Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy (Q28277676)

object named as

Martine Le Merrer

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Claire L Navarro

object named as

Claire L Navarro

Annachiara De Sandre-Giovannoli

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object named as

Annachiara De Sandre-Giovannoli

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Pierre Vabres

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Smail Hadj-Rabia

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Alain Verloes

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author name string

Rafaëlle Bernard

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Irène Boccaccio

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Amandine Boyer

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David Geneviève

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Caroline Gaudy-Marqueste

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Henk Sillevis Smitt

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Laurence Faivre

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Ton Van Essen

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Elisabeth Flori

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Frits A Beemer

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Nicole Laurent

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Nicolas Lévy

Restrictive dermopathy: a newly recognized autosomal recessive skin dysplasia

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language of work or name

English

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publication date

15 October 2004

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published in

Human Molecular Genetics

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volume

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issue

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page(s)

2493-503

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cites work

1 reference

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Restrictive dermopathy, a lethal form of arthrogryposis multiplex with skin and bone dysplasias: three new cases and review of the literature

21 January 2018

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Restrictive dermopathy: Report and review

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Dermatopathological aspects of restrictive dermopathy

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Lamin a truncation in Hutchinson-Gilford progeria.

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Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome

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The laminopathies: nuclear structure meets disease

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Review: the dynamics of the nuclear lamins during the cell cycle-- relationship between structure and function

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The nucleoskeleton: lamins and actin are major players in essential nuclear functions

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Protein prenylation: a pivotal posttranslational process

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

21 January 2018

1 reference

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Zmpste24 deficiency in mice causes spontaneous bone fractures, muscle weakness, and a prelamin A processing defect.

21 January 2018

1 reference

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Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia

21 January 2018

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The strange case of the "lumper" lamin A/C gene and human premature ageing

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Aging and nuclear organization: lamins and progeria

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Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome

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Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes

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How do mutations in lamins A and C cause disease?

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A synonymous codon change in the LMNA gene alters mRNA splicing and causes limb girdle muscular dystrophy type 1B

21 January 2018

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The carboxyl-terminal region common to lamins A and C contains a DNA binding domain.

21 January 2018

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Interaction between emerin and nuclear lamins

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Prenylated prelamin A interacts with Narf, a novel nuclear protein

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Molecular characterization of protein kinase C-alpha binding to lamin A.

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Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy

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Nuclear envelope alterations in fibroblasts from LGMD1B patients carrying nonsense Y259X heterozygous or homozygous mutation in lamin A/C gene

21 January 2018

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Aging of Hutchinson-Gilford progeria syndrome fibroblasts is characterised by hyperproliferation and increased apoptosis

21 January 2018

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Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C

21 January 2018

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Cloning of wrinkle-free, a previously uncharacterized mouse mutation, reveals crucial roles for fatty acid transport protein 4 in skin and hair development

21 January 2018

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Mice with targeted disruption of the fatty acid transport protein 4 (Fatp 4, Slc27a4) gene show features of lethal restrictive dermopathy

21 January 2018

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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

21 January 2018

1 reference

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ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein

21 January 2018

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The nuclear lamina is a meshwork of intermediate-type filaments

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH265