Semaphorins and their signaling mechanisms

LT Alto, JR Terman - Semaphorin Signaling: Methods and Protocols, 2017‏ - Springer
Semaphorins are extracellular signaling proteins that are essential for the development and
maintenance of many organs and tissues. The more than 20-member semaphorin protein …

Neurobiological bases of autism–epilepsy comorbidity: a focus on excitation/inhibition imbalance

Y Bozzi, G Provenzano… - European Journal of …, 2018‏ - Wiley Online Library
Autism spectrum disorders (ASD) and epilepsy are common neurological diseases of
childhood, with an estimated incidence of approximately 0.5–1% of the worldwide …

Semaphorins in adult nervous system plasticity and disease

D Carulli, F De Winter, J Verhaagen - Frontiers in synaptic …, 2021‏ - frontiersin.org
Semaphorins, originally discovered as guidance cues for develo** axons, are involved in
many processes that shape the nervous system during development, from neuronal …

De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP

KR Veeramah, JE O'Brien, MH Meisler, X Cheng… - The American Journal of …, 2012‏ - cell.com
Individuals with severe, sporadic disorders of infantile onset represent an important class of
disease for which discovery of the underlying genetic architecture is not amenable to …

Common circuit defect of excitatory-inhibitory balance in mouse models of autism

N Gogolla, JJ LeBlanc, KB Quast, TC Südhof… - Journal of …, 2009‏ - Springer
One unifying explanation for the complexity of Autism Spectrum Disorders (ASD) may lie in
the disruption of excitatory/inhibitory (E/I) circuit balance during critical periods of …

Biology of GDNF and its receptors—relevance for disorders of the central nervous system

CF Ibáñez, JO Andressoo - Neurobiology of disease, 2017‏ - Elsevier
A targeted effort to identify novel neurotrophic factors for midbrain dopaminergic neurons
resulted in the isolation of GDNF (glial cell line-derived neurotrophic factor) from the …

Lack of parvalbumin in mice leads to behavioral deficits relevant to all human autism core symptoms and related neural morphofunctional abnormalities

M Wöhr, D Orduz, P Gregory, H Moreno, U Khan… - Translational …, 2015‏ - nature.com
Gene mutations and gene copy number variants are associated with autism spectrum
disorders (ASDs). Affected gene products are often part of signaling networks implicated in …

Cellular and molecular mechanisms controlling the migration of neocortical interneurons

O Marín - European Journal of Neuroscience, 2013‏ - Wiley Online Library
The discovery, approximately 15 years ago, that cortical GABA ergic interneurons originate
outside the pallium has revolutionized our understanding of the development of the cerebral …

Guidance molecules in synapse formation and plasticity

K Shen, CW Cowan - Cold Spring Harbor perspectives …, 2010‏ - cshperspectives.cshlp.org
A major goal of modern neuroscience research is to understand the cellular and molecular
processes that control the formation, function, and remodeling of chemical synapses. In this …

Plexin structures are coming: opportunities for multilevel investigations of semaphorin guidance receptors, their cell signaling mechanisms, and functions

PK Hota, M Buck - Cellular and Molecular Life Sciences, 2012‏ - Springer
Plexin transmembrane receptors and their semaphorin ligands, as well as their co-receptors
(Neuropilin, Integrin, VEGFR2, ErbB2, and Met kinase) are emerging as key regulatory …