Results 191 to 200 of about 275,929 (264)

Effects of proximal tubule NBCe1-A deletion on collecting duct intercalated cell responses to hypokalemia. [PDF]

Am J Physiol Renal Physiol
Lee HW, Harris AN, Wall SM, Weiner ID.
europepmc   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

Targeting lysosomal pH restores mitochondrial quality control in GBA1-mutant Parkinson's disease. [PDF]

Transl Neurodegener
Sheshadri P, Costa-Besada MA, Fisher A, Kiraly S, Singh K, Kourouzidou I, Blacker TS, Zeng J, Shirihai OS, Grinstaff MW, Duchen MR.   +10 more
europepmc   +1 more source

SPG4 Hereditary Spastic Paraplegia: From Etiology to Therapy

Movement Disorders, EarlyView.
Abstract Hereditary spastic paraplegias (HSPs) comprise a heterogeneous group of heritable neurodegenerative disorders resulting from mutations in a wide variety of genes. HSP locomotor symptoms include lower limb weakness and spasticity that arise from progressive degeneration of corticospinal axons projecting from the motor cortex to the distal ...
Emanuela Piermarini, Peter W. Baas
wiley   +1 more source

Retraction: Constraints on the evolution of toxin-resistant Na,K-ATPases have limited dependence on sequence divergence. [PDF]

PLoS Genet
PLOS Genetics Editors.
europepmc   +1 more source

Hsp90 Inhibition on the Western Blot: N‐Terminal Versus C‐Terminal Inhibitors in Breast Cancer

Medicinal Research Reviews, EarlyView.
ABSTRACT Heat shock protein 90 (Hsp90) is an established and clinically validated anticancer target. By regulating the folding and maturation of diverse client proteins, it is indirectly involved in carcinogenesis. Key breast cancer oncogenic drivers, including estrogen receptor, progesterone receptor, and human epidermal growth factor receptor 2, are ...
Jaka Dernovšek, Jernej Cingl, Urša Pečar Fonović, Tihomir Tomašič   +3 more
wiley   +1 more source

NAMPT Deficiency Promotes Endothelial-Mesenchymal Transition by Inhibiting Energy Metabolism and Lysosomal Acidification in Late-Onset Fuchs Endothelial Corneal Dystrophy. [PDF]

Invest Ophthalmol Vis Sci
Xie L, Chen M, Wu J, Li Z, Guo R, Yu H, Li X, Wang Q, Liu F, Wang J, Wang L.   +10 more
europepmc   +1 more source

Senotherapeutics for Knee Osteoarthritis

Medicinal Research Reviews, EarlyView.
ABSTRACT Osteoarthritis (OA) is a chronic disease that imposes a significant economic burden and deteriorates quality of life. Nevertheless, current therapeutic options for OA are limited to symptomatic remedies. As such, there is a high interest in novel methods for treating or preventing OA.
Ezgi Duman, Girish Pattappa, Patrick Pann, Stephan Reppenhagen, Maximilian Rudert, Peter Angele, Denitsa Docheva   +6 more
wiley   +1 more source

Insights into the function and structure of the R2TP (RUVBL1-RUVBL2-RPAP3-PIH1D1) chaperone complex. [PDF]

Cell Stress Chaperones
Mohamed M, Wu R, Houry WA.
europepmc   +1 more source

Beyond Bioenergetics: Moonlighting Functions of F1FO‐ATPase From ATP Synthesis to an ATP‐Wasting Death Switch

Medicinal Research Reviews, EarlyView.
ABSTRACT Mitochondrial F1FO‐ATPase is classically viewed as the “splendid” rotary nanomachine that sustains life by converting the proton‐motive force (pmf) into ATP. Yet this same complex can adopt a second, context‐dependent function that links bioenergetics to cell fate.
Salvatore Nesci
wiley   +1 more source