Function and genetics of dystrophin and dystrophin-related proteins in muscle

DJ Blake, A Weir, SE Newey… - Physiological …, 2002 - journals.physiology.org
The X-linked muscle-wasting disease Duchenne muscular dystrophy is caused by mutations
in the gene encoding dystrophin. There is currently no effective treatment for the disease; …

The molecular basis of water transport in the brain

M Amiry-Moghaddam, OP Ottersen - Nature Reviews Neuroscience, 2003 - nature.com
Brain function is inextricably coupled to water homeostasis. The fact that most of the volume
between neurons is occupied by glial cells, leaving only a narrow extracellular space …

Genome-wide association study of multisite chronic pain in UK Biobank

KJA Johnston, MJ Adams, BI Nicholl, J Ward… - PLoS …, 2019 - journals.plos.org
Chronic pain is highly prevalent worldwide and represents a significant socioeconomic and
public health burden. Several aspects of chronic pain, for example back pain and a severity …

Brain endothelial cells and the glio-vascular complex

H Wolburg, S Noell, A Mack, K Wolburg-Buchholz… - Cell and tissue …, 2009 - Springer
We present and discuss the role of endothelial and astroglial cells in managing the blood-
brain barrier (BBB) and aspects of pathological alterations in the BBB. The impact of …

Dystrophin Dp71 and the neuropathophysiology of Duchenne muscular dystrophy

M Naidoo, K Anthony - Molecular Neurobiology, 2020 - Springer
Duchenne muscular dystrophy (DMD) is caused by frameshift mutations in the DMD gene
that prevent the body-wide translation of its protein product, dystrophin. Besides a severe …

Genetic variation in the 6p22. 3 gene DTNBP1, the human ortholog of the mouse dysbindin gene, is associated with schizophrenia

RE Straub, Y Jiang, CJ MacLean, Y Ma… - The American Journal of …, 2002 - cell.com
Prior evidence has supported the existence of multiple susceptibility genes for
schizophrenia. Multipoint linkage analysis of the 270 Irish high-density pedigrees that we …

Syntrophin-dependent expression and localization of Aquaporin-4 water channel protein

JD Neely, M Amiry-Moghaddam… - Proceedings of the …, 2001 - National Acad Sciences
The Aquaporin-4 (AQP4) water channel contributes to brain water homeostasis in
perivascular astrocyte endfeet where it is concentrated. We postulated that AQP4 is tethered …

The extracellular matrix protein laminin α2 regulates the maturation and function of the blood–brain barrier

MJ Menezes, FK McClenahan, CV Leiton… - Journal of …, 2014 - Soc Neuroscience
Laminins are major constituents of the gliovascular basal lamina of the blood–brain barrier
(BBB); however, the role of laminins in BBB development remains unclear. Here we report …

The dystrophin–glycoprotein complex, cellular signaling, and the regulation of cell survival in the muscular dystrophies

TA Rando - Muscle & nerve, 2001 - Wiley Online Library
Mutations of different components of the dystrophin–glycoprotein complex (DGC) cause
muscular dystrophies that vary in terms of severity, age of onset, and selective involvement …

Dysbindin-1 is reduced in intrinsic, glutamatergic terminals of the hippocampal formation in schizophrenia

K Talbot, WL Eidem, CL Tinsley… - The Journal of …, 2004 - Am Soc Clin Investig
Eleven studies now report significant associations between schizophrenia and certain
haplotypes of single-nucleotide polymorphisms in the gene encoding dysbindin-1 at 6p22 …