Results 91 to 100 of about 4,186 (177)
, 2020 Mutations in the gene encoding emerin (EMD) cause Emery-Dreifuss muscular dystrophy (EDMD1), an inherited disorder characterized by progressive skeletal muscle wasting, irregular heart rhythms and contractures of major tendons.
Iyer, Ashvin
core
Developmental changes in nuclear lamina components during germ cell differentiation
NucleusThe nuclear lamina (NL) changes composition for regulation of nuclear events. We investigated changes that occur in Drosophila oogenesis, revealing switches in NL composition during germ cell differentiation.
Isabella E. Perales +3 more
doaj +1 more source
IMPACT OF BETA‐DYSTROGLYCAN DEFICIENCY ON EMERIN FUNCTIONS
The FASEB Journal, 2018 Beta‐dystroglycan (b‐DG) is a plasma membrane protein that belongs to the dystrophin‐associated protein complex (DAPC), the latter provides a link between the extracellular matrix and the cytoskeleton. Previously we reported that b‐DG is translocated localized to the nucleus via recognition of its nuclear localization signal (NLS), located in the ...
Jesús Mauricio Ernesto Hernández Méndez +5 more
openaire +1 more source
Nuclear envelope proteins and chromatin arrangement: a pathogenic mechanism for laminopathies
European Journal of Histochemistry, 2009 The involvement of the nuclear envelope in the modulation of chromatin organization is strongly suggested by the increasing number of human diseases due to mutations of nuclear envelope proteins.
NM Maraldi +6 more
doaj +1 more source
Investigating the Role of Emerin in Nuclear Envelope Budding and Muscular Disease [PDF]
, 2023 Nuclear envelope (NE) budding was first observed in the mid-20th century and has garnered more interest in recent years. Believed to follow a mechanism similar to herpes virus (HV) egress, the dynamics of this phenomenon have not been well documented in ...
Probst, Maxwell
core
Emerin Binds the Pointed End of Actin Filaments
, 2013 (A) Gelsolin–actin seeds were incubated with increasing concentrations of wild-type emerin residues 1–222. Emerin significantly reduced the rate of subunit addition at the pointed end, with an apparent Kd of 430 nM (range, 300–500 nM, n = 12). R, rate of
Amy K Kowalski (56692) +2 more
core +1 more source
An Intronic Heterozygous SYNE2 Splice Site Mutation: A Rare Cause for Myalgia and hyperCKemia?
MusclesSYNE2 mutations have been associated with skeletal and cardiac muscle diseases, including Emery-Dreifuss muscular dystrophy (EDMD). Here, we present a 70-year-old male patient with muscle pain and elevated serum creatine kinase levels in whom whole-exome
Theresa Paulus +10 more
doaj +1 more source
The Role of Emerin in Myogenic Differentiation
The nucleus harbors genetic material encapsulated by the nuclear envelope which is composed of an inner and outer nuclear membrane. The establishment and organization of chromatin at the INM is essential for cell fate during the differentiation program ...
Marano, Nicholas
core +1 more source
, 2002 Emerin is the nuclear membrane protein defective in X-linked Emery-Dreifuss muscular dystrophy (X-EDMD). The majority of X-EDMD patients have no detectable emerin.
Kendrick-Jones, J +3 more
core +3 more sources
Pharmacogenomics and Personalized Medicine, 2019 Demiao Kong,1,2,* Yi Zhan,3,* Canzhao Liu,4 Yerong Hu,1 Yangzhao Zhou,1,4 Jiawen Luo,1 Lu Gu,1 Xinmin Zhou,1 Zhiwei Zhang1,4 1Department of Cardiovascular Surgery, The Second Xiangya Hospital, Central South University, Changsha, Hunan 410011, China ...
Kong D +8 more
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