Life at the edge: the nuclear envelope and human disease

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

1999 • 1,318 citations

Missense Mutations in the Rod Domain of the Lamin A/C Gene as Causes of Dilated Cardiomyopathy and Conduction-System Disease

1999 • 1,288 citations

Loss of a-Type Lamin Expression Compromises Nuclear Envelope Integrity Leading to Muscular Dystrophy

1999 • 1,180 citations

Transport into and out of the Nucleus

2001 • 877 citations

Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

1994 • 874 citations

Nuclear Membrane Dynamics and Reassembly in Living Cells: Targeting of an Inner Nuclear Membrane Protein in Interphase and Mitosis

1997 • 753 citations

cDNA sequencing of nuclear lamins A and C reveals primary and secondary structural homology to intermediate filament proteins.

1986 • 711 citations

Nuclear Lamins: Their Structure, Assembly, and Interactions

1998 • 708 citations

LMNA, encoding lamin A/C, is mutated in partial lipodystrophy

2000 • 688 citations

Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy

2000 • 656 citations

Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C

1993 • 608 citations

Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)

2000 • 598 citations

Functional Organization Of The Nuclear Envelope

1988 • 593 citations

Homozygous Defects in LMNA, Encoding Lamin A/C Nuclear-Envelope Proteins, Cause Autosomal Recessive Axonal Neuropathy in Human (Charcot-Marie-Tooth Disorder Type 2) and Mouse

2002 • 530 citations

Defective prelamin A processing and muscular and adipocyte alterations in Zmpste24 metalloproteinase–deficient mice

2002 • 529 citations

Immunocytochemical localization of the major polypeptides of the nuclear pore complex-lamina fraction. Interphase and mitotic distribution.

1978 • 527 citations

Mandibuloacral Dysplasia Is Caused by a Mutation in LMNA-Encoding Lamin A/C

2002 • 526 citations

Integral membrane proteins of the nuclear envelope interact with lamins and chromosomes, and binding is modulated by mitotic phosphorylation

1993 • 525 citations

Differential timing of nuclear lamin A/C expression in the various organs of the mouse embryo and the young animal: a developmental study

1989 • 520 citations

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene

2000 • 471 citations

Different Mutations in the LMNA Gene Cause Autosomal Dominant and Autosomal Recessive Emery-Dreifuss Muscular Dystrophy

2000 • 411 citations

Unusual type of benign x-linked muscular dystrophy.

1966 • 397 citations

Essential Roles forCaenorhabditis elegansLamin Gene in Nuclear Organization, Cell Cycle Progression, and Spatial Organization of Nuclear Pore Complexes

2000 • 397 citations

Nesprins: a novel family of spectrin-repeat-containing proteins that localize to the nuclear membrane in multiple tissues

2001 • 396 citations

The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein

1996 • 373 citations

Domain-specific Interactions of Human HP1-type Chromodomain Proteins and Inner Nuclear Membrane Protein LBR

1997 • 351 citations

A lamin-independent pathway for nuclear envelope assembly.

1990 • 350 citations

Teratocarcinoma stem cells and early mouse embryos contain only a single major lamin polypeptide closely resembling lamin B

1987 • 347 citations

Emerin deficiency at the nuclear membrane in patients with Emery-Dreif uss muscular dystrophy

1996 • 337 citations

NudF, a nuclear migration gene in Aspergillus nidulans, is similar to the human LIS-1 gene required for neuronal migration.

1995 • 337 citations

The ER-overload response: activation of NF-κB

1997 • 334 citations

MAN1, an Inner Nuclear Membrane Protein That Shares the LEM Domain with Lamina-associated Polypeptide 2 and Emerin

2000 • 329 citations

Lamin A/C Gene Mutation Associated With Dilated Cardiomyopathy With Variable Skeletal Muscle Involvement

2000 • 321 citations

A novel interaction between lamin A and SREBP1: implications for partial lipodystrophy and other laminopathies

2002 • 316 citations

UNC-84 localizes to the nuclear envelope and is required for nuclear migration and anchoring during C. elegans development

