Diverse lamin-dependent mechanisms interact to control chromatin dynamics: Focus on laminopathies

D Camozzi, C Capanni, V Cenni, E Mattioli… - Nucleus, 2014 - Taylor & Francis
Interconnected functional strategies govern chromatin dynamics in eukaryotic cells. In this
context, A and B type lamins, the nuclear intermediate filaments, act on diverse platforms …

Clinical Spectrum of LMNA-Associated Type 2 Familial Partial Lipodystrophy: A Systematic Review

A Fernandez-Pombo, EJ Diaz-Lopez, AI Castro… - Cells, 2023 - mdpi.com
Type 2 familial partial lipodystrophy (FPLD2) is a laminopathic lipodystrophy due to
pathogenic variants in the LMNA gene. Its rarity implies that it is not well-known. The aim of …

In silico investigation of molecular mechanism of laminopathy caused by a point mutation (R482W) in lamin A/C protein

V Rajendran, R Purohit, R Sethumadhavan - Amino acids, 2012 - Springer
Lamin A/C proteins are the major components of a thin proteinaceous filamentous
meshwork, the lamina, that underlies the inner nuclear membrane. A few specific mutations …

[HTML][HTML] Mandibuloacral dysplasia: A premature ageing disease with aspects of physiological ageing

V Cenni, MR D'Apice, P Garagnani, M Columbaro… - Ageing research …, 2018 - Elsevier
Mandibuloacral dysplasia (MAD) is a rare genetic condition characterized by bone
abnormalities including localized osteolysis and generalized osteoporosis, skin …

Laminopathies and lamin‐associated signaling pathways

NM Maraldi, C Capanni, V Cenni… - Journal of cellular …, 2011 - Wiley Online Library
Laminopathies are genetic diseases due to mutations or altered post‐translational
processing of nuclear envelope/lamina proteins. The majority of laminopathies are caused …

[HTML][HTML] Autophagic degradation of farnesylated prelamin A as a therapeutic approach to lamin-linked progeria

V Cenni, C Capanni, M Columbaro… - European journal of …, 2011 - ncbi.nlm.nih.gov
Farnesylated prelamin A is a processing intermediate produced in the lamin A maturation
pathway. Accumulation of a truncated farnesylated prelamin A form, called progerin, is a …

Adipokines and aging

Y Arai, M Takayama, Y Abe, N Hirose - Journal of atherosclerosis …, 2011 - jstage.jst.go.jp
The current epidemic of obesity has brought to light the role of adipose tissue as an active
endocrine organ in the regulation of energy homeostasis. Adipose tissue secretes a large …

The stromal‐vascular fraction of adipose tissue contributes to major differences between subcutaneous and visceral fat depots

JR Peinado, Y Jimenez‐Gomez, MR Pulido… - …, 2010 - Wiley Online Library
Adipose tissue represents a complex tissue both in terms of its cellular composition, as it
includes mature adipocytes and the various cell types comprising the stromal‐vascular …

Severe insulin resistance syndromes

AM Angelidi, A Filippaios… - The Journal of Clinical …, 2021 - Am Soc Clin Investig
Severe insulin resistance syndromes are a heterogeneous group of rare disorders
characterized by profound insulin resistance, substantial metabolic abnormalities, and a …

Nuclear envelope-related lipodystrophies

AC Guenantin, N Briand, G Bidault, P Afonso… - Seminars in Cell & …, 2014 - Elsevier
Several alterations in nuclear envelope proteins building up the lamina meshwork beneath
the inner nuclear membrane (mutations in lamins A/C, alterations of prelamin-A maturation …