Results 51 to 60 of about 2,913,537 (285)

Distinct Mechanisms of Pathogenic DJ-1 Mutations in Mitochondrial Quality Control [PDF]

, 2018
The deglycase and chaperone protein DJ-1 is pivotal for cellular oxidative stress responses and mitochondrial quality control. Mutations in PARK7, encoding DJ-1, are associated with early-onset familial Parkinson’s disease and lead to pathological ...
Abeti, Abou-Sleiman, Adam-Vizi, Alexis A. Robinson, Ariga, Banerjee, Ben-Nissan, Blackinton, Boland, Bonifati, Bonifati, Brenner-Lavie, Campanella, Canet-Avilés, Cannon, Carlo Rodolfo, Caterina Ferraina, Chen, Daniela Strobbe, Dauer, Dias, Duchen, D’Autréaux, East, Gatliff, Georgakopoulos, Giaime, Giordano, Görner, Harvey, Hulleman, Junn, Kahle, Kim, Kirsten Harvey, Lakshminarasimhan, Lara Rossi, Lücking, Maita, Martinat, Martinez-Vicente, Matic, Michelangelo Campanella, Moscovitz, Muller, Murphy, Narendra, Niki, Olzmann, Ono, Onyango, Paisán-Ruíz, Pankratz, Parker, Parsanejad, Polymeropoulos, Robert J. Harvey, Schon, Shendelman, Shinbo, Taira, Takahashi, Takahashi-Niki, Valente, Valerio de Biase, Waak, Wang   +66 more
core   +3 more sources

Personalized Selumetinib Dosing in Pediatric Neurofibromatosis Type 1: Insights From a Pilot Therapeutic Drug Monitoring Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Objective To evaluate selumetinib exposure using therapeutic drug monitoring (TDM) in pediatric patients with neurofibromatosis type 1 (NF1) and plexiform neurofibromas (PN), assess interpatient pharmacokinetic variability, and explore the relationship between drug exposure, clinical response, and adverse effects.
Janka Kovács, Zoltán Köllő, Balázs Gellért Karvaly, Mahmoud Obeidat, Rita Nagy, Péter Hegyi, Brigitta Teutsch, Eszter Tuboly, Miklós Garami   +8 more
wiley   +1 more source

Secretion-Positive LGI1 Mutations Linked to Lateral Temporal Epilepsy Impair Binding to ADAM22 and ADAM23 Receptors [PDF]

, 2016
Autosomal dominant lateral temporal epilepsy (ADTLE) is a focal epilepsy syndrome caused by mutations in the LGI1 gene, which encodes a secreted protein.
Belluzzi, Elisa, Dazzo, Emanuela, Greggio, Elisa, Leonardi, Emanuela, Malacrida, Sandro, Nobile, Carlo, Tosatto, Silvio, Vitiello, Libero   +7 more
core   +3 more sources

Germline TP53 Mutations Causing Diamond–Blackfan Anemia: A French Report

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Diamond–Blackfan anemia is a rare congenital erythroblastopenia typically caused by mutations in ribosomal protein genes. Recently, gain‐of‐function mutations in TP53 have been identified as a novel cause of Diamond–Blackfan anemia. We report two French patients who both harbored a heterozygous TP53 deletion (NM_000546.5: c.1077delA; p ...
Rafael Moisan, Lydie Da Costa, Ludivine David Nguyen, Heloise Chosseler, Audrey Riquet, Benedicte Bruno, Melissa Barbati   +6 more
wiley   +1 more source

Dephosphorylation of the HIV-1 restriction factor SAMHD1 is mediated by PP2A-B55α holoenzymes during mitotic exit

Nature Communications, 2018
SAMHD1 is a critical restriction factor for HIV-1 and its antiviral activity is regulated by T592 phosphorylation. Here, Schott et al. show that the phosphatase PP2A-B55α dephosphorylates SAMHD1 during mitotic exit, rendering it antivirally active in G1 ...
Kerstin Schott, Nina V. Fuchs, Rita Derua, Bijan Mahboubi, Esther Schnellbächer, Janna Seifried, Christiane Tondera, Heike Schmitz, Caitlin Shepard, Alberto Brandariz-Nuñez, Felipe Diaz-Griffero, Andreas Reuter, Baek Kim, Veerle Janssens, Renate König   +14 more
doaj   +1 more source

Probing protein-protein interactions by dynamic force correlated spectroscopy (FCS)

, 2005
We develop a formalism for single molecule dynamic force spectroscopy to map the energy landscape of protein-protein complex ($P_1$$P_2$). The joint distribution $P(\tau_1,\tau_2)$ of unbinding lifetimes $\tau_1$ and $\tau_2$ measurable in a compression ...
A. Ashkin, D. Thirumalai, G. I. Bell, S. Shu, V. Barsegov   +4 more
core   +1 more source

STRING and STITCH: known and predicted interactions between proteins and chemicals [PDF]

, 2008
Information on protein-protein and protein-chemical interactions is essential for understanding cellular functions. The STRING and STITCH web resources integrate interaction evidence derived from pathways, automatic literature mining, primary ...
Christian von Mering, Lars J. Jensen, Manuel Stark, Michael Kuhn, Peer Bork, Samuel Chaffron   +5 more
core   +2 more sources

Two Faces of NOTCH1 in Childhood Lymphoblastic T‐Cell Neoplasia: Prognostic Divergence of Mutational and Structural Aberrations

Pediatric Blood &Cancer, EarlyView.
ABSTRACT In pediatric patients, T‐cell lymphoblastic lymphoma (T‐LBL) survival exceeds 80%. Relapse remains associated with limited curative options. Frontline treatment is largely extrapolated from T‐cell acute lymphoblastic leukemia (T‐ALL) treatment, reflecting the ongoing debate, whether both entities represent distinct diseases or variants within ...
Marie C. Heider, Amelie Alfert, Marc Hotfilder, Birgit Burkardt, Marcel te Vrugt   +4 more
wiley   +1 more source

Disposition of Federally Owned Surpluses [PDF]

, 1944
PDZ domains are scaffolding modules in protein-protein interactions that mediate numerous physiological functions by interacting canonically with the C-terminus or non-canonically with an internal motif of protein ligands. A conserved carboxylate-binding
A Bach, A Bach, A Bach, BA Appleton, BH Chang, BJ Hillier, BZ Harris, CN Chi, CN Chi, CN Chi, DA Doyle, E Chapman, E Kim, E Kim, ET Powers, FI Valiyaveetil, G Hultqvist, GM Elias, GS Beligere, H Remaut, H Tochio, H Tochio, HJ Lee, J Schultz, J Schultz, JA Wells, JF Amacher, JNN Eildal, JT Andreasen, JT Koh, KK Dev, KS Bateman, L Funke, M Aarts, M Sheng, M Vila-Perelló, MA Stiffler, MD Hill, MR Arkin, N Calosci, NX Wang, OA Karlsson, R Tonikian, RN McLaughlin Jr., S Deechongkit, S Seedorff, SH Gee, TW Muir, W Feng, Y Zhang, Z Songyang   +50 more
core   +2 more sources

Efficacy and Safety Analysis of Roxarestat in Regulating Renal Anemia in Patients on Maintenance Hemodialysis

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Objective To compare the efficacy and safety of roxarestat versus recombinant human erythropoietin (rhEPO) in the management of renal anemia in patients undergoing maintenance hemodialysis. Methods This was a prospective, open‐label, randomized controlled trial.
Lingling Chen, Junjie Zhu, Qiaonan Ge
wiley   +1 more source