSED GENES OR DNA/CHROMOSOME SEGMENTS: AMPD2 at 1p13.3. 4. OMIM# OF THE GENE(S): ... ...

    Abstract 1. NAME OF DISEASE (SYNONYMS): Pontocerebellar hypoplasia type 9 (PCH9) and spastic paraplegia-63 (SPG63). 2. OMIM# OF THE DISEASE: 615809 and 615686. 3. NAME OF THE ANALYSED GENES OR DNA/CHROMOSOME SEGMENTS: AMPD2 at 1p13.3. 4. OMIM# OF THE GENE(S): 102771.
    MeSH term(s) AMP Deaminase/genetics ; Cerebellar Diseases/genetics ; Cerebellar Diseases/pathology ; Genetic Testing/methods ; Genetic Testing/standards ; Humans ; Mutation ; Paraplegia/genetics ; Paraplegia/pathology ; Sensitivity and Specificity
    Chemical Substances AMP Deaminase (EC 3.5.4.6) ; AMPD2 protein, human (EC 3.5.4.6)
    Language English
    Publishing date 2018-08-08
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1141470-4
    ISSN 1476-5438 ; 1018-4813
    ISSN (online) 1476-5438
    ISSN 1018-4813
    DOI 10.1038/s41431-018-0231-2
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 3589: Show issues Location:
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