[HTML][HTML] A synaptic perspective of fragile X syndrome and autism spectrum disorders

C Bagni, RS Zukin - Neuron, 2019 - cell.com
Altered synaptic structure and function is a major hallmark of fragile X syndrome (FXS),
autism spectrum disorders (ASDs), and other intellectual disabilities (IDs), which are …

Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome

EM Berry-Kravis, L Lindemann, AE Jønch… - Nature reviews Drug …, 2018 - nature.com
Neurodevelopmental disorders such as fragile X syndrome (FXS) result in lifelong cognitive
and behavioural deficits and represent a major public health burden. FXS is the most …

[HTML][HTML] Rescue of fragile X syndrome neurons by DNA methylation editing of the FMR1 gene

XS Liu, H Wu, M Krzisch, X Wu, J Graef, J Muffat… - Cell, 2018 - cell.com
Fragile X syndrome (FXS), the most common genetic form of intellectual disability in males,
is caused by silencing of the FMR1 gene associated with hypermethylation of the CGG …

Behavioural phenotyping assays for mouse models of autism

JL Silverman, M Yang, C Lord… - Nature Reviews …, 2010 - nature.com
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 …

PAK signalling during the development and progression of cancer

M Radu, G Semenova, R Kosoff, J Chernoff - Nature reviews Cancer, 2014 - nature.com
Abstract p21-activated kinases (PAKs) are positioned at the nexus of several oncogenic
signalling pathways. Overexpression or mutational activation of PAK isoforms frequently …

[HTML][HTML] The intense world theory–a unifying theory of the neurobiology of autism

K Markram, H Markram - Frontiers in human neuroscience, 2010 - frontiersin.org
Autism covers a wide spectrum of disorders for which there are many views, hypotheses and
theories. Here we propose a unifying theory of autism, the Intense World Theory. The …

Dendrite and spine modifications in autism and related neurodevelopmental disorders in patients and animal models

V Martínez‐Cerdeño - Developmental neurobiology, 2017 - Wiley Online Library
Dendrites and spines are the main neuronal structures receiving input from other neurons
and glial cells. Dendritic and spine number, size, and morphology are some of the crucial …

[HTML][HTML] Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics

C Bagni, F Tassone, G Neri… - The Journal of clinical …, 2012 - Am Soc Clin Investig
Fragile X syndrome (FXS) is the most frequent form of inherited intellectual disability and is
also linked to other neurologic and psychiatric disorders. FXS is caused by a triplet …

[HTML][HTML] Genetic removal of p70 S6 kinase 1 corrects molecular, synaptic, and behavioral phenotypes in fragile X syndrome mice

A Bhattacharya, H Kaphzan, AC Alvarez-Dieppa… - Neuron, 2012 - cell.com
Fragile X syndrome (FXS) is the leading inherited cause of autism and intellectual disability.
Aberrant synaptic translation has been implicated in the etiology of FXS, but most lines of …

[HTML][HTML] Repetitive self-grooming behavior in the BTBR mouse model of autism is blocked by the mGluR5 antagonist MPEP

JL Silverman, SS Tolu, CL Barkan… - …, 2010 - nature.com
Autism is a neurodevelopmental disorder characterized by abnormal reciprocal social
interactions, communication deficits, and repetitive behaviors with restricted interests. BTBR …