Results 151 to 160 of about 2,797,849 (300)

A novel SLC20A2 nonsense variant and mechanistic studies of primary brain calcification. [PDF]

PLoS One
Li Y, Yuan L, Chen H, Zheng W, Xu H, Yang Z, He D, Deng H.   +7 more
europepmc   +1 more source

The ubiquitin ligase RNF115 is required for the clearance of damaged lysosomes

FEBS Letters, EarlyView.
Upon lysosomal rupture, an E3 ubiquitin ligase RNF115 translocates from the cytosol to the damaged lysosomal membrane. Moreover, RNF115 depletion impairs the clearance of damaged lysosomes, identifying it as a key regulator of lysosomal quality control.
Sae Nakanaga, Toshiki Takahashi, Akiko Kuma, Hiroyuki Kawahara   +3 more
wiley   +1 more source

Two Cases of Hereditary Paraganglioma-Pheochromocytoma Syndrome in Siblings, Caused by a Novel Succinate Dehydrogenase Complex Subunit D Variant. [PDF]

IJU Case Rep
Nakamura R, Yamamoto Y, Kato T, Mukai K, Nomura M, Nojima S, Hatano K, Kakuta Y, Kawashima A, Nonomura N.   +9 more
europepmc   +1 more source

Organizing the interface—Plasma membrane architecture and receptor dynamics in virus‐cell interactions

FEBS Letters, EarlyView.
Plasma membranes contain dynamic nanoscale domains that organize lipids and receptors. Because viruses operate at similar scales, this architecture shapes early infection steps, including attachment, receptor engagement, and entry. Using influenza A virus and HIV‐1 as examples, we highlight how receptor nanoclusters, multivalent glycan interactions ...
Jan Schlegel, Christian Sieben
wiley   +1 more source

ClinGen API platform for classification of human genetic variants. [PDF]

Cell Genom
Shah N, Farris T, Zuniga AA, Jackson AR, Arce J, Riehle K, Preston CG, Mandell ME, Wulf B, Cheung G, Yu K, Ritter DI, Jevtic D, Milinkov M, Martinovic N, Vucinic N, Mihajlovic A, Rubin AF, Cline MS, Distefano M, Griffith M, Griffith OL, Wright MW, Klein TE, Plon SE, Milosavljevic A.   +25 more
europepmc   +1 more source

AAA+ protein unfoldases—the Moirai of the proteome

FEBS Letters, EarlyView.
AAA+ unfoldases are essential molecular motors that power protein degradation and disaggregation. This review integrates recent cryo‐electron microscopy (cryo‐EM) structures and single‐molecule biophysical data to reconcile competing models of substrate translocation.
Stavros Azinas, Marta Carroni
wiley   +1 more source

pH‐mediated activation of the lysosomal arginine sensor SLC38A9

FEBS Letters, EarlyView.
Cells monitor nutrient levels via the lysosomal transporter SLC38A9 to activate the mechanistic target of rapamycin complex 1 (mTORC1). This study reveals that SLC38A9 function is regulated by pH. We identified histidine 544 as a critical pH sensor that undergoes conformational changes to control amino acid efflux from lysosomes; therefore, it ...
Xuelang Mu, Ampon Sae Her, Tamir Gonen
wiley   +1 more source

Prinzmetal's Variant Angina [PDF]

Circulation, 1974
openaire   +3 more sources

Transcriptional network analysis of PTEN‐protein‐deficient prostate tumors reveals robust stromal reprogramming and signs of senescent paracrine communication

Molecular Oncology, EarlyView.
Combining PTEN protein assessment and transcriptomic profiling of prostate tumors, we uncovered a network enriched in senescence and extracellular matrix (ECM) programs associated with PTEN loss and conserved in a mouse model. We show that PTEN‐deficient cells trigger paracrine remodeling of the surrounding stroma and this information could help ...
Ivana Rondon‐Lorefice, Jose I. Lopez, Aitziber Ugalde‐Olano, Maite Zufiaurre, Ianire Astobiza, Natalia Martin‐Martin, Laura Bozal‐Basterra, Saioa Garcia‐Longarte, Amaia Zabala‐Letona, Sofia Rey, Aida Santos‐Martin, Miguel Unda, Ana Loizaga‐Iriarte, Mariona Graupera, Paolo Nuciforo, Arkaitz Carracedo, Isabel Mendizabal   +16 more
wiley   +1 more source

igv-reports: embedding interactive genomic visualizations in HTML reports to aid variant review. [PDF]

Bioinformatics
Robinson JT, Thorvaldsdottir H, Mesirov JP.   +2 more
europepmc   +1 more source