Autism spectrum disorder: neuropathology and animal models

M Varghese, N Keshav, S Jacot-Descombes… - Acta …, 2017 - Springer
Autism spectrum disorder (ASD) has a major impact on the development and social
integration of affected individuals and is the most heritable of psychiatric disorders. An …

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 …

mTOR-related synaptic pathology causes autism spectrum disorder-associated functional hyperconnectivity

M Pagani, N Barsotti, A Bertero, S Trakoshis… - Nature …, 2021 - nature.com
Postmortem studies have revealed increased density of excitatory synapses in the brains of
individuals with autism spectrum disorder (ASD), with a putative link to aberrant mTOR …

Neurological and neuropsychiatric aspects of tuberous sclerosis complex

P Curatolo, R Moavero, PJ de Vries - The Lancet Neurology, 2015 - thelancet.com
Tuberous sclerosis (also known as tuberous sclerosis complex [TSC]) is a multisystem
genetic disorder that affects almost every organ in the body. Mutations in the TSC1 or TSC2 …

Common mechanisms of excitatory and inhibitory imbalance in schizophrenia and autism spectrum disorders

R Gao, P Penzes - Current molecular medicine, 2015 - ingentaconnect.com
Autism Spectrum Disorders (ASD) and Schizophrenia (SCZ) are cognitive disorders with
complex genetic architectures but overlapping behavioral phenotypes, which suggests …

[HTML][HTML] Dendritic structural plasticity and neuropsychiatric disease

MP Forrest, E Parnell, P Penzes - Nature Reviews Neuroscience, 2018 - nature.com
The structure of neuronal circuits that subserve cognitive functions in the brain is shaped
and refined throughout development and into adulthood. Evidence from human and animal …

Epilepsy in the mTORopathies: opportunities for precision medicine

PB Moloney, GL Cavalleri, N Delanty - Brain communications, 2021 - academic.oup.com
The mechanistic target of rapamycin signalling pathway serves as a ubiquitous regulator of
cell metabolism, growth, proliferation and survival. The main cellular activity of the …

[HTML][HTML] The mTOR signalling cascade: paving new roads to cure neurological disease

PB Crino - Nature Reviews Neurology, 2016 - nature.com
Defining the multiple roles of the mechanistic (formerly'mammalian') target of rapamycin
(mTOR) signalling pathway in neurological diseases has been an exciting and rapidly …

[HTML][HTML] 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 …

[HTML][HTML] Dendritic spine pathology in neuropsychiatric disorders

P Penzes, ME Cahill, KA Jones, JE VanLeeuwen… - Nature …, 2011 - nature.com
Substantial progress has been made toward understanding the genetic architecture, cellular
substrates, brain circuits and endophenotypic profiles of neuropsychiatric disorders …