| References |
|
|
Anisimov VN,
Zabezhinski MA,
Popovich IG et al.
(2010)
Rapamycin extends maximal lifespan in cancer‐prone mice.
American Journal of Pathology
176(5):
2092–2097.
|
|
|
Bione S,
Maestrini E,
Rivella S et al.
(1994)
Identification of a novel X‐linked gene responsible for Emery‐Dreifuss muscular dystrophy.
Nature Genetics
8(4):
323–327.
|
|
|
Bonne G,
Di Barletta MR and
Varnous S
(1999)
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery‐Dreifuss muscular dystrophy.
Nature Genetics
21(3):
285–288.
|
|
|
Bruston F,
Delbarre E,
Ostlund C et al.
(2010)
Loss of a DNA binding site within the tail of prelamin A contributes to altered heterochromatin anchorage by progerin.
FEBS Letters
584:
2999–3004.
|
|
|
Cao K,
Capell BC,
Erdos MR,
Djabali K and
Collins FS
(2007)
A lamin A protein isoforms overexpressed in Hutchinson‐Gilford progeria syndrome interferes with mitosis in progeria and normal cells.
Proceedings of the National Academy of Sciences of the USA
104(12):
4949–4954.
|
|
|
Cao K,
Graziotto JJ,
Blair CD et al.
(2011a)
Rapamycin reverses cellular phenotypes and enhances mutant protein clearance in Hutchinson‐Gilford progeria cells.
Science Translational Medicine
3(89):
89ra58.
|
|
|
Cao K,
Blair CD,
Faddah DA et al.
(2011b)
Progerin and telomere dysfunction collaborate to trigger cellular senescence in normal human fibroblasts.
Journal of Clinical Investigation
121(7):
2833–2844.
|
|
|
Capanni C,
Cenni V,
Mattioli E et al.
(2003)
Failure of lamin A/C to functionally assemble in R482L mutated familial partial lipodystrophy fibroblasts: altered intermolecular interaction with emerin and implications for gene transcription.
Experimental Cell Research
291(1):
122–134.
|
|
|
Capell BC and
Collins FS
(2006)
Human laminopathies: nuclei gone genetically awry.
Nature Genetics
7:
940–952.
|
|
|
Capell BC,
Erdos MR,
Madigan JP et al.
(2005)
Inhibiting Farnesylation of progerin prevents the characteristic nuclear blebbing of Hutchinson‐Gilford progeria syndrome.
Proceedings of the National Academy of Sciences of the USA
102:
12879–12884.
|
|
|
Capell BC,
Olive M,
Erdos MR et al.
(2008)
A farnesyltransferase inhibitor prevents both the onset and late progression of cardiovascular disease in a progeria mouse model.
Proceedings of the National Academy of Sciences of the USA
105(41):
15902–15907.
|
|
|
De Sandre‐Giovannoli A,
Bernard R,
Cau P et al.
(2003)
Lamin A truncation in Hutchinson‐Gilford progeria syndrome.
Science
300:
2055.
|
|
|
De Sandre‐Giovannoli A,
Chaouch M,
Kozlov S et al.
(2002)
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.
American Journal of Human Genetics
70(3):
726–736.
|
|
|
Dechat T,
Shimi T,
Adam SA et al.
(2007)
Alterations in mitosis and cell cycle progression caused by mutant lamin A known to accelerate human aging.
Proceedings of the National Academy of Sciences of the USA
104:
4955–4960.
|
|
|
Dechat T,
Adam SA,
Taimen P et al.
(2010)
Nuclear Lamins.
Cold Spring Harbor Perspectives in Biology
2(11):
a000547.
|
|
|
Dechat T,
Pfleghaar K,
Sengupta K et al.
(2008)
Nuclear lamins: major factors in the structural organization and function of the nucleus and chromatin.
Genes & Development
22(7):
832–853.
|
|
|
Delbarre E,
Tramier M and
Coppey‐Moisan M
(2006)
The truncated prelamin A in Hutchinson‐Gilford progeria syndrome alters segregation of A‐type and B‐type lamin homopolymers.
Human Molecular Genetics
15:
1113–1122.
|
|
|
Eriksson M,
Brown WT and
Gordon LB
(2003)
Recurrent de novo point mutations in lamin A cause Hutchinson‐Gilford progeria syndrome.
Nature
423:
293–298.
|
|
|
Filesi I,
Gullotta F and
Lattanzi G
(2005)
Alterations in nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy.
