Inner nuclear membrane proteins: impact on human disease

Exome Sequencing and Functional Analysis Identifies BANF1 Mutation as the Cause of a Hereditary Progeroid Syndrome

(2011) Xose S. Puente et al.   AMERICAN JOURNAL OF HUMAN GENETICS

LMNA cardiomyopathy: cell biology and genetics meet clinical medicine

(2011) J. T. Lu et al.   Disease Models & Mechanisms

Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation

(2011) Rabah Ben Yaou et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

High prevalence of laminopathies among patients with metabolic syndrome

(2011) Anne Dutour et al.   HUMAN MOLECULAR GENETICS

A Homozygous Mutation of Prelamin-A Preventing Its Farnesylation and Maturation Leads to a Severe Lipodystrophic Phenotype: New Insights into the Pathogenicity of Nonfarnesylated Prelamin-A

(2011) Caroline Le Dour et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Lipodystrophies: Genetic and Acquired Body Fat Disorders

(2011) Abhimanyu Garg   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Progerin and telomere dysfunction collaborate to trigger cellular senescence in normal human fibroblasts

(2011) Kan Cao et al.   JOURNAL OF CLINICAL INVESTIGATION

Deficiencies in lamin B1 and lamin B2 cause neurodevelopmental defects and distinct nuclear shape abnormalities in neurons

(2011) Catherine Coffinier et al.   MOLECULAR BIOLOGY OF THE CELL

Recapitulation of premature ageing with iPSCs from Hutchinson–Gilford progeria syndrome

(2011) Guang-Hui Liu et al.   NATURE

Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms

(2011) Jens Schuster et al.   NEUROGENETICS

Decreased Bone Formation and Osteopenia in Lamin A/C-Deficient Mice

(2011) Wei Li et al.   PLoS One

The lamin protein family

(2011) Travis A Dittmer et al.   GENOME BIOLOGY

Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein

(2011) Peter Clayton et al.   Nucleus

TMEM43 mutations in emery-dreifuss muscular dystrophy-related myopathy

(2010) Wen-Chen Liang et al.   ANNALS OF NEUROLOGY

Structural Analysis of the Smad2−MAN1 Interaction That Regulates Transforming Growth Factor-β Signaling at the Inner Nuclear Membrane

(2010) Emilie Kondé et al.   BIOCHEMISTRY

Pharmacological inhibition of c-Jun N-terminal kinase signaling prevents cardiomyopathy caused by mutation in LMNA gene

(2010) Wei Wu et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

A Human iPSC Model of Hutchinson Gilford Progeria Reveals Vascular Smooth Muscle and Mesenchymal Stem Cell Defects

(2010) Jinqiu Zhang et al.   Cell Stem Cell

Nuclear pore biogenesis into an intact nuclear envelope

(2010) Christine M. Doucet et al.   CHROMOSOMA

Mitogen-Activated Protein Kinase Inhibitors Improve Heart Function and Prevent Fibrosis in Cardiomyopathy Caused by Mutation in Lamin A/C Gene

(2010) Wei Wu et al.   CIRCULATION

Restrictive dermopathy: a disorder of skin differentiation with abnormal integrin expression

(2010) John C. S. Dean et al.   CLINICAL GENETICS

Functional Coupling between the Extracellular Matrix and Nuclear Lamina by Wnt Signaling in Progeria

(2010) Lidia Hernandez et al.   DEVELOPMENTAL CELL

Absence of progeria-like disease phenotypes in knock-in mice expressing a non-farnesylated version of progerin

(2010) Shao H. Yang et al.   HUMAN MOLECULAR GENETICS

Role of progerin-induced telomere dysfunction in HGPS premature cellular senescence

(2010) E. K. Benson et al.   JOURNAL OF CELL SCIENCE

LBR mutation and nuclear envelope defects in a patient affected with Reynolds syndrome

(2010) C. Gaudy-Marqueste et al.   JOURNAL OF MEDICAL GENETICS

Altered Chromosomal Positioning, Compaction, and Gene Expression with a Lamin A/C Gene Mutation

(2010) Stephanie K. Mewborn et al.   PLoS One

Lamin A variants that cause striated muscle disease are defective in anchoring transmembrane actin-associated nuclear lines for nuclear movement

(2010) E. S. Folker et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A molecular mechanism underlying the neural-specific defect in torsinA mutant mice

(2010) C. E. Kim et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Abnormal development of the cerebral cortex and cerebellum in the setting of lamin B2 deficiency

(2010) C. Coffinier et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Linear Arrays of Nuclear Envelope Proteins Harness Retrograde Actin Flow for Nuclear Movement

