This book draws together contributions from cell and developmental
biologists, structural biologists, geneticists and clinical
scientists aimed at a better understanding of the cellular and
molecular basis of these diseases. Topics include:
* How nuclear structure and location within a nucleus affect gene
expression
* Chromatin organization and cell differentiation
* The nature of the interactions between the nuclear envelope and
the cytoskeleton
* The extent to which the cytoskeleton mediates communication
between the cell membrane and nucleus in regulating gene expression
and whether disruption of such communication might underlie the
disease processes
It is hoped that a better understanding of the mechanisms
leading to disease pathogenesis may ultimately lead to more
rational and appropriate treatments.
สารบัญ
Chair’s Introduction (R. Goldman).
Nuclear lamins: building blocks of nuclear structure and
function (R. Goldman, et al.).
Aspects of nuclear envelope dynamics in mitotic cells (B. Burke,
et al.).
Components of the nuclear envelope and their role in human
disease (H. Worman).
Nuclear membrane protein emerin: roles in gene regulation, actin
dynamics and human disease (K. Wilson, et al.).
Identification of novel integral membrane proteins of the
nuclear envelope with potential disease links using subtractive
proteomics (E. Schirmer, et al.).
Genetics of laminopathies (R. Ben Yaou, et al.).
Muscular dystrophies related to the cytoskeleton/nuclear
envelope (K. Nowak, et al.).
Skeletal and cardiac muscle defects in a murine model of
Emery-Dreifuss muscular dystrophy (M. Grattan, et al.).
Multiple pathways tether telomeres and silent chromatin at the
nuclear periphery: functional implications for Sir-mediated
repression (A. Taddei, et al.).
A-type lamin-linked lipodystrophies (C. Vigouroux and J.
Capeau).
Cytoskeletal defects in amyotrophic lateral sclerosis (motor
neuron disease) (J. Julien, et al.).
LMNA mutations in progeroid syndromes (S. Huang, et
al.).
A genetic approach to study the role of nuclear envelope
components in nuclear positioning (D. Starr and M. Han).
General Discussion I.
A lamin-dependent pathway that regulates nuclear organization,
cell cycle progression and germ cell development (A. Margalit, et
al.).
Mutations in the mouse Lmna gene causing progeria,
muscular dystrophy and cardiomyopathy (S. Kozlov, et al.).
The nuclear membrane and mechanotransduction: impaired nuclear
mechanics and mechanotransduction in lamin A/C-deficient cells (J.
Lammerding and R. Lee).
Chair’s summing up (R. Goldman).
Index of contributors.
Subject index.
เกี่ยวกับผู้แต่ง
The Novartis Foundation is an international scientific and
educational charity which promotes the study and general knowledge
of science and in particular encourages international co-operation
in scientific research.
Chair: Robert D. Goldman
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