Results 71 to 80 of about 147,751 (260)

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

Regulation of Luminal Acidification by the V-ATPase

Physiology, 2013
Specialized cells in the body express high levels of V-ATPase in their plasma membrane and respond to hormonal and nonhormonal cues to regulate extracellular acidification. Mutations in or loss of some V-ATPase subunits cause several disorders, including renal distal tubular acidosis and male infertility.
Sylvie, Breton, Dennis, Brown
openaire   +3 more sources

V-ATPase-Mediated Granular Acidification Is Regulated by the V-ATPase Accessory Subunit Ac45 in POMC-Producing Cells [PDF]

Molecular Biology of the Cell, 2010
The vacuolar (H+)-ATPase (V-ATPase) is an important proton pump, and multiple critical cell-biological processes depend on the proton gradient provided by the pump. Yet, the mechanism underlying the control of the V-ATPase is still elusive but has been hypothesized to involve an accessory subunit of the pump.
Jansen, E.J.S., Hafmans, T.G.M., Hafmans, T.G.M., Martens, G.J.M.   +3 more
openaire   +4 more sources

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +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

Immunohistochemical localization of V‐ATPases in rat spermatids [PDF]

International Journal of Andrology, 2000
The sperm acrosome exhibits a low pH. However, the mechanism of acidification in the acrosome remains unclear. Vacuolar‐type proton ATPase (V‐ATPase) has been shown to play a principle role in generating and maintaining the acidity of organelles such as lysosomes and endosomes.
G, Kawa, A, Yamamoto, T, Yoshimori, K, Muguruma, T, Matsuda, Y, Moriyama   +5 more
openaire   +2 more sources

Chemically Fueled Systems Chemistry Across Length Scales

Advanced Functional Materials, EarlyView.
Chemically fueled reaction cycles regulate processes through single and multiple catalytic sites on the molecular and assembly scale. This gives rise to unique kinetically controlled properties/functions like spatio‐temporal catalysis, oscillations, optical properties, and perform work.
Brigitte A. K. Kriebisch, Job Boekhoven
wiley   +1 more source

Engineering Nanoplatforms for Alzheimer's Disease Detection via Biomolecular Corona Proteomic and Lipidomic Profiling

Advanced Healthcare Materials, EarlyView.
Engineered nanoparticles capture disease‐specific biomolecular coronas that uncover hidden molecular features of Alzheimer's disease. Combined proteomic and lipidomic analyses reveal a characteristic shift in ribosomal machinery and energy metabolism, generating a multiomic fingerprint that supports accurate disease detection and opens new ...
Antonietta Greco, Roberto Baretta, Andrea Di Fonzo, Andrea Armirotti, Stefano Cinti, Mara Mirasoli, Marco Frasconi, Claudia Corbo   +7 more
wiley   +1 more source

Patient‐Derived 3D Heart‐On‐a‐Chip Model of Dilated Cardiomyopathy With Embedded Bead‐Based Mapping of Tissue Contractility

Advanced Healthcare Materials, EarlyView.
A heart‐on‐a‐chip model of dilated cardiomyopathy is developed from patient‐derived induced pluripotent stem cells. The model recapitulates key disease phenotypes and enables functional assessment through integrated bead‐based tracking and pillar deflection measurements.
Ali Mousavi, Ludovic Mouttet, Shihao Cui, Yasaman Hekmatnia, Mehran Mottahedi, Ida Derish, Naimeh Rafatian, Mark Aurousseau, Gregor Andelfinger, Renzo Cecere, Houman Savoji   +10 more
wiley   +1 more source

ABCG2/V-ATPase was associated with the drug resistance and tumor metastasis of esophageal squamous cancer cells

Diagnostic Pathology, 2012
Background ATP-binding cassette sub-family G member 2 (ABCG2) is a protein that in humans is encoded by the ABCG2 gene. ABCG2 participates in efflux of many chemotherapeutic agents.
Huang Lijun, Lu Qiang, Han Yong, Li Zhe, Zhang Zhipei, Li Xiaofei   +5 more
doaj   +1 more source