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; …

Spectrin and ankyrin-based pathways: metazoan inventions for integrating cells into tissues

V Bennett, AJ Baines - Physiological reviews, 2001 - journals.physiology.org
The spectrin-based membrane skeleton of the humble mammalian erythrocyte has provided
biologists with a set of interacting proteins with diverse roles in organization and survival of …

PDZ domains and the organization of supramolecular complexes

M Sheng, C Sala - Annual review of neuroscience, 2001 - annualreviews.org
▪ Abstract PDZ domains are modular protein interaction domains that bind in a sequence-
specific fashion to short C-terminal peptides or internal peptides that fold in a β-finger. The …

Mechanism and role of PDZ domains in signaling complex assembly

BZ Harris, WA Lim - Journal of cell science, 2001 - journals.biologists.com
PDZ domains are protein-protein recognition modules that play a central role in organizing
diverse cell signaling assemblies. These domains specifically recognize short C-terminal …

PDZ domains: structural modules for protein complex assembly

AY Hung, M Sheng - Journal of Biological Chemistry, 2002 - ASBMB
PDZ domains1 are modular protein interaction domains that play a role in protein targeting
and protein complex assembly. Once termed Discs-large homology regions (DHRs) or …

AnkyrinG Is Required for Clustering of Voltage-gated Na Channels at Axon Initial Segments and for Normal Action Potential Firing

D Zhou, S Lambert, PL Malen, S Carpenter… - The Journal of cell …, 1998 - rupress.org
Voltage-gated sodium channels (NaCh) are colocalized with isoforms of the membrane-
skeletal protein ankyrinG at axon initial segments, nodes of Ranvier, and postsynaptic folds …

Profiling of engineering hotspots identifies an allosteric CRISPR-Cas9 switch

BL Oakes, DC Nadler, A Flamholz, C Fellmann… - Nature …, 2016 - nature.com
The clustered, regularly interspaced, short palindromic repeats (CRISPR)-associated protein
Cas9 from Streptococcus pyogenes is an RNA-guided DNA endonuclease with widespread …

PSD-95 Assembles a Ternary Complex with theN-Methyl-D-aspartic Acid Receptor and a Bivalent Neuronal NO Synthase PDZ Domain

KS Christopherson, BJ Hillier, WA Lim… - Journal of Biological …, 1999 - ASBMB
Nitric oxide (NO) biosynthesis in cerebellum is preferentially activated by calcium influx
throughN-methyl-d-aspartate (NMDA)-type glutamate receptors, suggesting that there is a …

Unexpected modes of PDZ domain scaffolding revealed by structure of nNOS-syntrophin complex

BJ Hillier, KS Christopherson, KE Prehoda, DS Bredt… - Science, 1999 - science.org
The PDZ protein interaction domain of neuronal nitric oxide synthase (nNOS) can
heterodimerize with the PDZ domains of postsynaptic density protein 95 and syntrophin …

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 …