Mitochondrial diseases

GS Gorman, PF Chinnery, S DiMauro… - Nature reviews Disease …, 2016 - nature.com
Mitochondrial diseases are a group of genetic disorders that are characterized by defects in
oxidative phosphorylation and caused by mutations in genes in the nuclear DNA (nDNA) …

Molecular and cellular basis of genetically inherited skeletal muscle disorders

JJ Dowling, CC Weihl, MJ Spencer - Nature Reviews Molecular Cell …, 2021 - nature.com
Neuromuscular disorders comprise a diverse group of human inborn diseases that arise
from defects in the structure and/or function of the muscle tissue—encompassing the muscle …

Gene editing restores dystrophin expression in a canine model of Duchenne muscular dystrophy

L Amoasii, JCW Hildyard, H Li, E Sanchez-Ortiz… - Science, 2018 - science.org
Mutations in the gene encoding dystrophin, a protein that maintains muscle integrity and
function, cause Duchenne muscular dystrophy (DMD). The deltaE50-MD dog model of DMD …

The extracellular matrix protein agrin promotes heart regeneration in mice

E Bassat, YE Mutlak, A Genzelinakh, IY Shadrin… - Nature, 2017 - nature.com
The adult mammalian heart is non-regenerative owing to the post-mitotic nature of
cardiomyocytes. The neonatal mouse heart can regenerate, but only during the first week of …

In vivo gene editing in dystrophic mouse muscle and muscle stem cells

M Tabebordbar, K Zhu, JKW Cheng, WL Chew… - Science, 2016 - science.org
Frame-disrupting mutations in the DMD gene, encoding dystrophin, compromise myofiber
integrity and drive muscle deterioration in Duchenne muscular dystrophy (DMD). Removing …

Postnatal genome editing partially restores dystrophin expression in a mouse model of muscular dystrophy

C Long, L Amoasii, AA Mireault, JR McAnally, H Li… - Science, 2016 - science.org
CRISPR/Cas9-mediated genome editing holds clinical potential for treating genetic
diseases, such as Duchenne muscular dystrophy (DMD), which is caused by mutations in …

Astrocytic laminin-211 drives disseminated breast tumor cell dormancy in brain

J Dai, PJ Cimino, KH Gouin III, CA Grzelak, A Barrett… - Nature cancer, 2022 - nature.com
Although dormancy is thought to play a key role in the metastasis of breast tumor cells to the
brain, our knowledge of the molecular mechanisms regulating disseminated tumor cell …

CRISPR-Cas9 corrects Duchenne muscular dystrophy exon 44 deletion mutations in mice and human cells

YL Min, H Li, C Rodriguez-Caycedo, AA Mireault… - Science …, 2019 - science.org
Mutations in the dystrophin gene cause Duchenne muscular dystrophy (DMD), which is
characterized by lethal degeneration of cardiac and skeletal muscles. Mutations that delete …

The jam session between muscle stem cells and the extracellular matrix in the tissue microenvironment

M Loreti, A Sacco - NPJ Regenerative medicine, 2022 - nature.com
Skeletal muscle requires a highly orchestrated coordination between multiple cell types and
their microenvironment to exert its function and to maintain its homeostasis and regenerative …

Single-cut genome editing restores dystrophin expression in a new mouse model of muscular dystrophy

L Amoasii, C Long, H Li, AA Mireault… - Science translational …, 2017 - science.org
Duchenne muscular dystrophy (DMD) is a severe, progressive muscle disease caused by
mutations in the dystrophin gene. The majority of DMD mutations are deletions that …