Results 181 to 190 of about 928,578 (204)

Unraveling in vitro phase separation and aggregation properties of the structured region of FMRP and the impact of Fragile X syndrome‐linked mutations

open access: yesThe FEBS Journal, EarlyView.
Fragile X messenger ribonucleoprotein 1 (FMRP) is a multidomain RNA‐binding protein associated with Fragile X Syndrome (FXS). We found that its N‐terminal structured region has an intrinsic propensity to undergo liquid–liquid phase separation and fibril formation. FXS‐associated mutations perturb protein stability and aggregation propensity, suggesting
Flavia Catalano   +10 more
wiley   +1 more source

Constrictions and shear stress are key determinants of amyloidogenic light chain (AL) amyloidosis

open access: yesThe FEBS Journal, EarlyView.
In this study, we investigate how flow constrictions and shear stress trigger cardiac antibody light chain (AL) fibril formation and deposition. We mimic the mechanical forces exerted by the heart and the microvasculature network using a mini‐peristaltic pump setup and a grid‐type microchannel network, respectively.
Yuji Goto   +11 more
wiley   +1 more source

Newly identified human aminoacyl‐tRNA synthetase complex interacting multifunctional protein 2 (AIMP2) loss‐of‐function mutations cause neurodevelopmental defects linked to cell death in a zebrafish model

open access: yesThe FEBS Journal, EarlyView.
Human AIMP2 mutations lead to severe neurodevelopmental defects and brain atrophy. Using patient‐derived fibroblasts from two individuals, we show decreased AIMP2 protein levels and overall protein synthesis. In a zebrafish loss‐of‐function model, the lack of AIMP2 leads to an increase in cell death and results in smaller brains.
Patrick Mullen   +10 more
wiley   +1 more source

The MacBrain Resource Center (MBRC) rhesus macaque postnatal brain histology datasets: Enabling new discoveries through NHP tissue and digital data Repositories

open access: yesJournal of Anatomy, EarlyView.
The MacBrain Resource Center (MBRC) postnatal rhesus macaque brain histology datasets are organized into Collections that promote cost‐effective de novo research. This article provides examples from Collections 5, 6, and 7 and describes the histo‐ and immunohistochemical (IHC) processing of materials for Collection 6.
Valeria Mendoza‐Silva   +19 more
wiley   +1 more source

Salivary Viscosity as a Non‐Invasive Candidate Biomarker Associated With Aspiration Risk in Oculopharyngeal Muscular Dystrophy

open access: yesJournal of Oral Rehabilitation, EarlyView.
Patients with oculopharyngeal muscular dystrophy exhibit disease‐specific salivary hyperviscosity that tracks with dysphagia severity and airway invasion. Non‐invasive chairside screening of salivary viscosity may enable clinicians to stratify aspiration risk during routine care to prevent severe pulmonary complications.
Alex Zvulunov   +9 more
wiley   +1 more source

The Yeast Pif1 Helicase Prevents Genomic Instability Caused by G-Quadruplex-Forming CEB1 Sequences In Vivo

PLoS Genetics, 2009
Jean-Baptiste Boulé   +2 more
exaly  

Structure and Conformational Dynamics of a Stacked Dimeric G-Quadruplex Formed by the Human CEB1 Minisatellite

Journal of the American Chemical Society, 2014
Anh Tuan Phan   +2 more
exaly  

Meiotic Recombination and Flanking Marker Exchange at the Highly Unstable Human Minisatellite CEB1 (D2S90)

American Journal of Human Genetics, 2000
Jérôme Buard   +2 more
exaly  

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