Failure of neuronal homeostasis results in common neuropsychiatric phenotypes

MB Ramocki, HY Zoghbi - Nature, 2008 - nature.com
Failure of normal brain development leads to mental retardation or autism in about 3% of
children. Many genes integral to pathways by which synaptic modification and the …

Neural mechanisms in Williams syndrome: a unique window to genetic influences on cognition and behaviour

A Meyer-Lindenberg, CB Mervis… - Nature Reviews …, 2006 - nature.com
Williams syndrome, a rare disorder caused by hemizygous microdeletion of about 28 genes
on chromosome 7q11. 23, has long intrigued neuroscientists with its unique combination of …

[PDF][PDF] Multiple recurrent de novo CNVs, including duplications of the 7q11. 23 Williams syndrome region, are strongly associated with autism

SJ Sanders, AG Ercan-Sencicek, V Hus, R Luo… - Neuron, 2011 - cell.com
We have undertaken a genome-wide analysis of rare copy-number variation (CNV) in 1124
autism spectrum disorder (ASD) families, each comprised of a single proband, unaffected …

Visualization of microtubule growth in cultured neurons via the use of EB3-GFP (end-binding protein 3-green fluorescent protein)

T Stepanova, J Slemmer, CC Hoogenraad… - Journal of …, 2003 - Soc Neuroscience
Several microtubule binding proteins, including CLIP-170 (cytoplasmic linker protein-170),
CLIP-115, and EB1 (end-binding protein 1), have been shown to associate specifically with …

DISC1 and PDE4B are interacting genetic factors in schizophrenia that regulate cAMP signaling

JK Millar, BS Pickard, S Mackie, R James, S Christie… - Science, 2005 - science.org
The disrupted in schizophrenia 1 (DISC1) gene is a candidate susceptibility factor for
schizophrenia, but its mechanistic role in the disorder is unknown. Here we report that the …

LIM kinases: function, regulation and association with human disease

RW Scott, MF Olson - Journal of molecular medicine, 2007 - Springer
The LIM kinase family consists of just two members: LIM kinase 1 (LIMK1) and LIM kinase 2
(LIMK2). With uniquely organised signalling domains, LIM kinases are regulated by several …

Williams syndrome

CA Morris, CB Mervis - Cassidy and Allanson's Management of …, 2021 - Wiley Online Library
Williams syndrome has been variably termed Williams–Beuren syndrome, idiopathic
hypercalcemia, and supravalvar aortic stenosis syndrome. It is estimated to occur in …

Microtubule plus-end-tracking proteins: mechanisms and functions

A Akhmanova, CC Hoogenraad - Current opinion in cell biology, 2005 - Elsevier
Microtubule plus-end-tracking proteins (+ TIPs) are a diverse group of molecules that display
dynamic accumulation at the distal ends of growing microtubules. Specific binding to the …

[PDF][PDF] Neural basis of genetically determined visuospatial construction deficit in Williams syndrome

A Meyer-Lindenberg, P Kohn, CB Mervis… - Neuron, 2004 - cell.com
A unique opportunity to understand genetic determinants of cognition is offered by Williams
syndrome (WS), a well-characterized hemideletion on chromosome 7q11. 23 that causes …

Multisystem study of 20 older adults with Williams syndrome

EM Cherniske, TO Carpenter, C Klaiman… - American journal of …, 2004 - Wiley Online Library
To address the natural history of Williams syndrome (WS), we performed multisystem
assessments on 20 adults with WS over 30 years of age and documented a high frequency …