Physiological Genomics
23:
150–158.
|
|
|
Folker ES,
Ostlund C,
Luxton GW,
Worman HJ and
Gundersen GG
(2011)
Lamin A variants that cause striated muscle disease are defective in anchoring transmembrane actin‐associated nuclear lines for nuclear movement.
Proceedings of the National Academy of Sciences of the USA
108(1):
131–136.
|
|
|
Fong LG,
Frost D,
Meta M et al.
(2006)
A protein farnesyltransferase inhibitor ameliorates disease in a mouse model of progeria.
Science
311(5767):
1621–1623
|
|
|
Fong LG,
Ng JK,
Meta M et al.
(2004)
Heterozygosity for LMNA deficiency eliminates the progeria‐like phenotypes in Zmpste24‐deficient mice.
Proceedings of the National Academy of Sciences of the USA
101(52):
18111–18116
|
|
|
Glynn MW and
Glover TW
(2005)
Incomplete processing of mutant lamin A in Hutchinson‐Gilford progeria leads to nuclear abnormalities, which are reversed by farnesyltransferase inhibition.
Human Molecular Genetics
14:
2959–2969.
|
|
|
Goldman AE,
Maul G,
Steinert PM,
Yang HY and
Goldman RD
(1986)
Keratin‐like proteins that coisolate with intermediate filaments of BHK‐21 cells are nuclear lamins.
Proceedings of the National Academy of Sciences of the USA
83:
3839–3843.
|
|
|
Goldman RD,
Shumaker DK and
Erdos MR
(2004)
Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson‐Gilford progeria syndrome.
Proceedings of the National Academy of Sciences of the USA
101:
8963–8968.
|
|
|
Goldman RD,
Gruendbaum Y,
Moir RD,
Shumaker DK and
Spann TP
(2002)
Nuclear lamins: building blocks of nuclear architecture.
Genes & Development
16:
533–547.
|
|
|
Johnson BR,
Nitta RT and
Frock RL
(2004)
A‐type lamins regulate retinoblastoma protein function by promoting subnuclear localization and preventing proteosomal degradation.
Proceedings of the National Academy of Sciences of the USA
101:
19677–19682.
|
|
|
Kubben N,
Voncken JW and
Demmers J
(2011)
Identification of differential protein interactors of lamin A and progerin.
Nucleus
1(6):
513–525.
|
|
|
Liu G,
Barkho BZ,
Ruiz S et al.
(2011)
Recapitulation of premature ageing with iPSCs from Hutchinson‐Gilford progeria syndrome.
Nature
472:
221–225.
|
|
|
Loewinger L and
McKeon F
(1998)
Mutations in the nuclear lamina proteins result in their aberrant assembly in the cytoplasm.
EMBO Journal
7:
2301–2309.
|
|
|
Lombardi F,
Fasciglione GF and
D'Apice MR
(2008)
Increased release and activity of matrix metalloproteinase‐9 in patients with mandibuloacral dysplasia type A, a rare premature ageing syndrome.
Clinical Genetics
74(4):
374–383.
|
|
|
Lombardi F,
Gullotta F and
Columbaro M
(2007)
Compound heterozygos ity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype.
Journal of Clinical Endocrinology and Metabolism
92(11):
4467–4471.
|
|
|
Marji J,
O'Donoghue SI and
McClintock D
(2010)
Defective Lamin A‐Rb signaling in Hutchinson‐Gilford progeria syndrome and reversal by farnesyltransferase inhibition.
PLoS ONE
5(6):
e11132.
|
|
|
Musich PR and
Zou Z
(2009)
Genomic instability and DNA damage responses in progeria aging from defective maturation of prelamin A.
Aging
1:
28–37.
|
|
|
Novelli G,
Muchir A and
Sangiuolo F
(2002)
Mandibuloacral dysplasia is caused by a mutation in LMNA‐encoding lamin A/C.
American Journal of Human Genetics
71:
426–431.
|
|
|
Olive M,
Harten I and
Mitchell R
(2010)
Cardiovascular pathology in Hutchinson‐Gilford progeria: correlation with the vascular pathology of aging.
Arteriosclerosis, Thrombosis, and Vascular Biology
30(11):
2301–2309.
|
|
|
Osorio FG,
Navarro CL and
Cadiñanos J
(2011)
Splicing‐directed therapy in a new mouse model of human accelerated aging.
