Results 21 to 30 of about 745 (121)

KLHL41 stabilizes skeletal muscle sarcomeres by nonproteolytic ubiquitination

eLife, 2017
Maintenance of muscle function requires assembly of contractile proteins into highly organized sarcomeres. Mutations in Kelch-like protein 41 (KLHL41) cause nemaline myopathy, a fatal muscle disorder associated with sarcomere disarray.
Andres Ramirez-Martinez, Bercin Kutluk Cenik, Svetlana Bezprozvannaya, Beibei Chen, Rhonda Bassel-Duby, Ning Liu, Eric N Olson   +6 more
doaj   +1 more source

Functionalization of the BCL6 BTB domain into a noncovalent crystallization chaperone

IUCrJ, 2021
The production of diffraction-quality protein crystals is challenging and often requires bespoke, time-consuming and expensive strategies. A system has been developed in which the BCL6 BTB domain acts as a crystallization chaperone and promiscuous ...
Thomas Zacharchenko, Stephanie Wright
doaj   +1 more source

Nemaline myopathy: clinical, histochemical and immunohistochemical features Miopatia nemalínica: achados clínicos, histoquímicos e imuno-histoquímicos

Arquivos de Neuro-Psiquiatria, 2009
Nemaline myopathy (NM) is a congenital disease that leads to hypotonia and feeding difficulties in neonates. Some cases have a more benign course, with skeletal abnormalities later in life.
Nazah Cherif Mohamad Youssef, Rosana Herminia Scola, Paulo José Lorenzoni, Lineu César Werneck   +3 more
doaj   +1 more source

Multi-omic data integration for the study of production, carcass, and meat quality traits in Nellore cattle

Frontiers in Genetics, 2022
Data integration using hierarchical analysis based on the central dogma or common pathway enrichment analysis may not reveal non-obvious relationships among omic data.
Francisco José de Novais, Haipeng Yu, Aline Silva Mello Cesar, Mehdi Momen, Mirele Daiana Poleti, Bruna Petry, Gerson Barreto Mourão, Luciana Correia de Almeida Regitano, Gota Morota, Luiz Lehmann Coutinho   +9 more
doaj   +1 more source

Change in the content of titin and nebulin and their phosphorylation level in the quadriceps femoris muscle in chronic alcoholic myopathy

Неврология, нейропсихиатрия, психосоматика, 2019
Objective: to assess the structural and functional state of skeletal muscles in the hip, as well as changes in the content of the sarcomere cytoskeleton proteins titin and nebulin and their phosphorylation level in patients with chronic alcohol ...
O. E. Zinovyeva, N. D. Samkhaeva, I. M. Vikhlyantsev, A. D. Ulanova, G. Z. Mikhailova, N. S. Shcheglova, D. O. Kazakov, A. Yu. Emelyanova, A. M. Nosovsky   +8 more
doaj   +1 more source

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

Nature 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, Weikang Ma, Frank Li, Yaeren Hernandez, Justin Kolb, Balazs Kiss, Paola Tonino, Robbert van der Pijl, Esmat Karimi, Henry Gong, Josh Strom, Zaynab Hourani, John E. Smith, Coen Ottenheijm, Thomas Irving, Henk Granzier   +15 more
doaj   +1 more source

Nebulin : A Study of Protein Repeat Evolution [PDF]

, 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.
Rauan Sagit, Björklund, Åsa K., Sagit, Rauan,, Sara Light, Björklund, Åsa K.,, Arne Elofsson, Elofsson, Arne,, Light, Sara,, Light, Sara, Sagit, Rauan, Elofsson, Arne, Åsa K. Björklund   +11 more
core   +1 more source

Expression and Purification of Large Nebulin Fragments and Their Interaction with Actin [PDF]

, 1998
cDNA clones encoding mouse skeletal muscle nebulin were expressed in Escherichia coli as thioredoxin fusion proteins and purified in the presence of 6M urea. These fragments, called 7a and 8c, contain 28 and 19 of the weakly repeating ∼35-residue nebulin
Zhang, Jian Q., Weisberg, Andrea, Horowits, Robert   +2 more
core   +1 more source

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

Molecular 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

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

Stem 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, Haiyan Zhang, Xiaomei Li, Xiaomeng Yang, Yue Li, Jingyun Guan, Yuqiang Lv, Zhongtao Gai, Yi Liu   +8 more
doaj   +1 more source