Neurodevelopmental disorders: from genetics to functional pathways

I Parenti, LG Rabaneda, H Schoen, G Novarino - Trends in Neurosciences, 2020 - cell.com
Neurodevelopmental disorders (NDDs) are a class of disorders affecting brain development
and function and are characterized by wide genetic and clinical variability. In this review, we …

Mammalian/mechanistic target of rapamycin (mTOR) complexes in neurodegeneration

H Querfurth, HK Lee - Molecular neurodegeneration, 2021 - Springer
Novel targets to arrest neurodegeneration in several dementing conditions involving
misfolded protein accumulations may be found in the diverse signaling pathways of the …

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 …

Effect of rapamycin on aging and age-related diseases—past and future

R Selvarani, S Mohammed, A Richardson - Geroscience, 2021 - Springer
In 2009, rapamycin was reported to increase the lifespan of mice when implemented later in
life. This observation resulted in a sea-change in how researchers viewed aging. This was …

Advancing the understanding of autism disease mechanisms through genetics

L de la Torre-Ubieta, H Won, JL Stein… - Nature medicine, 2016 - nature.com
Progress in understanding the genetic etiology of autism spectrum disorders (ASD) has
fueled remarkable advances in our understanding of its potential neurobiological …

Excitatory/inhibitory balance and circuit homeostasis in autism spectrum disorders

SB Nelson, V Valakh - Neuron, 2015 - cell.com
Autism spectrum disorders (ASDs) and related neurological disorders are associated with
mutations in many genes affecting the ratio between neuronal excitation and inhibition …

Targeting the “hallmarks of aging” to slow aging and treat age-related disease: fact or fiction?

M Keshavarz, K Xie, K Schaaf, D Bano… - Molecular …, 2023 - nature.com
Aging is a major risk factor for a number of chronic diseases, including neurodegenerative
and cerebrovascular disorders. Aging processes have therefore been discussed as potential …

[HTML][HTML] Loss of mTOR-dependent macroautophagy causes autistic-like synaptic pruning deficits

G Tang, K Gudsnuk, SH Kuo, ML Cotrina, G Rosoklija… - Neuron, 2014 - cell.com
Developmental alterations of excitatory synapses are implicated in autism spectrum
disorders (ASDs). Here, we report increased dendritic spine density with reduced …

Synaptopathology involved in autism spectrum disorder

S Guang, N Pang, X Deng, L Yang, F He… - Frontiers in cellular …, 2018 - frontiersin.org
Autism spectrum disorder (ASD) encompasses a group of multifactorial neurodevelopmental
disorders characterized by impaired social communication, social interaction and repetitive …

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 …