Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms.
Sign Up to like & getrecommendations! 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
Functional assessment of the “two-hit” model for neurodevelopmental defects in Drosophila and X. laevis
Sign Up to like & getrecommendations! 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
Neurodevelopmental defects as a primer of neurodegeneration: lessons from spinal muscular atrophy and Huntington’s disease
Sign Up to like & getrecommendations! 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