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 …
pore complexes. Laminopathies are diseases caused by mutations in genes encoding …
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 …
group of phenotypically diverse genetic disorders known as laminopathies, which have …
The laminopathies and the insights they provide into the structural and functional organization of the nucleus
X Wong, CL Stewart - Annual Review of Genomics and Human …, 2020 - annualreviews.org
In recent years, our perspective on the cell nucleus has evolved from the view that it is a
passive but permeable storage organelle housing the cell's genetic material to an …
passive but permeable storage organelle housing the cell's genetic material to an …
Nuclear envelope, nuclear lamina, and inherited disease
HJ Worman, JC Courvalin - International review of cytology, 2005 - Elsevier
The nuclear envelope is composed of the nuclear membranes, nuclear lamina, and nuclear
pore complexes. In recent years, mutations in nuclear‐envelope proteins have been shown …
pore complexes. In recent years, mutations in nuclear‐envelope proteins have been shown …
The laminopathies: nuclear structure meets disease
L Mounkes, S Kozlov, B Burke, CL Stewart - Current opinion in genetics & …, 2003 - Elsevier
Most inherited diseases are associated with mutations in a specific gene. Sometimes,
mutations in two or more different genes result in diseases with a similar phenotype. Rarely …
mutations in two or more different genes result in diseases with a similar phenotype. Rarely …
Laminopathies
JLV Broers, CJ Hutchison… - The Journal of …, 2004 - Wiley Online Library
Nuclear lamins form a fibrous nucleoskeletal network of intermediate‐sized filaments that
underlies the inner nuclear membrane. It associates with this membrane through …
underlies the inner nuclear membrane. It associates with this membrane through …
Nuclear lamins and laminopathies
HJ Worman - The Journal of pathology, 2012 - Wiley Online Library
Nuclear lamins are intermediate filament proteins that polymerize to form the nuclear lamina
on the inner aspect of the inner nuclear membrane. Long known to be essential for …
on the inner aspect of the inner nuclear membrane. Long known to be essential for …
Life at the edge: the nuclear envelope and human disease
B Burke, CL Stewart - Nature reviews Molecular cell biology, 2002 - nature.com
A group of human diseases, known as' laminopathies', are associated with defects in
proteins of the nuclear envelope. Most laminopathy mutations have been mapped to the A …
proteins of the nuclear envelope. Most laminopathy mutations have been mapped to the A …
The laminopathies: the functional architecture of the nucleus and its contribution to disease
B Burke, CL Stewart - Annu. Rev. Genomics Hum. Genet., 2006 - annualreviews.org
Most inherited diseases are associated with mutations in a specific gene. Often, mutations in
two or more different genes result in diseases with a similar phenotype. Rarely do different …
two or more different genes result in diseases with a similar phenotype. Rarely do different …
Laminopathies and the long strange trip from basic cell biology to therapy
HJ Worman, LG Fong, A Muchir… - The Journal of clinical …, 2009 - Am Soc Clin Investig
The main function of the nuclear lamina, an intermediate filament meshwork lying primarily
beneath the inner nuclear membrane, is to provide structural scaffolding for the cell nucleus …
beneath the inner nuclear membrane, is to provide structural scaffolding for the cell nucleus …