3 results on '"Anjali Amrapali Vishwanath"'
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2. Understanding intellectual disability and autism spectrum disorders from common mouse models: synapses to behaviour
- Author
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Vijaya Verma, Abhik Paul, Anjali Amrapali Vishwanath, Bhupesh Vaidya, and James P. Clement
- Subjects
autism spectrum disorders ,intellectual disability ,syngap1 ,fragile x mental retardation protein ,mecp2 ,neuroligin ,Biology (General) ,QH301-705.5 - Abstract
Normal brain development is highly dependent on the timely coordinated actions of genetic and environmental processes, and an aberration can lead to neurodevelopmental disorders (NDDs). Intellectual disability (ID) and autism spectrum disorders (ASDs) are a group of co-occurring NDDs that affect between 3% and 5% of the world population, thus presenting a great challenge to society. This problem calls for the need to understand the pathobiology of these disorders and to design new therapeutic strategies. One approach towards this has been the development of multiple analogous mouse models. This review discusses studies conducted in the mouse models of five major monogenic causes of ID and ASDs: Fmr1, Syngap1, Mecp2, Shank2/3 and Neuroligins/Neurnexins. These studies reveal that, despite having a diverse molecular origin, the effects of these mutations converge onto similar or related aetiological pathways, consequently giving rise to the typical phenotype of cognitive, social and emotional deficits that are characteristic of ID and ASDs. This convergence, therefore, highlights common pathological nodes that can be targeted for therapy. Other than conventional therapeutic strategies such as non-pharmacological corrective methods and symptomatic alleviation, multiple studies in mouse models have successfully proved the possibility of pharmacological and genetic therapy enabling functional recovery.
- Published
- 2019
- Full Text
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3. The presynaptic glycine transporter GlyT2 is regulated by the Hedgehog pathway in vitro and in vivo
- Author
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Jaime de Juan-Sanz, Anjali Amrapali Vishwanath, Andrés de la Rocha-Muñoz, Beatriz López-Corcuera, Carmen Aragón, Dhanasak Dhanasobhon, Nelson Rebola, Enrique Núñez, Sergio Gomez-Lopez, Universidad Autónoma de Madrid (UAM), Hospital Universitario La Paz, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centro de Biología Molecular Severo Ochoa [Madrid] (CBMSO), Universidad Autónoma de Madrid (UAM)-Consejo Superior de Investigaciones Científicas [Madrid] (CSIC), HAL-SU, Gestionnaire, UAM. Departamento de Biología Molecular, Universidad Autonoma de Madrid (UAM), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Universidad Autonoma de Madrid (UAM)-Consejo Superior de Investigaciones Científicas [Madrid] (CSIC), Ministerio de Economía y Competitividad (España), Fundación Ramón Areces, and Banco Santander
- Subjects
Embryo, Nonmammalian ,Glycine Transporter ,[SDV]Life Sciences [q-bio] ,Wistar ,Medicine (miscellaneous) ,Glycine transporter ,0302 clinical medicine ,Glycine Plasma Membrane Transport Proteins ,Hyperekplexia ,Biology (General) ,Transporters in the nervous system ,Glycine receptor ,Zebrafish ,0303 health sciences ,Sonic Hedgehog Protein ,Nonmammalian ,Chemistry ,SLC6A5 Protein ,Biología y Biomedicina / Biología ,Hedgehog signaling pathway ,3. Good health ,Cell biology ,[SDV] Life Sciences [q-bio] ,Embryo ,embryonic structures ,Zebrafish Protein ,medicine.symptom ,General Agricultural and Biological Sciences ,Signal Transduction ,animal structures ,QH301-705.5 ,Neurotransmission ,General Biochemistry, Genetics and Molecular Biology ,Article ,03 medical and health sciences ,medicine ,Animals ,Hedgehog Proteins ,Rats, Wistar ,Hedgehog ,030304 developmental biology ,Zebrafish Proteins ,Cellular neuroscience ,Rats ,Metabolism ,Glycine ,Rat ,Glycinergic synapse ,030217 neurology & neurosurgery - Abstract
The identity of a glycinergic synapse is maintained presynaptically by the activity of a surface glycine transporter, GlyT2, which recaptures glycine back to presynaptic terminals to preserve vesicular glycine content. GlyT2 loss-of-function mutations cause Hyperekplexia, a rare neurological disease in which loss of glycinergic neurotransmission causes generalized stiffness and strong motor alterations. However, the molecular underpinnings controlling GlyT2 activity remain poorly understood. In this work, we identify the Hedgehog pathway as a robust controller of GlyT2 expression and transport activity. Modulating the activation state of the Hedgehog pathway in vitro in rodent primary spinal cord neurons or in vivo in zebrafish embryos induced a selective control in GlyT2 expression, regulating GlyT2 transport activity. Our results indicate that activation of Hedgehog reduces GlyT2 expression by increasing its ubiquitination and degradation. This work describes a new molecular link between the Hedgehog signaling pathway and presynaptic glycine availability., By modulating the activation state of the Hedgehog pathway, de la Rocha-Muñoz et al demonstrate that Hedgehog signaling controls the expression and transport activity of the neuronal glycine transporter GlyT2. This work begins to reveal a potential link between the Hedgehog signaling pathway and presynaptic glycine availability.
- Published
- 2021
- Full Text
- View/download PDF
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