Science Translational Medicine
3(106):
106ra107.
|
|
|
Scaffidi P and
Misteli T
(2005)
Reversal of the cellular phenotype in the premature aging disease Hutchison‐Gilford progeria syndrome.
Nature Medicine
11:
440–445.
|
|
|
Scaffidi P and
Misteli T
(2006)
Lamin A‐dependent nuclear defects in human aging.
Science
312:
1059–1063.
|
|
|
Scaffidi P and
Misteli T
(2008)
Lamin A‐dependent misregulation of adult stem cells associated with accelerated ageing.
Nature Cell Biology
10(4):
452–459.
|
|
|
Scheider R and
Groschedl R
(2007)
Dynamics and interplay of nuclear architecture, genome organization, and gene expression.
Genes & Development
21:
3027–3043.
|
|
|
Shimi T,
Pfleghaar K and
Kojima S
(2008)
The A‐ and B‐type nuclear lamin networks: microdomains involved in chromatin organization and transcription.
Genes & Development
22:
3409–3421.
|
|
|
Shumaker DK,
Dechat T and
Kohlmaier A
(2006)
Mutant nuclear lamin A leads to progressive alterations of epigenetic control in premature aging.
Proceedings of the National Academy of Sciences of the USA
103:
8703–8708.
|
|
|
Toth JI,
Yang SH,
Qiao X et al.
(2005)
Blocking protein farnesyltransferase improves nuclear shape in fibroblasts from humans with progeroid syndromes.
Proceedings of the National Academy of Sciences of the USA
102(36):
12873–12878.
|
|
|
Tsai MY,
Wang S and
Heidinger JM
(2006)
A mitotic lamin B matrix induced by RanGTP required for spindle assembly.
Science
311(5769):
1887–1893.
|
|
|
Varela I,
Pereira S and
Ugalde AP
(2008)
Combined treatment with statins and aminobisphosphonates extends longevity in a mouse model of human premature aging.
Nature Medicine
14(7):
767–772.
|
|
|
Verstraeten VL,
Peckham LA,
Olive M et al.
(2011)
Protein farnesylation inhibitors cause donut‐shaped cell nuclei attributable to a centrosome separation defect.
Proceedings of the National Academy of Sciences of the USA
108(12):
4997–5002.
|
|
|
Worman H,
Fong LG,
Muchir A and
Young SG
(2009)
Laminopathies and the long strange trip from basic cell biology to therapy.
Journal of Clinical Investigation
119:
1825–1836.
|
|
|
Young J,
Morbois‐Trabut L and
Couzinet B
(2005)
Type A insulin resistance syndrome revealing a novel lamin A mutation.
Diabetes
54:
1873–1878.
|
|
|
Zhang J,
Lian Q and
Zhu G
(2011)
A human iPSC model of Hutchinson‐Gilford Progeria reveals vascular smooth muscle and mesenchymal stem cell defects.
Cell Stem Cell
8:
1–15.
|
| Further Reading |
|
|
Hernandez L,
Roux KJ and
Wong ES
(2010)
Functional coupling between the extracellular matrix and nuclear lamina in Wnt signaling in progeria.
Developmental Cell
19:
413–425.
|
|
|
Hetzer MW and
Wente SR
(2009)
Border control at the nucleus: biogenesis and organization of the nuclear membrane and pore complexes.
Developmental Cell
17:
606–616.
|
|
|
Lusk CP,
Blobel G and
King MC
(2007)
Highway to the inner nuclear membrane: rules for the road.
Nature Reviews Molecular Cell Biology
8:
414–420.
|
|
|
Parnaik VK,
Chaturvedi P and
Muralkrishna B
(2011)
Lamins, laminopathies and disease mechanisms: possible role for proteosomal degradation of key regulatory proteins.
Journal of Bioscience
36(3):
471–479.
|
|
|
Ruis BL,
Fattah KR and
Hendrickson EA
(2008)
The catalytic subunit of DNA‐dependent protein kinase regulates proliferation, telomere length, and genomic stability in human somatic cells.
Molecular Cell Biology
28(20):
6182–6195.
|
|
|
Schirmer EC and
Gerace L
(2005)
The nuclear membrane proteome: extending the envelope.
Trends in Biochemical Science
30:
551–558.
|
|
|
Stuurman N,
Heins S and
Aebi U
(1998)
Nuclear lamins: their structure, assembly and interactions.
Journal of Structural Biology
122:
42–66.
|