1999 • 297 citations

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

2002 • 272 citations

Mutational and Haplotype Analyses of Families with Familial Partial Lipodystrophy (Dunnigan Variety) Reveal Recurrent Missense Mutations in the Globular C-Terminal Domain of Lamin A/C

2000 • 268 citations

Nuclear envelope proteomics: Novel integral membrane proteins of the inner nuclear membrane

2001 • 268 citations

Syne-1, A Dystrophin- and Klarsicht-related Protein Associated with Synaptic Nuclei at the Neuromuscular Junction

2000 • 261 citations

Barrier-to-autointegration factor (BAF) bridges DNA in a discrete, higher-order nucleoprotein complex

2000 • 257 citations

Structure of the Globular Tail of Nuclear Lamin

2002 • 257 citations

Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in the lamin A/C gene

2001 • 241 citations

cDNA cloning of a germ cell specific lamin B3 from mouse spermatocytes and analysis of its function by ectopic expression in somatic cells.

1993 • 239 citations

Direct Interaction between Emerin and Lamin A

2000 • 237 citations

The lamin B receptor of the nuclear envelope inner membrane: a polytopic protein with eight potential transmembrane domains.

1990 • 236 citations

Insertional Mutation of the Drosophila Nuclear Lamin Dm0 Gene Results in Defective Nuclear Envelopes, Clustering of Nuclear Pore Complexes, and Accumulation of Annulate Lamellae

1997 • 228 citations

Nuclear envelope defects associated withLMNAmutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy

2001 • 228 citations

The nuclear envelope, muscular dystrophy and gene expression

2000 • 227 citations

Drosophila Lissencephaly-1 functions with Bic-D and dynein in oocyte determination and nuclear positioning

1999 • 220 citations

Signals and structural features involved in integral membrane protein targeting to the inner nuclear membrane.

1995 • 216 citations

Integral membrane proteins specific to the inner nuclear membrane and associated with the nuclear lamina.

1988 • 213 citations

Solution structure of the constant region of nuclear envelope protein LAP2 reveals two LEM-domain structures: one binds BAF and the other binds DNA

2001 • 210 citations

Adipose Tissue Distribution Pattern in Patients with Familial Partial Lipodystrophy (Dunnigan Variety)¹

1999 • 208 citations

Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy

2001 • 208 citations

LAP2 binds to BAFDNA complexes: requirement for the LEM domain and modulation by variable regions

2001 • 205 citations

Complex formation between lamin A and the retinoblastoma gene product: identification of the domain on lamin A required for its interaction.

1994 • 199 citations

Lamins in disease: why do ubiquitously expressed nuclear envelope proteins give rise to tissue-specific disease phenotypes?

2001 • 184 citations

The Emery-Dreifuss muscular dystrophy phenotype arises from aberrant targeting and binding of emerin at the inner nuclear membrane

1999 • 181 citations

Cloning of a cDNA for lamina-associated polypeptide 2 (LAP2) and identification of regions that specify targeting to the nuclear envelope.

1995 • 181 citations

Intracellular trafficking of emerin, the Emery-Dreifuss muscular dystrophy protein

1999 • 181 citations

A Visual Screen of a Gfp-Fusion Library Identifies a New Type of Nuclear Envelope Membrane Protein

1999 • 176 citations

mAKAP: an A-kinase anchoring protein targeted to the nuclear membrane of differentiated myocytes

1999 • 172 citations

unc-83encodes a novel component of the nuclear envelope and is essential for proper nuclear migration

2001 • 170 citations

Lamin-dependent Localization of UNC-84, A Protein Required for Nuclear Migration inCaenorhabditis elegans

2002 • 163 citations

Molecular analysis of the klarsicht gene and its role in nuclear migration within differentiating cells of the Drosophila eye

1999 • 162 citations

The alpha-helical rod domain of human lamins A and C contains a chromatin binding site.

1993 • 157 citations

Myne-1, a spectrin repeat transmembrane protein of the myocyte inner nuclear membrane, interacts with lamin A/C

2002 • 155 citations

Immunoelectron microscopic studies of the intracellular transport of the membrane glycoprotein (G) of vesicular stomatitis virus in infected Chinese hamster ovary cells.

