The synapse in traumatic brain injury

AAB Jamjoom, J Rhodes, PJD Andrews, SGN Grant - Brain, 2021 - academic.oup.com
Traumatic brain injury (TBI) is a leading cause of death and disability worldwide and is a risk
factor for dementia later in life. Research into the pathophysiology of TBI has focused on the …

Amyloid-beta and phosphorylated tau accumulations cause abnormalities at synapses of Alzheimer's disease neurons

R Rajmohan, PH Reddy - Journal of Alzheimer's Disease, 2017 - content.iospress.com
Amyloid-beta (Aß) and hyperphosphorylated tau are hallmark lesions of Alzheimer's disease
(AD). However, the loss of synapses and dysfunctions of neurotransmission are more …

[PDF][PDF] SynGO: an evidence-based, expert-curated knowledge base for the synapse

F Koopmans, P van Nierop, M Andres-Alonso… - Neuron, 2019 - cell.com
Synapses are fundamental information-processing units of the brain, and synaptic
dysregulation is central to many brain disorders (" synaptopathies"). However, systematic …

Genetic identification of brain cell types underlying schizophrenia

NG Skene, J Bryois, TE Bakken, G Breen, JJ Crowley… - Nature …, 2018 - nature.com
With few exceptions, the marked advances in knowledge about the genetic basis of
schizophrenia have not converged on findings that can be confidently used for precise …

Synaptic, transcriptional and chromatin genes disrupted in autism

S De Rubeis, X He, AP Goldberg, CS Poultney… - Nature, 2014 - nature.com
The genetic architecture of autism spectrum disorder involves the interplay of common and
rare variants and their impact on hundreds of genes. Using exome sequencing, here we …

A large-scale nanoscopy and biochemistry analysis of postsynaptic dendritic spines

MS Helm, TM Dankovich, S Mandad, B Rammner… - Nature …, 2021 - nature.com
Dendritic spines, the postsynaptic compartments of excitatory neurotransmission, have
different shapes classified from 'stubby'to 'mushroom-like'. Whereas mushroom spines are …

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

SJ Sanders, MT Murtha, AR Gupta, JD Murdoch… - Nature, 2012 - nature.com
Multiple studies have confirmed the contribution of rare de novo copy number variations to
the risk for autism spectrum disorders,,. But whereas de novo single nucleotide variants …

Patterns and rates of exonic de novo mutations in autism spectrum disorders

BM Neale, Y Kou, L Liu, A Ma'Ayan, KE Samocha… - Nature, 2012 - nature.com
Autism spectrum disorders (ASD) are believed to have genetic and environmental origins,
yet in only a modest fraction of individuals can specific causes be identified,. To identify …

α-synuclein interacts with PrPC to induce cognitive impairment through mGluR5 and NMDAR2B

DG Ferreira, M Temido-Ferreira… - Nature …, 2017 - nature.com
Synucleinopathies, such as Parkinson's disease and dementia with Lewy bodies, are
neurodegenerative disorders that are characterized by the accumulation of α-synuclein …

Molecular pathogenesis of the tauopathies

J Götz, G Halliday, RM Nisbet - Annual Review of Pathology …, 2019 - annualreviews.org
The tauopathies constitute a group of diseases that have Tau inclusions in neurons or glia
as their common denominator. In this review, we describe the biochemical and histological …