Comparison of SHANK3 deficiency in animal models: phenotypes, treatment strategies, and translational implications
JP Delling, TM Boeckers - Journal of Neurodevelopmental Disorders, 2021 - Springer
Background Autism spectrum disorder (ASD) is a neurodevelopmental condition, which is
characterized by clinical heterogeneity and high heritability. Core symptoms of ASD include …
characterized by clinical heterogeneity and high heritability. Core symptoms of ASD include …
Abnormal mTOR activation in autism
KD Winden, D Ebrahimi-Fakhari… - Annual review of …, 2018 - annualreviews.org
The mechanistic target of rapamycin (mTOR) is an important signaling hub that integrates
environmental information regarding energy availability and stimulates anabolic molecular …
environmental information regarding energy availability and stimulates anabolic molecular …
Proteomics and metabolomics approaches towards a functional insight onto AUTISM spectrum disorders: phenotype stratification and biomarker discovery
MV Ristori, SL Mortera, V Marzano, S Guerrera… - International journal of …, 2020 - mdpi.com
Autism spectrum disorders (ASDs) are neurodevelopmental disorders characterized by
behavioral alterations and currently affect about 1% of children. Significant genetic factors …
behavioral alterations and currently affect about 1% of children. Significant genetic factors …
SHANK3 deficiency leads to myelin defects in the central and peripheral nervous system
M Malara, AK Lutz, B Incearap, HF Bauer… - Cellular and Molecular …, 2022 - Springer
Mutations or deletions of the SHANK3 gene are causative for Phelan–McDermid syndrome
(PMDS), a syndromic form of autism spectrum disorders (ASDs). We analyzed Shank3Δ11 …
(PMDS), a syndromic form of autism spectrum disorders (ASDs). We analyzed Shank3Δ11 …
Excitatory and inhibitory synaptic dysfunction in mania: an emerging hypothesis from animal model studies
Bipolar disorder (BD) is a common psychiatric disorder characterized by recurrent mood
swings between depression and mania, and is associated with high treatment costs. The …
swings between depression and mania, and is associated with high treatment costs. The …
Suppression of Akt-mTOR pathway rescued the social behavior in Cntnap2-deficient mice
X Xing, J Zhang, K Wu, B Cao, X Li, F Jiang, Z Hu… - Scientific reports, 2019 - nature.com
Autism spectrum disorders (ASD) form a heterogeneous, neurodevelopmental syndrome
characterized by deficits in social interactions and repetitive behavior/restricted interests …
characterized by deficits in social interactions and repetitive behavior/restricted interests …
Protein translation and psychiatric disorders
S Laguesse, D Ron - The Neuroscientist, 2020 - journals.sagepub.com
Although historically research has focused on transcription as the central governor of protein
expression, protein translation is now increasingly being recognized as a major factor for …
expression, protein translation is now increasingly being recognized as a major factor for …
ADNP plays a key role in autophagy: from autism to schizophrenia and Alzheimer's disease
S Sragovich, A Merenlender‐Wagner, I Gozes - Bioessays, 2017 - Wiley Online Library
Activity‐dependent neuroprotective protein (ADNP), discovered in our laboratory in 1999,
has been characterized as a master gene vital for mammalian brain formation. ADNP de …
has been characterized as a master gene vital for mammalian brain formation. ADNP de …
GABA Neuronal Deletion of Shank3 Exons 14–16 in Mice Suppresses Striatal Excitatory Synaptic Input and Induces Social and Locomotor Abnormalities
Shank3 is an excitatory postsynaptic scaffolding protein implicated in multiple brain
disorders, including autism spectrum disorders (ASD) and Phelan-McDermid syndrome …
disorders, including autism spectrum disorders (ASD) and Phelan-McDermid syndrome …
Shank3 Exons 14–16 Deletion in Glutamatergic Neurons Leads to Social and Repetitive Behavioral Deficits Associated With Increased Cortical Layer 2/3 Neuronal …
Shank3, an abundant excitatory postsynaptic scaffolding protein, has been associated with
multiple brain disorders, including autism spectrum disorders (ASD) and Phelan-McDermid …
multiple brain disorders, including autism spectrum disorders (ASD) and Phelan-McDermid …