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Molecular Pathology of Laminopathies

Annual review of pathology, 2022-01, Vol.17 (1), p.159-180

2022

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Prelamin A and ZMPSTE24 in premature and physiological aging

Nucleus (Austin, Tex.), 2023-12, Vol.14 (1), p.2270345-2270345

2023

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Hepatocytes Deficient in Nuclear Envelope Protein Lamina-associated Polypeptide 1 are an Ideal Mammalian System to Study Intranuclear Lipid Droplets

Journal of lipid research, 2022-10, Vol.63 (10), p.100277-100277, Article 100277

2022

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Cofilin-1 phosphorylation catalyzed by ERK1/2 alters cardiac actin dynamics in dilated cardiomyopathy caused by lamin A/C gene mutation

Human molecular genetics, 2018-09, Vol.27 (17), p.3060-3078

2018

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Dynamics and molecular interactions of linker of nucleoskeleton and cytoskeleton (LINC) complex proteins

Journal of cell science, 2009-11, Vol.122 (22), p.4099-4108

2009

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Dual Specificity Phosphatase 4 Mediates Cardiomyopathy Caused by Lamin A/C (LMNA) Gene Mutation

The Journal of biological chemistry, 2012-11, Vol.287 (48), p.40513-40524

2012

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Defective lamin A-Rb signaling in Hutchinson-Gilford Progeria Syndrome and reversal by farnesyltransferase inhibition

PloS one, 2010-06, Vol.5 (6), p.e11132-e11132

2010

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Lamin A/C Depletion Enhances DNA Damage-Induced Stalled Replication Fork Arrest

Molecular and Cellular Biology, 2013-03, Vol.33 (6), p.1210-1222

2013

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The non-muscle ADF/cofilin-1 controls sarcomeric actin filament integrity and force production in striated muscle laminopathies

Cell reports (Cambridge), 2021-08, Vol.36 (8), p.109601-109601, Article 109601

2021

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LMNA cardiomyopathy: cell biology and genetics meet clinical medicine

Disease models & mechanisms, 2011-09, Vol.4 (5), p.562-568

2011

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Activation of MAPK in hearts of EMD null mice: similarities between mouse models of X-linked and autosomal dominant Emery–Dreifuss muscular dystrophy

Human molecular genetics, 2007-08, Vol.16 (15), p.1884-1895

2007

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Emery-Dreifuss muscular dystrophy: focal point nuclear envelope

Current opinion in neurology, 2019-10, Vol.32 (5), p.728-734

2019

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Diseases of the nuclear envelope

Cold Spring Harbor perspectives in biology, 2010-02, Vol.2 (2), p.a000760-a000760

2010

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The Ig-like Structure of the C-Terminal Domain of Lamin A/C, Mutated in Muscular Dystrophies, Cardiomyopathy, and Partial Lipodystrophy

Structure (London), 2002-06, Vol.10 (6), p.811-823

2002

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Dependence of Diffusional Mobility of Integral Inner Nuclear Membrane Proteins on A-Type Lamins

Biochemistry (Easton), 2006-02, Vol.45 (5), p.1374-1382

2006

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The Carboxyl-Terminal Region Common to Lamins A and C Contains a DNA Binding Domain

Biochemistry (Easton), 2003-05, Vol.42 (17), p.4819-4828

2003

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Abnormal p38α mitogen-activated protein kinase signaling in dilated cardiomyopathy caused by lamin A/C gene mutation

Human molecular genetics, 2012-10, Vol.21 (19), p.4325-4333

2012

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mTOR Inhibition Prolongs Survival and Has Beneficial Effects on Heart Function After Onset of Lamin A/C Gene Mutation Cardiomyopathy in Mice

Circulation. Heart failure, 2024-04, Vol.17 (4), p.e011110

2024

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Abolishing the prelamin A ZMPSTE24 cleavage site leads to progeroid phenotypes with near-normal longevity in mice

Proceedings of the National Academy of Sciences - PNAS, 2022-03, Vol.119 (9), p.1

2022

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Linker of nucleoskeleton and cytoskeleton (LINC) complex-mediated actin-dependent nuclear positioning orients centrosomes in migrating myoblasts

