Advances in basic and clinical research in laminopathies
PBN-AR
Instytucja
Instytut Medycyny Doświadczalnej i Klinicznej im. Mirosława Mossakowskiego Polskiej Akademii Nauk
Informacje podstawowe
Główny język publikacji
angielski
Czasopismo
Acta Myologica
ISSN
1128-2460
EISSN
Wydawca
DOI
URL
Rok publikacji
2013
Numer zeszytu
1
Strony od-do
18-22
Numer tomu
32
Identyfikator DOI
Liczba arkuszy
0,5
Słowa kluczowe
pl
LMNA A/C gene
laminopathies
Emery-Dreifuss muscular dystrophy
Streszczenia
Język
angielski
Treść
Lamins (LMNA) are the main proteins of the nuclear lamina considered to be the ancestors of all intermediate filament proteins. They form complex protein assemblies with integral proteins of the inner nuclear membrane, transcriptional regulators, histones and chromatin modifiers. During recent years, interest in lamins has greatly increased due to the identification of many distinct heritable human disorders associated with lamin mutations. These disorders, collectively termed laminopathies, range from muscular dystrophies to premature aging. They may affect muscle, fat, bone, nerve and skin tissues. The workshop was addressed to understand lamin organization and its roles in nuclear processes, mutations in lamins affecting cell and tissues functions, the biology of the nucleus and laminopathic disease mechanisms, all aspects important for designing future therapies.
Cechy publikacji
ORIGINAL_ARTICLE
Inne
System-identifier
590349