Restrictive dermopathy: A newly recognized autosomal recessive skin dysplasia, American Journal of Medical Genetics, vol.18, issue.4, pp.631-648, 1986. ,
DOI : 10.1038/jid.1965.57
Restrictive dermopathy, a lethal form of arthrogryposis multiplex with skin and bone dysplasias: Three new cases and review of the literature, American Journal of Medical Genetics, vol.24, issue.3, pp.539-547, 1992. ,
DOI : 10.1002/ajmg.1320430308
Historical note on restrictive dermopathy and report of two new cases, American Journal of Medical Genetics, vol.101, issue.8, pp.1235-1237, 1993. ,
DOI : 10.1002/ajmg.1320470824
Restrictive dermopathy: Report and review, American Journal of Medical Genetics, vol.24, issue.2, pp.179-185, 1997. ,
DOI : 10.1002/ajmg.1320240408
Recurrent de novo point mutations in lamin A cause Hutchinson???Gilford progeria syndrome, Nature, vol.66, issue.6937, pp.293-298, 2003. ,
DOI : 10.1086/302836
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy, Human Molecular Genetics, vol.13, issue.20, pp.2493-2503, 2004. ,
DOI : 10.1136/jmg.37.10.746
URL : https://hal.archives-ouvertes.fr/hal-01668977
Identification and Chromosomal Location of Two Human Genes Encoding Enzymes Potentially Involved in Proteolytic Maturation of Farnesylated Proteins, Genomics, vol.58, issue.3, pp.270-280, 1999. ,
DOI : 10.1006/geno.1999.5834
Defective prelamin A processing and muscular and adipocyte alterations in Zmpste24 metalloproteinasedeficient mice, Nat. Genet, vol.31, pp.94-99, 2002. ,
Zmpste24 deficiency in mice causes spontaneous bone fractures, muscle weakness, and a prelamin A processing defect, Proc. Natl Acad. Sci. USA, pp.13049-13054, 2002. ,
DOI : 10.1002/ajmg.1463
Prelamin A endoproteolytic processing in vitro by recombinant Zmpste24, Biochem. J, pp.387-129, 2005. ,
A-type lamins: Guardians of the soma?, Nature Cell Biology, vol.24, issue.11, pp.1062-1067, 2004. ,
DOI : 10.1242/jcs.01630
On the occurrence of a fibrous lamina on the inner aspect of the nuclear envelope in certain cells of vertebrates, American Journal of Anatomy, vol.10, issue.1, pp.129-145, 1966. ,
DOI : 10.1016/B978-1-4832-3297-3.50007-1
Internal lamin structures within G1 nuclei of human dermal fibroblasts, J. Cell Sci, vol.104, issue.2, pp.297-306, 1993. ,
Lamin proteins form an internal nucleoskeleton as well as a peripheral lamina in human cells, J. Cell Sci, vol.108, issue.2, pp.635-644, 1995. ,
The nucleoskeleton: lamins and actin are major players in essential nuclear functions, Current Opinion in Cell Biology, vol.15, issue.3, pp.358-366, 2003. ,
DOI : 10.1016/S0955-0674(03)00050-4
Isoprenylation is required for the processing of the lamin A precursor, The Journal of Cell Biology, vol.110, issue.5, pp.1489-1499, 1990. ,
DOI : 10.1083/jcb.110.5.1489
The processing pathway of prelamin A, J. Cell Sci, vol.107, pp.61-67, 1994. ,
Heterozygosity for Lmna deficiency eliminates the progeria-like phenotypes in Zmpste24-deficient mice, Proc. Natl Acad. Sci. USA, pp.18111-18116, 2004. ,
DOI : 10.1073/pnas.0401424101
Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia, Human Molecular Genetics, vol.12, issue.16, 1995. ,
DOI : 10.1093/hmg/ddg213
The laminopathies: nuclear structure meets disease, Current Opinion in Genetics & Development, vol.13, issue.3, pp.223-230, 2003. ,
DOI : 10.1016/S0959-437X(03)00058-3
Aging and nuclear organization: lamins and progeria, Current Opinion in Cell Biology, vol.16, issue.3, pp.322-327, 2004. ,
DOI : 10.1016/j.ceb.2004.03.009
The strange case of the ???lumper??? lamin A/C gene and human premature ageing, Trends in Molecular Medicine, vol.9, issue.9, pp.370-375, 2003. ,
DOI : 10.1016/S1471-4914(03)00162-X
Restrictive Dermopathy in Two Brothers, Archives of Dermatology, vol.128, issue.2, pp.232-235, 1992. ,
DOI : 10.1001/archderm.1992.01680120104012
Restrictive Dermopathy<subtitle>Report of 12 Cases</subtitle>, Archives of Dermatology, vol.134, issue.5, pp.577-579, 1998. ,
DOI : 10.1001/archderm.134.5.577
Prenylated Prelamin A Interacts with Narf, a Novel Nuclear Protein, Journal of Biological Chemistry, vol.107, issue.42, pp.30008-30018, 1999. ,
DOI : 10.1073/pnas.91.1.418
SIGNAL-MEDIATED SORTING OF MEMBRANE PROTEINS BETWEEN THE ENDOPLASMIC RETICULUM AND THE GOLGI APPARATUS, Annual Review of Cell and Developmental Biology, vol.12, issue.1, pp.27-54, 1996. ,
DOI : 10.1146/annurev.cellbio.12.1.27
Ligase-based detection of mononucleotide repeat sequences, Nucleic Acids Research, vol.27, issue.24, p.40, 1999. ,
DOI : 10.1093/nar/27.24.e40
Differential rates of frameshift alterations in four repeat sequences of hereditary nonpolyposis colorectal cancer tumors, Human Genetics, vol.111, issue.3, pp.284-289, 2002. ,
DOI : 10.1007/s00439-002-0789-0
Instabilotyping: comprehensive identification of frameshift mutations caused by coding region microsatellite instability, Cancer Res, vol.61, pp.6046-6049, 2001. ,
Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome, Proc. Natl Acad. Sci. USA, pp.8963-8968, 2004. ,
DOI : 10.1016/0076-6879(91)00127-I
Protein prenylation: a pivotal posttranslational process, Biochemical and Biophysical Research Communications, vol.303, issue.1, pp.1-7, 2003. ,
DOI : 10.1016/S0006-291X(03)00323-1