Nucleus (Austin, Tex.), 2015-01, Vol.6 (1), p.77-88

2015

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Inhibition of extracellular signal-regulated kinase signaling to prevent cardiomyopathy caused by mutation in the gene encoding A-type lamins

Human molecular genetics, 2009-01, Vol.18 (2), p.241-247

2009

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Depletion of extracellular signal-regulated kinase 1 in mice with cardiomyopathy caused by lamin A/C gene mutation partially prevents pathology before isoenzyme activation

Human molecular genetics, 2014-01, Vol.23 (1), p.1-11

2014

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Blocking farnesylation of the prelamin A variant in Hutchinson-Gilford progeria syndrome alters the distribution of A-type lamins

Nucleus (Austin, Tex.), 2012-09, Vol.3 (5), p.452-462

2012

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How do mutations in lamins A and C cause disease?

The Journal of clinical investigation, 2004-02, Vol.113 (3), p.349-351

2004

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Nuclear lamin A inhibits adipocyte differentiation: implications for Dunnigan-type familial partial lipodystrophy

Human molecular genetics, 2006-02, Vol.15 (4), p.653-663

2006

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Molecular Pathology of Laminopathies

Prelamin A and ZMPSTE24 in premature and physiological aging

Hepatocytes Deficient in Nuclear Envelope Protein Lamina-associated Polypeptide 1 are an Ideal Mammalian System to Study Intranuclear Lipid Droplets

Cofilin-1 phosphorylation catalyzed by ERK1/2 alters cardiac actin dynamics in dilated cardiomyopathy caused by lamin A/C gene mutation

Dynamics and molecular interactions of linker of nucleoskeleton and cytoskeleton (LINC) complex proteins

Dual Specificity Phosphatase 4 Mediates Cardiomyopathy Caused by Lamin A/C (LMNA) Gene Mutation

Defective lamin A-Rb signaling in Hutchinson-Gilford Progeria Syndrome and reversal by farnesyltransferase inhibition

Lamin A/C Depletion Enhances DNA Damage-Induced Stalled Replication Fork Arrest

The non-muscle ADF/cofilin-1 controls sarcomeric actin filament integrity and force production in striated muscle laminopathies

LMNA cardiomyopathy: cell biology and genetics meet clinical medicine

Activation of MAPK in hearts of EMD null mice: similarities between mouse models of X-linked and autosomal dominant Emery–Dreifuss muscular dystrophy

Emery-Dreifuss muscular dystrophy: focal point nuclear envelope

Diseases of the nuclear envelope

The Ig-like Structure of the C-Terminal Domain of Lamin A/C, Mutated in Muscular Dystrophies, Cardiomyopathy, and Partial Lipodystrophy

Dependence of Diffusional Mobility of Integral Inner Nuclear Membrane Proteins on A-Type Lamins

The Carboxyl-Terminal Region Common to Lamins A and C Contains a DNA Binding Domain

Abnormal p38α mitogen-activated protein kinase signaling in dilated cardiomyopathy caused by lamin A/C gene mutation

mTOR Inhibition Prolongs Survival and Has Beneficial Effects on Heart Function After Onset of Lamin A/C Gene Mutation Cardiomyopathy in Mice

Abolishing the prelamin A ZMPSTE24 cleavage site leads to progeroid phenotypes with near-normal longevity in mice

Linker of nucleoskeleton and cytoskeleton (LINC) complex-mediated actin-dependent nuclear positioning orients centrosomes in migrating myoblasts

Inhibition of extracellular signal-regulated kinase signaling to prevent cardiomyopathy caused by mutation in the gene encoding A-type lamins

Depletion of extracellular signal-regulated kinase 1 in mice with cardiomyopathy caused by lamin A/C gene mutation partially prevents pathology before isoenzyme activation

Blocking farnesylation of the prelamin A variant in Hutchinson-Gilford progeria syndrome alters the distribution of A-type lamins

How do mutations in lamins A and C cause disease?

Nuclear lamin A inhibits adipocyte differentiation: implications for Dunnigan-type familial partial lipodystrophy

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