Results 51 to 60 of about 5,338 (235)

Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism

open access: yesNature Communications, 2020
Nebulin-based nemaline myopathy is a heterogenous disease with unclear pathological mechanisms. Here, the authors generate a mouse model that mimics the most common genetic cause of the disease and demonstrate that muscle weakness in this model is ...
Johan Lindqvist   +15 more
doaj   +1 more source

Nebulin no longer nebulous [PDF]

open access: yesJournal of General Physiology, 2018
JGP study probes how nebulin affects muscle function.
openaire   +1 more source

Identification of marbling-related candidate genes in M-longissimus dorsi of high- and low marbled Hanwoo (Korean native cattle) steers [PDF]

open access: yes, 2008
This study was conducted to identify marbling-related candidate genes in M. longissimus dorsi of high- and low-marbled Hanwoo. The longissimus dorsi muscles were selected for gene expression from eight Hanwoo steer carcasses based on crude fat content ...
Cho, Yong-Min   +10 more
core   +1 more source

Nebulin doesn't measure up [PDF]

open access: yesJournal of Cell Biology, 2010
![Figure][1] Nebulin (red) stabilizes actin filaments (green) to protect them from latrunculin A. In the protein’s absence (right), the depolymerizing drug causes filament disassembly.
openaire   +1 more source

Giant FAZ10 is required for flagellum attachment zone stabilization and furrow positioning in Trypanosoma brucei [PDF]

open access: yes, 2017
The flagellum and flagellum attachment zone (FAZ) are important cytoskeletal structures in trypanosomatids, being required for motility, cell division and cell morphogenesis.
Baqui, Munira M.A.   +3 more
core   +1 more source

An integration-free iPSC line (SDQLCHi017-A) derived from a patient with nemaline myopathy-2 disease carrying compound heterozygote mutations in NEB gene

open access: yesStem Cell Research, 2020
Nemaline myopathy-2 (NEM2) is an autosomal recessive skeletal muscle disorder caused by mutations in the nebulin (NEB) gene. We report the generation and characterization of a human induced pluripotent stem cell (iPSC) line SDQLCHi017-A, derived from a 1-
Yanyan Ma   +8 more
doaj   +1 more source

The LIM and SH3 domain protein family: structural proteins or signal transducers or both?

open access: yesMolecular Cancer, 2008
LIM and SH3 Protein 1 (LASP-1) was initially identified from a cDNA library of metastatic axillary lymph nodes (MLN) more than a decade ago. It was found to be overexpressed in human breast and ovarian cancer and became the first member of a newly ...
Butt Elke, Grunewald Thomas GP
doaj   +1 more source

Functional Classification of Skeletal Muscle Networks. I. Normal Physiology [PDF]

open access: yes, 2012
Extensive measurements of the parts list of human skeletal muscle through transcriptomics and other phenotypic assays offer the opportunity to reconstruct detailed functional models.
Subramaniam, Shankar   +2 more
core   +2 more sources

Nebulin: A Study of Protein Repeat Evolution

open access: yesJournal of Molecular Biology, 2010
Protein domain repeats are common in proteins that are central to the organization of a cell, in particular in eukaryotes. They are known to evolve through internal tandem duplications. However, the understanding of the underlying mechanisms is incomplete. To shed light on repeat expansion mechanisms, we have studied the evolution of the muscle protein
Björklund, Åsa K.   +3 more
openaire   +3 more sources

Capturing coevolutionary signals in repeat proteins [PDF]

open access: yes, 2014
The analysis of correlations of amino acid occurrences in globular proteins has led to the development of statistical tools that can identify native contacts -- portions of the chains that come to close distance in folded structural ensembles.
Espada, Rocío   +4 more
core   +5 more sources

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