Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors. (Q46447976)

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11 January 2020

title

Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors (English)

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Annachiara De Sandre-Giovannoli

11 January 2020

main subject

restrictive dermopathy

1 reference

based on heuristic

inferred from title

author

3

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11 January 2020

Carlos López Otín

15

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11 January 2020

Nicolas Levy

17

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11 January 2020

Claire L Navarro

1

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11 January 2020

Juan Cadiñanos

2

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11 January 2020

Jose M Freije

12

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11 January 2020

13

Pierre Cau

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11 January 2020

author name string

Rafaëlle Bernard

4

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11 January 2020

Sébastien Courrier

5

1 reference

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11 January 2020

Irène Boccaccio

6

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11 January 2020

Amandine Boyer

7

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11 January 2020

Wim J Kleijer

8

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11 January 2020

Anja Wagner

9

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11 January 2020

Fabienne Giuliano

10

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11 January 2020

Frits A Beemer

11

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11 January 2020

Raoul C M Hennekam

14

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11 January 2020

Catherine Badens

16

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11 January 2020

publication date

20 April 2005

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11 January 2020

published in

Human Molecular Genetics

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11 January 2020

volume

14

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11 January 2020

issue

11

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11 January 2020

page(s)

1503-1513

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Restrictive dermopathy: a newly recognized autosomal recessive skin dysplasia

11 January 2020

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

21 January 2018

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Lamin a truncation in Hutchinson-Gilford progeria.

21 January 2018

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

21 January 2018

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

21 January 2018

1 reference

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Identification and chromosomal location of two human genes encoding enzymes potentially involved in proteolytic maturation of farnesylated proteins

21 January 2018

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

21 January 2018

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

21 January 2018

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Prelamin A endoproteolytic processing in vitro by recombinant Zmpste24

21 January 2018

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A-type lamins: guardians of the soma?

21 January 2018

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

21 January 2018

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Isoprenylation is required for the processing of the lamin A precursor

21 January 2018

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Heterozygosity for Lmna deficiency eliminates the progeria-like phenotypes in Zmpste24-deficient mice

21 January 2018

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Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia

21 January 2018

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The laminopathies: nuclear structure meets disease

21 January 2018

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Aging and nuclear organization: lamins and progeria

21 January 2018

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

21 January 2018

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Prenylated prelamin A interacts with Narf, a novel nuclear protein

21 January 2018

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Signal-mediated sorting of membrane proteins between the endoplasmic reticulum and the golgi apparatus

21 January 2018

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Ligase-based detection of mononucleotide repeat sequences

21 January 2018

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Bias in detection of instability of the (C)8 mononucleotide repeat of MSH6 in tumours from HNPCC patients

21 January 2018

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Differential rates of frameshift alterations in four repeat sequences of hereditary nonpolyposis colorectal cancer tumors

21 January 2018

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

21 January 2018

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Protein prenylation: a pivotal posttranslational process

21 January 2018

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