The neurology of mTOR

JO Lipton, M Sahin - Neuron, 2014 - cell.com
The mechanistic target of rapamycin (mTOR) signaling pathway is a crucial cellular
signaling hub that, like the nervous system itself, integrates internal and external cues to …

Disentangling the heterogeneity of autism spectrum disorder through genetic findings

SS Jeste, DH Geschwind - Nature Reviews Neurology, 2014 - nature.com
Autism spectrum disorder (ASD) represents a heterogeneous group of disorders, which
presents a substantial challenge to diagnosis and treatment. Over the past decade …

Elevated protein synthesis in microglia causes autism-like synaptic and behavioral aberrations

ZX Xu, GH Kim, JW Tan, AE Riso, Y Sun, EY Xu… - Nature …, 2020 - nature.com
Mutations that inactivate negative translation regulators cause autism spectrum disorders
(ASD), which predominantly affect males and exhibit social interaction and communication …

Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice

PT Tsai, C Hull, YX Chu, E Greene-Colozzi… - Nature, 2012 - nature.com
Autism spectrum disorders (ASDs) are highly prevalent neurodevelopmental disorders, but
the underlying pathogenesis remains poorly understood. Recent studies have implicated the …

The cerebellar involvement in autism spectrum disorders: from the social brain to mouse models

L Mapelli, T Soda, E D'Angelo, F Prestori - International Journal of …, 2022 - mdpi.com
Autism spectrum disorders (ASD) are pervasive neurodevelopmental disorders that include
a variety of forms and clinical phenotypes. This heterogeneity complicates the clinical and …

Lessons learned from studying syndromic autism spectrum disorders

Y Sztainberg, HY Zoghbi - Nature neuroscience, 2016 - nature.com
Syndromic autism spectrum disorders represent a group of childhood neurological
conditions, typically associated with chromosomal abnormalities or mutations in a single …

Autism-related deficits via dysregulated eIF4E-dependent translational control

CG Gkogkas, A Khoutorsky, I Ran, E Rampakakis… - Nature, 2013 - nature.com
Hyperconnectivity of neuronal circuits due to increased synaptic protein synthesis is thought
to cause autism spectrum disorders (ASDs). The mammalian target of rapamycin (mTOR) is …

[HTML][HTML] Autism spectrum disorders—a genetics review

JH Miles - Genetics in Medicine, 2011 - Elsevier
Autism is an etiologically and clinically heterogeneous group of disorders, diagnosed solely
by the complex behavioral phenotype. On the basis of the high-heritability index, geneticists …

Characterizing the interplay between autism spectrum disorder and comorbid medical conditions: An integrative review

C Tye, AK Runicles, AJO Whitehouse… - Frontiers in …, 2019 - frontiersin.org
Co-occurring medical disorders and associated physiological abnormalities in individuals
with autism spectrum disorder (ASD) may provide insight into causal pathways or underlying …

Excitatory/inhibitory imbalance in autism spectrum disorders: Implications for interventions and therapeutics

G Uzunova, S Pallanti, E Hollander - The World Journal of …, 2016 - Taylor & Francis
Objectives: Imbalance between excitation and inhibition and increased excitatory-inhibitory
(EI) ratio is a common mechanism in autism spectrum disorders (ASD) that is responsible for …