Results 111 to 120 of about 37,714 (305)

pH‐mediated activation of the lysosomal arginine sensor SLC38A9

FEBS Letters, EarlyView.
Cells monitor nutrient levels via the lysosomal transporter SLC38A9 to activate the mechanistic target of rapamycin complex 1 (mTORC1). This study reveals that SLC38A9 function is regulated by pH. We identified histidine 544 as a critical pH sensor that undergoes conformational changes to control amino acid efflux from lysosomes; therefore, it ...
Xuelang Mu, Ampon Sae Her, Tamir Gonen
wiley   +1 more source

Respiratory Involvement in Patients with Neuromuscular Diseases: A Narrative Review

Pulmonary Medicine, 2019
Respiratory muscle weakness is a major cause of morbidity and mortality in patients with neuromuscular diseases (NMDs). Respiratory involvement in NMDs can manifest broadly, ranging from milder insufficiency that may affect only sleep initially to severe
Athanasios Voulgaris, Maria Antoniadou, Michalis Agrafiotis, Paschalis Steiropoulos   +3 more
doaj   +1 more source

Apparent Superluminal Muon-neutrino Velocity as a Manifestation of Weak Value

, 2011
5 pages, no ...
openaire   +2 more sources

Evaluation of Skeletal Muscle with Thallium-201 Scintigraphy in Myotonic Muscular Dystrophy: A Case Report [PDF]

, 1987
1987-03A case of myotonic muscular dystrophy in which thallium-20l showed dystrophic change of skeletal muscle is described. After i.v. injection of 2 mCi of thallium-201, the patient's whole body scintigram was reconstructed by taking the geometric mean
YAMAMOTO, SHUHEI
core   +1 more source

Degradation mechanism of the von Willebrand factor A2 domain by nattokinase

FEBS Letters, EarlyView.
Nattokinase, a natto‐derived protease, exhibits potent antithrombotic effects. This study demonstrates that nattokinase directly cleaves the von Willebrand factor (vWF) A2 domain in vitro. Unlike the native regulator ADAMTS13, nattokinase degrades folded vWF independently of shear stress.
Ryuichi Hyakumoto, Masatomo So, Ayako Furukawa, Kenji Sugase   +3 more
wiley   +1 more source

Clinical, immunohistochemical, and genetic characterization of splice-altering biallelic DES variants: Therapeutic implications

HGG Advances
Summary: Pathogenic variants in the DES gene clinically manifest as progressive skeletal muscle weakness, cardiomyopathy with associated severe arrhythmias, and respiratory insufficiency, and are collectively known as desminopathies.
Janelle Geist Hauserman, Chamindra G. Laverty, Sandra Donkervoort, Ying Hu, Sarah Silverstein, Sarah B. Neuhaus, Dimah Saade, Gabrielle Vaughn, Denise Malicki, Rupleen Kaur, Yuesheng Li, Yan Luo, Poching Liu, Patrick Burr, A. Reghan Foley, Payam Mohassel, Carsten G. Bönnemann   +16 more
doaj   +1 more source

Exertional Weakness Seen as An Important Clinical Manifestation in Female Carriers of Duchenne Muscular Dystrophy

Journal of Clinical Medical Research, 2023
Introduction: Duchenne Muscular Dystrophy is an X-linked recessive condition caused by dystrophin mutations. Case Presentation: Three unrelated women who were carrying a pathogenic dystrophin mutation were evaluated with clinical, laboratory, electrophysiological, and genetic testing.
openaire   +1 more source

West Nile virus neuroinvasive disease presenting with acute flaccid paralysis and bilateral sensorineural hearing loss [PDF]

, 2011
West Nile virus (WNV), is an emerging virus. Most human infections are subclinical or manifest as a mild febrile illness, while fewer than 1% develop a neuroinvasive disease (WNND), including meningitis, encephalitis, and/or an acute flaccid paralysis ...
Bovo R., Ciorba A, Casetta I, Cesnik E, Tugnoli V, TREVISI, PATRIZIA   +5 more
core   +1 more source

Modulation of Homer1 EVH1 domain internal dynamics by putative autism‐associated mutations

FEBS Letters, EarlyView.
The putative autism‐associated M65I and S97L variants of the EVH1 domain of the postsynaptic scaffold protein Homer1 do not exhibit substantial changes in their overall structure or partner binding. Both of them, but especially the M65I variant, show altered internal dynamics relative to the wild‐type domain on the μs‐ms timescale, indicated by the ...
Fanni Farkas, Brigitta Maruzs, Zsófia E. Kálmán, Tomas Klumpler, Gyula Batta, Bálint Péterfia, Zoltán Gáspári   +6 more
wiley   +1 more source

Challenges in applying theoretical knowledge from the general medicine course in clinical practice: A qualitative study

Journal of Medical Education Development
Background & Objective: Clinical education stands as a critical domain for enhancing clinical skills. Evolving global demands, marked by an information explosion and dynamic shifts in disease patterns, coupled with deficiencies in clinical training and ...
Milad Safari, Shahrzad Shahidi, Maryam Avizhgan   +2 more
doaj   +1 more source