Results 131 to 140 of about 1,069,421 (301)

A novel homozygous variant in the ATP7B gene in a patient with Wilson’s disease: a case report

Frontiers in Medicine
In this article, we describe a case of a novel variant of the ATP7B gene identified in a boy of Short ethnicity with Wilson’s disease (WD). Wilson’s disease is a chronic autosomal recessive disorder caused by pathogenic variants in the ATP7B gene.
Valentina E. Shavrak, Irina Z. Zhalsanova, Elizaveta A. Fonova, Daria N. Erburova, Nikita A. Kolesnikov, Sergei S. Fomenko, Valeria V. Petrova, Gulnara N. Seitova, Vadim A. Stepanov, Nikolay A. Skryabin   +9 more
doaj   +1 more source

The planar cell polarity protein Vangl2 interacts with the PDZ‐domains of Scribble but not with a unique PDZ‐like domain in Inturned

FEBS Letters, EarlyView.
Structural and biochemical characterisations show that the planar cell polarity (PCP) protein Inturned harbours a unique PDZ‐like domain that does not bind canonical PDZ‐binding motifs (PBMs) like that of another PCP protein Vangl2. In contrast, the apical‐basal polarity protein Scribble contains four PDZ domains that bind Vangl2, but one PDZ domain ...
Stephan Wilmes, Jan Brysch, Carmen Gelze, Lilli Meier, Daniel Kümmel   +4 more
wiley   +1 more source

Case Report: Cabezas syndrome caused by CUL4B gene mutations in two unrelated Chinese boys

Frontiers in Neuroscience
As a component of the ubiquitin ligase complex, Cullin 4B (CUL4B) is involved in the process of ubiquitination of different substrates, controlling genome stability, nucleotide excision repair, and chromatin-remodeling.
Li Lin, Li Lin, Qi Yang, Qi Yang, Shujie Zhang, Shujie Zhang, Xunzhao Zhou, Xunzhao Zhou, Xiaoling Li, Sheng Yi, Sheng Yi, Qiang Zhang, Qiang Zhang, Shang Yi, Shang Yi, Sheng He, Sheng He, Zailong Qin, Zailong Qin, Jingsi Luo, Jingsi Luo, Jingsi Luo   +21 more
doaj   +1 more source

Tau acetylation at K331 has limited impact on tau pathology in vivo

FEBS Letters, EarlyView.
We mapped tau post‐translational modifications in humanized MAPT knock‐in mice and in amyloid‐bearing double knock‐in mice. Acetylation within the repeat domain, particularly around K331, showed modest increases under amyloid pathology. To test functional relevance, we generated MAPTK331Q knock‐in mice.
Shoko Hashimoto, Yukio Matsuba, Mika Takahashi, Takaomi C. Saido   +3 more
wiley   +1 more source

Structural insights into an engineered feruloyl esterase with improved MHET degrading properties

FEBS Letters, EarlyView.
A feruloyl esterase was engineered to mimic key features of MHETase, enhancing the degradation of PET oligomers. Structural and computational analysis reveal how a point mutation stabilizes the active site and reshapes the binding cleft, expading substrate scope.
Panagiota Karampa, Konstantinos Makryniotis, Theofani‐Iosifina Sousani, Evangelos Topakas, Vangelis Daskalakis, Maria Dimarogona   +5 more
wiley   +1 more source

Gut microbiome and aging—A dynamic interplay of microbes, metabolites, and the immune system

FEBS Letters, EarlyView.
Age‐dependent shifts in microbial communities engender shifts in microbial metabolite profiles. These in turn drive shifts in barrier surface permeability of the gut and brain and induce immune activation. When paired with preexisting age‐related chronic inflammation this increases the risk of neuroinflammation and neurodegenerative diseases.
Aaron Mehl, Eran Blacher
wiley   +1 more source

Global Search with Bernoulli Alternation Kernel for Task-oriented Grasping Informed by Simulation

, 2018
We develop an approach that benefits from large simulated datasets and takes full advantage of the limited online data that is most relevant. We propose a variant of Bayesian optimization that alternates between using informed and uninformed kernels ...
Antonova, Rika, Kokic, Mia, Kragic, Danica, Stork, Johannes A.   +3 more
core  

Novel bi-allelic DNAH3 variants cause oligoasthenoteratozoospermia

Frontiers in Endocrinology
BackgroundOligoasthenoteratozoospermia (OAT) is a widespread cause of male infertility. One of the usual clinical manifestations of OAT is multiple morphological abnormalities of the sperm flagella (MMAF), which are frequently associated with mutations and defects in the dynein family.
Shu Li, Zexin Zhang, Linna Xie, Linna Xie, Yanqiu Zhao, Hongtai Chen, Shijia Zhang, Yixiang Cai, Bingjie Ren, Wensheng Liu, Songxi Tang, Yanwei Sha, Yanwei Sha, Yanwei Sha   +13 more
openaire   +3 more sources

A methionine‐lined active site governs carbocation stabilization and product specificity in a bacterial terpene synthase

FEBS Letters, EarlyView.
This study reveals a unique active site enriched in methionine residues and demonstrates that these residues play a critical role by stabilizing carbocation intermediates through novel sulfur–cation interactions. Structure‐guided mutagenesis further revealed variants with significantly altered product profiles, enhancing pseudopterosin formation. These
Marion Ringel, Carl P. O. Helmer, Shani Zev, Ronja Driller, Emily Buhr, Markus Reinbold, Renana Schwartz, Gabriel Foley, Mikael Boden, Daniel Garbe, Gerhard Schenk, Dan Thomas Major, Bernhard Loll, Thomas Brück   +13 more
wiley   +1 more source

Valosin‐containing protein counteracts ATP‐driven dissolution of FUS condensates through its ATPase activity in vitro

FEBS Letters, EarlyView.
Biomolecular condensates formed by fused in sarcoma (FUS) are dissolved by high ATP concentrations yet persist in cells. Using a reconstituted system, we demonstrate that valosin‐containing protein (VCP), an AAA+ ATPase, counteracts ATP‐driven dissolution of FUS condensates through its D2 ATPase activity.
Hitomi Kimura, Shin‐ichi Tate, Kyota Yasuda   +2 more
wiley   +1 more source