Results 181 to 190 of about 1,594,903 (314)

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

mTORC1-signaling switches megalin function from endocytosis to cell cycle progression. [PDF]

Cell Mol Life Sci
Dahlke E, Kunke M, Knöfler H, Anan Y, Shen Y, Zhao D, von Toerne C, Theilig F.   +7 more
europepmc   +1 more source

Oxidative Phosphorylation [PDF]

Journal of Pharmacy and Pharmacology, 1959
openaire   +2 more sources

Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar, Jeremy Johnson, Susanne Watkins, Eoin Mulroy   +3 more
wiley   +1 more source

Phosphoproteomic analysis reveals differential associations between liver-spleen disharmony and qi-blood deficiency syndromes in chronic fatigue syndrome. [PDF]

J Transl Med
Zhang J, Tian Y, Sun G, Kang R, Guo D, Yin Y.   +5 more
europepmc   +1 more source

β‐Catenin/c‐Myc Axis Modulates Autophagy Response to Different Ammonia Concentrations

Advanced Biology, Volume 9, Issue 3, March 2025.
Ammonia, detoxified by the liver into urea and glutamine, impacts autophagy differently at varying levels. Low ammonia activates autophagy via c‐Myc and β‐catenin, while high levels suppress it. Using Huh7 cells and Spf‐ash mice, c‐Myc's role in cytoprotective autophagy is revealed, offering insights into hyperammonemia and potential therapeutic ...
S. Sergio, B. Spedicato, G. Corallo, A. Inguscio, M. Greco, D. Musarò, D. Vergara, A. F. Muro, G. De Sabbata, L. R. Soria, N. Brunetti Pierri, M. Maffia   +11 more
wiley   +1 more source

Multi-omic phenotyping of MAPT V337M neurons reveals early changes in axonogenesis and tau phosphorylation. [PDF]

NPJ Dement
Mohl GA, Dixon G, Marzette E, McKetney J, Samelson AJ, Serras CP, Jin J, Ariqat N, Keys A, Chavira C, Li A, Boggess SC, Swaney DL, Kampmann M.   +13 more
europepmc   +1 more source

Strategies for Loading and Releasing Peptide Therapeutics in Biodegradable Carriers

Advanced Functional Materials, EarlyView.
A biodegradable carrier‐based peptide delivery system is a powerful treatment platform for diverse diseases, owing to its superior therapeutic efficacy and low toxicity. This review examines the conventional peptide‐loaded carrier fabrication process and its current limitations.
Wookyoung Jang, Ki Wan Bong
wiley   +1 more source

Hypomagnetic Field Enhances U2OS Cell Proliferation and Migration by Promoting β-Catenin Phosphorylation and Upregulating FN1 and LOX Expression. [PDF]

Cells
Gao T, Zhong W, Tao M, Guo Y, Yang K, He Y, Hu G, Li L, Kong X, Li F, Zhao Y.   +10 more
europepmc   +1 more source

Nanodiamond Quantum Sensors for Probing Free Radical Biology

Advanced Functional Materials, EarlyView.
Free radicals play key roles in cellular signaling and disease but remain difficult to measure in living systems. Nanodiamonds (NDs) with nitrogen‐vacancy (NV) centers enable quantum sensing of local magnetic noise via T₁ relaxometry, providing nondestructive radical detection in living cells.
Qi Lu, Yingke Wu, Tanja Weil
wiley   +1 more source