Molecular pathology of laminopathies

JY Shin, HJ Worman - Annual Review of Pathology …, 2022 - annualreviews.org
The nuclear envelope is composed of the nuclear membranes, nuclear lamina, and nuclear
pore complexes. Laminopathies are diseases caused by mutations in genes encoding …

Muscular dystrophies

E Mercuri, F Muntoni - The Lancet, 2013 - thelancet.com
Muscular dystrophies are a heterogeneous group of inherited disorders that share similar
clinical features and dystrophic changes on muscle biopsy. An improved understanding of …

A promiscuous biotin ligase fusion protein identifies proximal and interacting proteins in mammalian cells

KJ Roux, DI Kim, M Raida, B Burke - Journal of cell biology, 2012 - rupress.org
We have developed a new technique for proximity-dependent labeling of proteins in
eukaryotic cells. Named BioID for proximity-dependent biotin identification, this approach is …

The muscular dystrophies

AEH Emery - The Lancet, 2002 - thelancet.com
The muscular dystrophies are inherited myogenic disorders characterised by progressive
muscle wasting and weakness of variable distribution and severity. They can be subdivided …

Muscular dystrophies

E Mercuri, CG Bönnemann, F Muntoni - The Lancet, 2019 - thelancet.com
Muscular dystrophies are primary diseases of muscle due to mutations in more than 40
genes, which result in dystrophic changes on muscle biopsy. Now that most of the genes …

Emery‐Dreifuss muscular dystrophy

SA Heller, R Shih, R Kalra, PB Kang - Muscle & nerve, 2020 - Wiley Online Library
Emery‐Dreifuss muscular dystrophy (EDMD) is a rare muscular dystrophy, but is particularly
important to diagnose due to frequent life‐threatening cardiac complications. EDMD …

“Laminopathies”: a wide spectrum of human diseases

HJ Worman, G Bonne - Experimental cell research, 2007 - Elsevier
Mutations in genes encoding the intermediate filament nuclear lamins and associated
proteins cause a wide spectrum of diseases sometimes called “laminopathies.” Diseases …

Nuclear positioning in muscle development and disease

ES Folker, MK Baylies - Frontiers in physiology, 2013 - frontiersin.org
Muscle disease as a group is characterized by muscle weakness, muscle loss, and impaired
muscle function. Although the phenotype is the same, the underlying cellular pathologies …

Nesprin-1 and-2 are involved in the pathogenesis of Emery–Dreifuss muscular dystrophy and are critical for nuclear envelope integrity

Q Zhang, C Bethmann, NF Worth… - Human molecular …, 2007 - academic.oup.com
Emery–Dreifuss muscular dystrophy (EDMD) is a heterogeneous late-onset disease
involving skeletal muscle wasting and heart defects caused, in a minority of cases, by …

Nuclear lamins: building blocks of nuclear architecture

RD Goldman, Y Gruenbaum, RD Moir… - Genes & …, 2002 - genesdev.cshlp.org
Nuclear lamins were initially identified as the major components of the nuclear lamina, a
proteinaceous layer found at the interface between chromatin and the inner nuclear …