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 …

[HTML][HTML] Nuclear positioning

GG Gundersen, HJ Worman - Cell, 2013 - cell.com
The nucleus is the largest organelle and is commonly depicted in the center of the cell. Yet
during cell division, migration, and differentiation, it frequently moves to an asymmetric …

Using whole-exome sequencing to identify inherited causes of autism

WY Timothy, MH Chahrour, ME Coulter, S Jiralerspong… - Neuron, 2013 - cell.com
Despite significant heritability of autism spectrum disorders (ASDs), their extreme genetic
heterogeneity has proven challenging for gene discovery. Studies of primarily simplex …

Nuclear mechanics and mechanotransduction in health and disease

P Isermann, J Lammerding - Current Biology, 2013 - cell.com
The nucleus is the defining feature of eukaryotic cells and often represents the largest
organelle. Over the past decade, it has become apparent that the nucleus is tightly …

When lamins go bad: nuclear structure and disease

KH Schreiber, BK Kennedy - Cell, 2013 - cell.com
Mutations in nuclear lamins or other proteins of the nuclear envelope are the root cause of a
group of phenotypically diverse genetic disorders known as laminopathies, which have …

Accessorizing and anchoring the LINC complex for multifunctionality

W Chang, HJ Worman, GG Gundersen - Journal of Cell Biology, 2015 - rupress.org
The linker of nucleoskeleton and cytoskeleton (LINC) complex, composed of outer and inner
nuclear membrane Klarsicht, ANC-1, and Syne homology (KASH) and Sad1 and UNC-84 …

Interactions between nuclei and the cytoskeleton are mediated by SUN-KASH nuclear-envelope bridges

DA Starr, HN Fridolfsson - Annual review of cell and …, 2010 - annualreviews.org
The nuclear envelope links the cytoskeleton to structural components of the nucleus. It
functions to coordinate nuclear migration and anchorage, organize chromatin, and aid …

[图书][B] Greenfield's Neuropathology-Two Volume Set

S Love, A Perry, J Ironside, H Budka - 2018 - books.google.com
Greenfield's Neuropathology, the world's leading neuropathology reference, provides a
comprehensive account of the pathological findings in neurological disease, their biological …

Plakophilin 2 gene therapy prevents and rescues arrhythmogenic right ventricular cardiomyopathy in a mouse model harboring patient genetics

WH Bradford, J Zhang, EJ Gutierrez-Lara… - Nature Cardiovascular …, 2023 - nature.com
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a fatal genetic heart disease
characterized by cardiac arrhythmias, in which fibrofatty deposition leads to heart failure …

Nesprins: from the nuclear envelope and beyond

D Rajgor, CM Shanahan - Expert reviews in molecular medicine, 2013 - cambridge.org
Nuclear envelope spectrin-repeat proteins (Nesprins), are a novel family of nuclear and
cytoskeletal proteins with rapidly expanding roles as intracellular scaffolds and linkers …