Results 51 to 60 of about 747,509 (280)

Pharmacological Rescue of Nonsense Mutations in Rett Syndrome [PDF]

, 2010
Rett syndrome is a neurological condition that affects primarily girls. Approximately 40% of Rett syndrome cases arise from nonsense mutations. Several studies have shown that certain aminoglycosides can suppress some types of nonsense mutations in a ...
Popescu, Andreea
core   +2 more sources

p190A/ARHGAP35 and p190B/ARHGAP5 proteins in endometrial cancer: a novel cancer‐relevant paralog interplay

Molecular Oncology, EarlyView.
This study identifies ARHGAP5, in addition to the frequently mutated ARHGAP35, as significantly mutated in endometrial cancer. Mutations in both genes co‐occur and are associated with their correlated downregulation. Functional CRISPR studies show that both paralogs regulate similar pathways, including actin cytoskeleton organization.
Mathilde Pinault, Capucine Heraud, Mélissa Correia de Oliveira, Véronique Neaud, Valérie Valesco, Valérie Prouzet‐Mauleon, Béatrice Turcq, Jean‐William Dupuy, Anne‐Aurélie Raymond, Sabrina Croce, Frédéric Saltel, Valérie Lagrée, Violaine Moreau   +12 more
wiley   +1 more source

APC nonsense mutations.

, 2013
*Mutations are named by the position and the nature of the wild-type amino acid in APC protein sequence.§These nonsense mutation sequences were inserted into the dual reporter vector in order to determine readthrough level.†Frequencies were given ...
Jean-Pierre Rousset (26086), Célia Floquet (174515), Laure Bidou (174525)   +2 more
core   +1 more source

KDAC6 alters cell morphology and motility through positive and negative modulation of F‐actin distribution

FEBS Open Bio, EarlyView.
KDAC6 has been associated with cell motility and actin structures, but specific domain contributions are not established. The two catalytic domains have differential effects on motility and F‐actin regulation, affecting cortical F‐actin density, motility, stress fibers, and cell spreading.
Taylor V. Joseph, Andrea B. Pham, Kiara E. Bornes, Razan H. Hammad, Chelsea A. Rousseve‐Ross, Thomas M. Huckaba, Terry J. Watt, Tasha B. Toro   +7 more
wiley   +1 more source

Therapeutic Nonsense Suppression Modalities: From Small Molecules to Nucleic Acid-Based Approaches

Biomedicines
Nonsense mutations are genetic mutations that create premature termination codons (PTCs), leading to truncated, defective proteins in diseases such as cystic fibrosis, neurofibromatosis type 1, Dravet syndrome, Hurler syndrome, Beta thalassemia ...
Pedro Morais, Rui Zhang, Yi-Tao Yu
doaj   +1 more source

A Novel G542X CFTR Rat Model of Cystic Fibrosis Is Sensitive to Nonsense Mediated Decay

Frontiers in Physiology, 2020
Nonsense mutations that lead to the insertion of a premature termination codon (PTC) in the cystic fibrosis transmembrane conductance regulator (CFTR) transcript affect 11% of patients with cystic fibrosis (CF) worldwide and are associated with severe ...
Jyoti Sharma, Jyoti Sharma, Joseph Abbott, Lauren Klaskala, Guojun Zhao, Susan E. Birket, Susan E. Birket, Steven M. Rowe, Steven M. Rowe   +8 more
doaj   +1 more source

The bioenergetic status relates to dopamine neuron loss in familial PD with PINK1 mutations [PDF]

, 2012
Mutations in the PINK1 gene cause autosomal recessive familial Parkinson’s disease (PD). The gene encodes a mitochondrial protein kinase that plays an important role in maintaining mitochondrial function and integrity.
Johann Hagenah, Neumaier, Bernd, Roggendorf, J., Julia Roggendorf, Roggendorf, Julia, Johannes C Klein, Hattingen, E., Steinmetz, H., Hagenah, Johann, Hagenah, J., Klein, Johannes C., Eggers, C., Hilker, Rüediger, Klein, Christine, Hattingen, Elke, Klein, C., Fink, Gereon R., Pilatus, U., Ulrich Pilatus, Elke Hattingen, Bernd Neumaier, Klein, Johannes Christian, Baudrexel, S., Hilker, Rüdiger, Eggers, Carsten, Neumaier, B., Hagenah, Johann Meinert, Carsten Eggers, Klein, J., Helmuth Steinmetz, Fink, Gereon Rudolf, Steinmetz, Helmuth, Pilatus, Ulrich, Fink, G., Rüediger Hilker, Baudrexel, Simon, Gereon R Fink, Christine Klein, Hilker, R., Simon Baudrexel   +39 more
core   +1 more source

Avidin is evolutionarily conserved in fish but dispensable for development and resistance against Streptococcus agalactiae in zebrafish

FEBS Open Bio, EarlyView.
The presence of biotin‐binding avidin proteins in fish and their biological significance are poorly characterized. We cataloged fish avidins and demonstrate that they are widely present and evolutionarily conserved. We created avd knockout zebrafish and show that zebavidin is dispensable for development and that resistance of avd knockout embryos in ...
Anni K. Saralahti, Markus J. T. Ojanen, Mataleena Parikka, Otto Kauko, Mika Rämet, Vesa P. Hytönen   +5 more
wiley   +1 more source

Aminoglycosides, but not PTC124 (Ataluren), rescue nonsense mutations in the leptin receptor and in luciferase reporter genes

Scientific Reports, 2017
In rare cases, monogenetic obesity is caused by nonsense mutations in genes regulating energy balance. A key factor herein is the leptin receptor. Here, we focus on leptin receptor nonsense variants causing obesity, namely the human W31X, murine Y333X ...
Florian Bolze, Sabine Mocek, Anika Zimmermann, Martin Klingenspor   +3 more
doaj   +1 more source

F8 gene mutation spectrum in severe hemophilia A with inhibitors: A large cohort data analysis from a single center in China

Research and Practice in Thrombosis and Haemostasis, 2022
Introduction Type of F8 gene mutation is the most important risk factor for inhibitor development in people with severe hemophilia A. However, there are few large cohort studies on the F8 mutation spectrum of people with severe hemophilia A with ...
Jie Sun, Zekun Li, Kun Huang, Di Ai, Gang Li, Xingjuan Xie, Hao Gu, Guoqing Liu, Yingzi Zhen, Zhenping Chen, Runhui Wu   +10 more
doaj   +1 more source