Diversification of the muscle proteome through alternative splicing

K Nakka, C Ghigna, D Gabellini, FJ Dilworth - Skeletal muscle, 2018 - Springer
Background Skeletal muscles express a highly specialized proteome that allows the
metabolism of energy sources to mediate myofiber contraction. This muscle-specific …

The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies

V Gupta, G Kawahara, SR Gundry… - Human Molecular …, 2011 - academic.oup.com
In a forward genetic approach to identify novel genes for congenital muscle diseases, a
zebrafish mutant, designated patchytail, was identified that exhibits degenerating muscle …

δ-Sarcoglycan-deficient muscular dystrophy: from discovery to therapeutic approaches

AM Blain, VW Straub - Skeletal muscle, 2011 - Springer
Mutations in the δ-sarcoglycan gene cause limb-girdle muscular dystrophy 2F (LGMD2F), an
autosomal recessive disease that causes progressive weakness and wasting of the proximal …

Muscle-specific overexpression of IGF-I improves EC coupling in skeletal muscle fibers from dystrophic mdx mice

JD Schertzer, C Poel, T Shavlakadze… - … of Physiology-Cell …, 2008 - journals.physiology.org
Duchenne muscular dystrophy (DMD) is a lethal X-linked disease caused by the absence of
functional dystrophin. Abnormal excitation-contraction (EC) coupling has been reported in …

Dystrophic skeletal muscle fibers display alterations at the level of calcium microdomains

M DiFranco, CE Woods, J Capote… - Proceedings of the …, 2008 - National Acad Sciences
The spatiotemporal properties of the Ca2+-release process in skeletal muscle fibers from
normal and mdx fibers were determined using the confocal-spot detection technique. The …

[HTML][HTML] Description of a utrophin associated protein complex in lipid raft domains of human artery smooth muscle cells

C Palma-Flores, I Ramírez-Sánchez… - … et Biophysica Acta (BBA …, 2014 - Elsevier
The dystrophin-associated protein complex (DAPC) is a multimeric complex that links the
extracellular matrix to the actin cytoskeleton, and in some cases dystrophin can be …

Altered calcium pump and secondary deficiency of γ-sarcoglycan and microspan in sarcoplasmic reticulum membranes isolated from δ-sarcoglycan knockout mice

A Solares-Pérez, R Álvarez, RH Crosbie… - Cell Calcium, 2010 - Elsevier
Sarcoglycans (SGs) and sarcospan (SSPN) are transmembrane proteins of the dystrophin-
glycoprotein complex. Mutations in the genes encoding SGs cause many inherited forms of …

Nanospan, an alternatively spliced isoform of sarcospan, localizes to the sarcoplasmic reticulum in skeletal muscle and is absent in limb girdle muscular dystrophy 2F

AK Peter, G Miller, J Capote, M DiFranco… - Skeletal Muscle, 2017 - Springer
Background Sarcospan (SSPN) is a transmembrane protein that interacts with the
sarcoglycans (SGs) to form a tight subcomplex within the dystrophin-glycoprotein complex …

Intracellular Ca2+ transients in delta-sarcoglycan knockout mouse skeletal muscle

A Solares-Pérez, JA Sánchez… - … et Biophysica Acta (BBA …, 2010 - Elsevier
BACKGROUND: δ-Sarcoglycan (δ-SG) knockout (KO) mice develop skeletal muscle
histopathological alterations similar to those in humans with limb muscular dystrophy …

Dystrophin-compromised sarcoglycan-δ-knockout diaphragm requires full wild-type embryonic stem cell reconstitution for correction

JM Vitale, JS Schneider, AJ Beck, Q Zhao… - Journal of cell …, 2012 - journals.biologists.com
Limb-girdle muscular dystrophy-2F (LGMD-2F) is an incurable degenerative muscle
disorder caused by a mutation in the sarcoglycan-δ (SGδ)-encoding gene (SGCD in …