Dévina C. Ung
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View article: Missense variants in DPYSL5 associated with neurodevelopmental disorders and brain malformations cause impaired neuronal maturation in vitro
Missense variants in DPYSL5 associated with neurodevelopmental disorders and brain malformations cause impaired neuronal maturation in vitro Open
View article: The PTCHD1 protein: A prominent actor in brain function and in neurodevelopmental disorders
The PTCHD1 protein: A prominent actor in brain function and in neurodevelopmental disorders Open
View article: GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses
GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses Open
View article: Contribution of the dihydropyrimidinase-like proteins family in synaptic physiology and in neurodevelopmental disorders
Contribution of the dihydropyrimidinase-like proteins family in synaptic physiology and in neurodevelopmental disorders Open
The dihydropyrimidinase-like (DPYSL) proteins, also designated as the collapsin response mediators (CRMP) proteins, constitute a family of five cytosolic phosphoproteins abundantly expressed in the developing nervous system but down-regula…
View article: Study of Ubiquitin Pathway Genes in a French Population with Amyotrophic Lateral Sclerosis: Focus on HECW1 Encoding the E3 Ligase NEDL1
Study of Ubiquitin Pathway Genes in a French Population with Amyotrophic Lateral Sclerosis: Focus on HECW1 Encoding the E3 Ligase NEDL1 Open
The ubiquitin pathway, one of the main actors regulating cell signaling processes and cellular protein homeostasis, is directly involved in the pathophysiology of amyotrophic lateral sclerosis (ALS). We first analyzed, by a next-generation…
View article: <i>GRID1/</i>GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses
<i>GRID1/</i>GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses Open
The ionotropic glutamate delta receptor GluD1, encoded by the GRID1 gene, is involved in synapse formation, function, and plasticity. GluD1 does not bind glutamate, but instead cerebellin and D-serine, which allow the formation of trans-sy…
View article: Developmental and Behavioral Phenotypes in a Mouse Model of DDX3X Syndrome
Developmental and Behavioral Phenotypes in a Mouse Model of DDX3X Syndrome Open
View article: Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder
Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder Open
The X-linked PTCHD1 gene, encoding a synaptic membrane protein, has been involved in neurodevelopmental disorders with the description of deleterious genomic microdeletions or truncating coding mutations. Missense variants were also identi…
View article: Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth
Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth Open
View article: Deciphering DDX3X Syndrome to Capture Determinants of Intellectual Disability
Deciphering DDX3X Syndrome to Capture Determinants of Intellectual Disability Open
View article: Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse
Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse Open
Synapse development and neuronal activity represent fundamental processes for the establishment of cognitive function. Structural organization as well as signalling pathways from receptor stimulation to gene expression regulation are media…