Associated Papers
Missense variants in DPYSL5 associated with neurodevelopmental disorders and brain malformations cause impaired neuronal maturation in vitro.
Desprez F et al.
Molecular Psychiatry, 2025
The ataxia-telangiectasia disease protein ATM controls vesicular protein secretion via CHGA and microtubule dynamics via CRMP5.
Reichlmeir M et al.
Neurobiology of Disease, 2024
Contribution of the dihydropyrimidinase-like proteins family in synaptic physiology and in neurodevelopmental disorders.
Desprez F et al.
Frontiers in Neuroscience, 2023
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.
Jeanne M et al.
American Journal of Human Genetics, 2021
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