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; …

Laminin functions in tissue morphogenesis

JH Miner, PD Yurchenco - Annu. Rev. Cell Dev. Biol., 2004 - annualreviews.org
▪ Abstract Significant advances have been made in the application of genetics to probe the
functions of basement membrane laminins. These studies have shown that different laminin …

Extracellular matrix: Brick and mortar in the skeletal muscle stem cell niche

SC Schüler, Y Liu, S Dumontier… - Frontiers in Cell and …, 2022 - frontiersin.org
The extracellular matrix (ECM) is an interconnected macromolecular scaffold occupying the
space between cells. Amongst other functions, the ECM provides structural support to …

The dystrophin glycoprotein complex: signaling strength and integrity for the sarcolemma

KA Lapidos, R Kakkar, EM McNally - Circulation research, 2004 - Am Heart Assoc
The dystrophin glycoprotein complex (DGC) is a specialization of cardiac and skeletal
muscle membrane. This large multicomponent complex has both mechanical stabilizing and …

Post-translational disruption of dystroglycan–ligand interactions in congenital muscular dystrophies

DE Michele, R Barresi, M Kanagawa, F Saito, RD Cohn… - Nature, 2002 - nature.com
Muscle–eye–brain disease (MEB) and Fukuyama congenital muscular dystrophy (FCMD)
are congenital muscular dystrophies with associated, similar brain malformations,. The …

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin α2 deficiency and abnormal glycosylation …

M Brockington, DJ Blake, P Prandini, SC Brown… - The American Journal of …, 2001 - cell.com
The congenital muscular dystrophies (CMD) are a heterogeneous group of autosomal
recessive disorders presenting in infancy with muscle weakness, contractures, and …

Matrix metalloproteinases in brain development and remodeling: synaptic functions and targets

IM Ethell, DW Ethell - Journal of neuroscience research, 2007 - Wiley Online Library
Matrix metalloproteinases (MMPs) play critical roles in egg fertilization, embryonic
development, wound repair, cancer, and inflammatory and neurologic diseases. This …

The glomerular basement membrane as a barrier to albumin

JH Suh, JH Miner - Nature Reviews Nephrology, 2013 - nature.com
The glomerular basement membrane (GBM) is the central, non-cellular layer of the
glomerular filtration barrier that is situated between the two cellular components …

A stoichiometric complex of neurexins and dystroglycan in brain

S Sugita, F Saito, J Tang, J Satz, K Campbell… - The Journal of cell …, 2001 - rupress.org
In nonneuronal cells, the cell surface protein dystroglycan links the intracellular cytoskeleton
(via dystrophin or utrophin) to the extracellular matrix (via laminin, agrin, or perlecan) …

Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy

SA Moore, F Saito, J Chen, DE Michele, MD Henry… - Nature, 2002 - nature.com
Fukuyama congenital muscular dystrophy (FCMD), muscle–eye–brain disease (MEB), and
Walker–Warburg syndrome are congenital muscular dystrophies (CMDs) with associated …