Results 231 to 240 of about 480,980 (318)

Hypokalemic Periodic Paralysis Associated With a Rare <i>CACNA1S</i> Variant (p.Leu1243Val): Expanding the Mutational Spectrum. [PDF]

Case Rep Genet
Nader MA.
europepmc   +1 more source

Autophagosome marker, LC3, is released extracellularly via several distinct pathways

FEBS Open Bio, EarlyView.
This study establishes a novel HiBiT‐tagging system for ultrasensitive detection of LC3, revealing multiple pathways for its extracellular secretion. It demonstrates that LC3 is released via both autophagy‐dependent and ‐independent mechanisms, including a novel route for nonlipidated LC3‐I.
Koki Saito, Masashi Arakawa, Koki Maeda, Eiji Morita   +3 more
wiley   +1 more source

Modelling the Transference of Paediatric Patients with Inborn Errors of Metabolism to Adult Hospitals: Clinical Experience. [PDF]

J Clin Med
Deudero A, Lasheras E, Ventura R, Montserrat-Carbonell C, Milisenda JC, Juliá-Palacios N, Matas A, Forga-Visa MT, López-Galera RM, García-Villoria J, Placeres M, Pané A, Garrabou G, Ribes A, Cardellach F, Moreno-Lozano PJ, Garcia-Cazorla À, Campistol J, Iem-Sjd-Hcb Consortia.   +18 more
europepmc   +1 more source

Hands‐on protocol for preparing water‐soluble fractions from agri‐food samples for NMR‐based metabolomics analysis

FEBS Open Bio, EarlyView.
This research protocol outlines a workflow for nuclear magnetic resonance (NMR)‐based metabolomics in the agri‐food sector. Using two case studies—strawberry leaves (solid matrix) and wine (liquid matrix)—it details the procedures for sample preparation, data acquisition, and processing.
Andrea Fernández‐Veloso, Jaime Hiniesta‐Valero, Alejandra Guerra‐Castellano, Miguel A. De la Rosa, Irene Díaz‐Moreno   +4 more
wiley   +1 more source

The nature of mutation: a legacy of bacterial genetics. [PDF]

Genetics
Lovett ST, Sass TH.
europepmc   +1 more source

DDX3X induces mesenchymal transition of endothelial cells by disrupting BMPR2 signaling

FEBS Open Bio, EarlyView.
Elevated DDX3X expression led to downregulation of BMPR2, a key regulator of endothelial homeostasis and function. Our co‐immunoprecipitation assays further demonstrated a molecular interaction between DDX3X and BMPR2. Notably, DDX3X promoted lysosomal degradation of BMPR2, thereby impairing its downstream signaling and facilitating endothelial‐to ...
Yu Zhang, Jing Wang, De‐Hui Qian, Yang‐Fan Lv, Tian‐Le Cheng, Da‐Peng Wang, Jing Zhang, Ye Fan   +7 more
wiley   +1 more source

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276

FEBS Open Bio, EarlyView.
Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig, Swanhild Lohse, Sara Elahi, Nils Hartmann, Stefanie Deckert, Shutian Si, Alexander Desuki, Anja Harder   +7 more
wiley   +1 more source

Developing a National Network for Leukodystrophy Research and Care in Canada: The CARELeuko Initiative. [PDF]

Neurol Genet
Chapleau A, Le A, Simo J, Venkateswaran S, Lacaze-Masmonteil T, Piscopo VEC, Gauthier S, Villa Tobón F, Alam SS, Lentini L, Brais B, Ernst C, Mitchell JJ, Vinh DC, Zhou Y, Kennedy TE, Goloff N, Riham B, Chapleau R, Smith B, Greger V, Della Rocca J, Louis LM, Dike A, McIntyre LL, McIntyre DF, Tardif J, Lapointe É, Barnett J, Loignon V, Bardai G, Contant S, Durcan TM, La Piana R, Bernard G, as RareKids-CAN, RARE.Qc, CARELeuko.   +37 more
europepmc   +1 more source

Raman‐based label‐free microscopic analysis of the pancreas in living zebrafish larvae

FEBS Open Bio, EarlyView.
Forward stimulated Raman scattering (F‐SRS) and epi coherent anti‐Stokes Raman scattering (E‐CARS) allow label‐free discrimination of distinct subcellular structures in the pancreas of living zebrafish larvae. Given the straightforward applicability, we anticipate broad implementation of Raman microscopy in other organs and across various biomedical ...
Noura Faraj, Eline M. F. de Lange, Klaas A. Sjollema, Ben N. G. Giepmans   +3 more
wiley   +1 more source

SIRT4 positively regulates autophagy via ULK1, but independently of HDAC6 and OPA1

FEBS Open Bio, EarlyView.
Cells expressing SIRT4 (H161Y), a catalytically inactive mutant of the sirtuin SIRT4, fail to upregulate LC3B‐II and exhibit a reduced autophagic flux under stress conditions. Interestingly, SIRT4(H161Y) promotes phosphorylation of ULK1 at S638 and S758 that are associated with inhibition of autophagy initiation.
Isabell Lehmkuhl, Khawar Amin, Lydia Gabriel, Nils Hampel, Afshin Iram, Julia Hesse, Constanze Wiek, Jasmin Thuy Vy Nguyen, Helmut Hanenberg, Jürgen Scheller, M. Reza Ahmadian, Björn Stork, Doreen M. Floss, Roland P. Piekorz   +13 more
wiley   +1 more source