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 …
and function and are characterized by wide genetic and clinical variability. In this review, we …
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 …
mutations in many genes affecting the ratio between neuronal excitation and inhibition …
[HTML][HTML] Loss of mTOR-dependent macroautophagy causes autistic-like synaptic pruning deficits
Developmental alterations of excitatory synapses are implicated in autism spectrum
disorders (ASDs). Here, we report increased dendritic spine density with reduced …
disorders (ASDs). Here, we report increased dendritic spine density with reduced …
Advancing the understanding of autism disease mechanisms through genetics
Progress in understanding the genetic etiology of autism spectrum disorders (ASD) has
fueled remarkable advances in our understanding of its potential neurobiological …
fueled remarkable advances in our understanding of its potential neurobiological …
Behavioural phenoty** assays for mouse models of autism
Autism is a heterogeneous neurodevelopmental disorder of unknown aetiology that affects 1
in 100–150 individuals. Diagnosis is based on three categories of behavioural criteria …
in 100–150 individuals. Diagnosis is based on three categories of behavioural criteria …
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 …
misfolded protein accumulations may be found in the diverse signaling pathways of the …
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 …
signaling hub that, like the nervous system itself, integrates internal and external cues to …
[HTML][HTML] Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits
O Peñagarikano, BS Abrahams, EI Herman… - Cell, 2011 - cell.com
Although many genes predisposing to autism spectrum disorders (ASD) have been
identified, the biological mechanism (s) remain unclear. Mouse models based on human …
identified, the biological mechanism (s) remain unclear. Mouse models based on human …
mTOR signaling: at the crossroads of plasticity, memory and disease
Mammalian target of rapamycin (mTOR) is a protein kinase involved in translation control
and long-lasting synaptic plasticity. mTOR functions as the central component of two multi …
and long-lasting synaptic plasticity. mTOR functions as the central component of two multi …
Microbial drug discovery: 80 years of progress
AL Demain, S Sanchez - The Journal of antibiotics, 2009 - nature.com
Microbes have made a phenomenal contribution to the health and well-being of people
throughout the world. In addition to producing many primary metabolites, such as amino …
throughout the world. In addition to producing many primary metabolites, such as amino …