(2010) G. W. G. Luxton et al.   SCIENCE

Nuclear Lamins

(2010) T. Dechat et al.   Cold Spring Harbor Perspectives in Biology

Lamin-binding Proteins

(2010) K. L. Wilson et al.   Cold Spring Harbor Perspectives in Biology

Overlapping syndrome with familial partial lipodystrophy, Dunnigan variety and cardiomyopathy due to amino-terminal heterozygous missense lamin A/C mutations

(2009) L Subramanyam et al.   CLINICAL GENETICS

The Nuclear Envelope as a Signaling Node in Development and Disease

(2009) William T. Dauer et al.   DEVELOPMENTAL CELL

miR-23 regulation of lamin B1 is crucial for oligodendrocyte development and myelination

(2009) S.-T. Lin et al.   Disease Models & Mechanisms

Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis

(2009) R. Attali et al.   HUMAN MOLECULAR GENETICS

Dynamic complexes of A-type lamins and emerin influence adipogenic capacity of the cell via nucleocytoplasmic distribution of  -catenin

(2009) K. Tilgner et al.   JOURNAL OF CELL SCIENCE

The R439C mutation inLMNAcauses lamin oligomerization and susceptibility to oxidative stress

(2009) Valerie L.R.M. Verstraeten et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Atypical Progeroid Syndrome due to Heterozygous MissenseLMNAMutations

(2009) Abhimanyu Garg et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The role ofLMNAin adipose: a novel mouse model of lipodystrophy based on the Dunnigan-type familial partial lipodystrophy mutation

(2009) Kari M. Wojtanik et al.   JOURNAL OF LIPID RESEARCH

Nesprin-1 mutations in human and murine cardiomyopathy

(2009) Megan J. Puckelwartz et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Telomere length in Hutchinson-Gilford Progeria Syndrome

(2009) Michelle L. Decker et al.   MECHANISMS OF AGEING AND DEVELOPMENT

Primary dystonia: molecules and mechanisms

(2009) Lauren M. Tanabe et al.   Nature Reviews Neurology

A progeria mutation reveals functions for lamin A in nuclear assembly, architecture, and chromosome organization

(2009) P. Taimen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

De novoLMNAmutations cause a new form of congenital muscular dystrophy

(2008) Susana Quijano-Roy et al.   ANNALS OF NEUROLOGY

Disturbed nuclear orientation and cellular migration in A-type lamin deficient cells

(2008) F. Houben et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

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

(2008) A. Muchir et al.   HUMAN MOLECULAR GENETICS

Effect of Lamin A/C Knockdown on Osteoblast Differentiation and Function

(2008) Rahima Akter et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Gone with the Wnt/Notch: stem cells in laminopathies, progeria, and aging

(2008) Eran Meshorer et al.   JOURNAL OF CELL BIOLOGY

Severe Mandibuloacral Dysplasia-Associated Lipodystrophy and Progeria in a Young Girl with a Novel Homozygous Arg527CysLMNAMutation

(2008) Anil K. Agarwal et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Progerin elicits disease phenotypes of progeria in mice whether or not it is farnesylated

(2008) Shao H. Yang et al.   JOURNAL OF CLINICAL INVESTIGATION

Suppression of Proliferative Defects Associated with Processing-defective Lamin A Mutants by hTERT or Inactivation of p53

(2008) Brian A. Kudlow et al.   MOLECULAR BIOLOGY OF THE CELL

Domain organization of human chromosomes revealed by mapping of nuclear lamina interactions

(2008) Lars Guelen et al.   NATURE

Transcriptional repression mediated by repositioning of genes to the nuclear lamina

(2008) K. L. Reddy et al.   NATURE

Lamin A-dependent misregulation of adult stem cells associated with accelerated ageing

(2008) Paola Scaffidi et al.   NATURE CELL BIOLOGY

Combined treatment with statins and aminobisphosphonates extends longevity in a mouse model of human premature aging

(2008) Ignacio Varela et al.   NATURE MEDICINE

Phenotype and Course of Hutchinson–Gilford Progeria Syndrome

(2008) Melissa A. Merideth et al.   NEW ENGLAND JOURNAL OF MEDICINE

A farnesyltransferase inhibitor prevents both the onset and late progression of cardiovascular disease in a progeria mouse model

(2008) B. C. Capell et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Novel LMNA Mutation in Atypical Werner Syndrome Presenting With Ischemic Disease

(2008) Dimitri Renard et al.   STROKE

Treatment with a farnesyltransferase inhibitor improves survival in mice with a Hutchinson–Gilford progeria syndrome mutation

(2007) S YANG   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS