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Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms.

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1 Published in 2022 at "Human molecular genetics"

DOI: 10.1093/hmg/ddac070

Abstract: The Roundabout (Robo) receptors, located on growth cones of neurons, induce axon repulsion in response to the extracellular ligand Slit. The Robo family of proteins controls midline crossing of commissural neurons during development in flies.… read more here.

Keywords: human robo1; robo1; t2a gal4; variants human ... See more keywords

Flip of the Switch: Targeting GABA Dysregulation to Treat Nonseizure Comorbidities in Dravet Syndrome.

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0 Published in 2025 at "Epilepsy currents"

DOI: 10.1177/15357597251389967

Abstract: Neurodevelopmental Defects in Dravet Syndrome Scn1a+/Mice: Targeting GABA-Switch Rescues Behavioral Dysfunctions but Not Seizures and Mortality. Pizzamiglio L, Capitano F, Rusina E, Fossati G, Menna E, Léna I, Antonucci F, Mantegazza M. Neurobiol Dis .… read more here.

Keywords: dravet syndrome; gaba switch; targeting gaba; flip switch ... See more keywords

Functional assessment of the “two-hit” model for neurodevelopmental defects in Drosophila and X. laevis

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0 Published in 2021 at "PLoS Genetics"

DOI: 10.1371/journal.pgen.1009112

Abstract: We previously identified a deletion on chromosome 16p12.1 that is mostly inherited and associated with multiple neurodevelopmental outcomes, where severely affected probands carried an excess of rare pathogenic variants compared to mildly affected carrier parents.… read more here.

Keywords: neurodevelopmental defects; phenotypic; second hit; hit genes ... See more keywords

Roles of LRRK2 and its orthologs in protecting against neurodegeneration and neurodevelopmental defects

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0 Published in 2025 at "Frontiers in Cell and Developmental Biology"

DOI: 10.3389/fcell.2025.1569733

Abstract: In humans, variants in the LRRK2 gene are the most prevalent risk factors for Parkinson’s disease (PD). Whereas studies in model organisms have long indicated that the orthologs of the wild-type LRRK proteins protect against… read more here.

Keywords: lrrk2 orthologs; lrrk proteins; roles lrrk2; neurodegeneration neurodevelopmental ... See more keywords

Neurodevelopmental defects as a primer of neurodegeneration: lessons from spinal muscular atrophy and Huntington’s disease

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1 Published in 2023 at "Neural Regeneration Research"

DOI: 10.4103/1673-5374.367844

Abstract: Developmental motifs in neurodegeneration: Neurodegeneration, the prominent feature of neurodegenerative disease, is characterized by the progressive and selective loss of neuronal function. As some of the pathologies caused by neurodegeneration may be irreversible, early intervention… read more here.

Keywords: neurodevelopmental defects; primer neurodegeneration; defects primer; disease ... See more keywords