1983 • 150 citations

Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene

2002 • 146 citations

Characterization of a second highly conserved B-type lamin present in cells previously thought to contain only a single B-type lamin

1990 • 145 citations

Interaction between Emerin and Nuclear Lamins

2001 • 141 citations

Aberrant intracellular targeting and cell cycle-dependent phosphorylation of emerin contribute to the Emery-Dreifuss muscular dystrophy phenotype

1998 • 140 citations

The Human Lamin B Receptor/Sterol Reductase Multigene Family

1998 • 134 citations

Lis1, the Drosophila homolog of a human lissencephaly disease gene, is required for germline cell division and oocyte differentiation

1999 • 131 citations

Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression

1998 • 130 citations

Amino acid sequence and molecular characterization of murine lamin B as deduced from cDNA clones.

1988 • 127 citations

Ultrastructural abnormality of sarcolemmal nuclei in Emery-Dreifuss muscular dystrophy (EDMD)

1998 • 127 citations

Cells of the cellular immune and hemopoietic system of the mouse lack lamins A/C: distinction Versus other somatic cells

1990 • 127 citations

The characterization and localization of the mouse thymopoietin/lamina-associated polypeptide 2 gene and its alternatively spliced products.

1996 • 126 citations

Review: The Dynamics of the Nuclear Lamins during the Cell Cycle— Relationship between Structure and Function

2000 • 122 citations

Structural Characterization of the LEM Motif Common to Three Human Inner Nuclear Membrane Proteins

2001 • 119 citations

cDNA Cloning and Characterization of Lamina-associated Polypeptide 1C (LAP1C), an Integral Protein of the Inner Nuclear Membrane

1995 • 117 citations

Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy

2001 • 117 citations

Cloning and sequencing of cDNA clones encoding chicken lamins A and B1 and comparison of the primary structures of vertebrate A- and B-type lamins

1989 • 115 citations

Three distinct human thymopoietins are derived from alternatively spliced mRNAs.

1994 • 113 citations

Internuclear exchange of an inner nuclear membrane protein (p55) in heterokaryons: in vivo evidence for the interaction of p55 with the nuclear lamina.

1990 • 112 citations

Nuclear changes in a case of X-linked Emery-Dreifuss muscular dystrophy

1999 • 106 citations

A second higher vertebrate B-type lamin

1989 • 102 citations

Mutations in the LMNA gene encoding lamin A/C

2000 • 98 citations

Heart to heart: from nuclearproteins to Emery-Dreifuss muscular dystrophy

1999 • 97 citations

HA95 is a protein of the chromatin and nuclear matrix regulating nuclear envelope dynamics

2000 • 93 citations

The Drosophila Lissencephaly1 (DLis1) Gene Is Required for Nuclear Migration

2000 • 92 citations

Genotype-phenotype analysis in X-linked Emery–Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype

1999 • 92 citations

Structure and Mapping of the Human Thymopoietin (TMPO) Gene and Relationship of Human TMPO β to Rat Lamin-Associated Polypeptide 2

1995 • 87 citations

LIS1: cellular function of a disease-causing gene

2001 • 85 citations

A nuclear lamin is required for cytoplasmic organization and egg polarity in Drosophila

2001 • 85 citations

Structural analysis of emerin, an inner nuclear membrane protein mutated in X‐linked Emery–Dreifuss muscular dystrophy

2001 • 66 citations

Characterization of Adiposity and Metabolism in Lmna-Deficient Mice

2002 • 62 citations

Free diffusion to and from the inner nuclear membrane of newly synthesized plasma membrane glycoproteins.

1987 • 51 citations

Cloning and Characterization of an Atypical Type IV P-type ATPase That Binds to the RING Motif of RUSH Transcription Factors

2001 • 47 citations

Immunocytochemical study of the partition and distribution of Sindbis virus glycoproteins in freeze-fractured membranes of infected baby hamster kidney cells.

1985 • 39 citations

Two distal mutations in the gene encoding emerin have profoundly different effects on emerin protein expression

2000 • 17 citations

Unusual expression of emerin in a patient with X-linked Emery–Dreifuss muscular dystrophy

2000 • 14 citations

Novel integral membrane proteins of the inner nuclear membrane

2002 • 6 citations