Results 221 to 230 of about 25,002 (280)

Development of Dried Blood Spot Proficiency Testing Materials for Newborn Screening of Lysosomal Diseases Using Recombinant Enzymes. [PDF]

Int J Neonatal Screen
Courtney E, Isenberg SL, Lim T, Pickens CA, Lee R, Cuthbert C, Petritis K.   +6 more
europepmc   +1 more source

A high‐fat, high‐sucrose diet exacerbates muscle and metabolic pathology and undermines glucocorticoid efficacy in dystrophin‐deficient mice

The Journal of Physiology, EarlyView.
Abstract figure legend A high‐fat, high‐sucrose diet (HFHSD) exacerbated muscle and metabolic dysregulation in mdx mice while also altering the physiological response to prednisolone (Pred) In diaphragms of control diet (CD)‐fed mdx mice, prednisolone treatment improved muscle function and reduced fibrosis, inflammatory signalling, and mitochondrial ...
Morgan E. Vorwald, Swathy Krishna, Ji Heun Lee, Melissa Roths, Rudy J. Valentine, Joshua T. Selsby   +5 more
wiley   +1 more source

Treating age‐related loss of muscle mass and function: Where should we be focusing?

The Journal of Physiology, EarlyView.
Abstract figure legend Perturbations contributing to the age‐related loss of muscle mass and strength. A, in the spinal cord, self‐reinforcing cycles of oxidative stress, mitochondrial dysfunction and inflammation mediated by cells, including microglia, contribute to motor neuron degeneration.
Daniel J. Ham, Christopher S. Fry, Avnika Ashok Ruparelia, Shyuan T. Ngo, Séverine Lamon   +4 more
wiley   +1 more source

A Quarter Century of EHD Protein Research: From Endosomal Recycling to Ciliopathies

Traffic, Volume 27, Issue 3, September 2026.
Human EHD protein subcellular localization. ABSTRACT Eps15 homology domain‐containing proteins comprise a conserved family of membrane‐remodeling ATPases that regulate endocytic trafficking, membrane fission, receptor recycling, primary ciliogenesis and membrane dynamics across eukaryotes. Since the initial identification of EHD1 and its Caenorhabditis
Devin Frisby, Gunjan Misri, Naava Naslavsky, Steve Caplan   +3 more
wiley   +1 more source

Identification of novel compound heterozygous mutations in the GLB1 gene by whole-exome sequencing in a case of infantile GM1 gangliosidosis: a case report. [PDF]

Front Pediatr
Zhong G, Wang K, Liao K, Xie Q, Chen J, Yu R.   +5 more
europepmc   +1 more source

Alzheimer's Protection by PLCγ2 Compacts Plaques, Redistributes Microglia, and Protects Synapses in AppNL‐G‐F Mice

Glia, Volume 74, Issue 8, August 2026.
The Alzheimer's disease protective PLCG2 P522R variant protects against amyloid‐induced synapse loss independently of amyloid load, promotes increased plaque compaction, and is associated with enhanced microglial engagement with diffuse amyloid. ABSTRACT The Alzheimer's disease protective P522R PLCG2 coding variant (rs72824905) is downstream of TREM2 ...
Ryan J. Bevan, Emily Maguire, Eilish Mackinnon, Elisa Salis, Thomas Phillips, Elena Simonazzi, Marieta Vassileva, Nicholas D. Allen, Julie Williams, Philip R. Taylor   +9 more
wiley   +1 more source

A Rare Case of Cutaneous Crystal‐Storing Histiocytosis With Kappa Light Chain Restriction and Unusual BCL6 Expression

Journal of Cutaneous Pathology, Volume 53, Issue 8, Page 682-686, August 2026.
ABSTRACT Crystal‐storing histiocytosis (CSH) is a rare histopathologic phenomenon characterized by the accumulation of crystalline material within histiocytes, most often associated with lymphoplasmacytic or plasma cell neoplasms. Cutaneous involvement is uncommon and may present diagnostic challenges.
Liangli Wang, Jonathan L. Curry, Julia Dai, Daniel H. Wang, Paolo Strati, Melody R. Becnel, Leomar Y. Ballester, Carlos A. Torres‐Cabala, Phyu P. Aung   +8 more
wiley   +1 more source

Molecular, Metabolic and Inflammatory Patterns Involved in Pathogenesis of Anderson-Fabry Disease. [PDF]

Cells
Simonetta I, Baglio I, Tuttolomondo A.
europepmc   +1 more source

Contrast Agents for Enhanced Bioimaging: A Comprehensive Review

ChemBioChem, Volume 27, Issue 13, 14 July 2026.
Contrast agents, especially those that are nanoparticle‐based, are revolutionizing bioimaging by enabling highly sensitive, specific, and early‐stage diagnosis of diseases like cancer, using clinical imaging modalities such as CT, MRI, PET, and SPECT.
Paulo Sérgio Taube, Donald Fernandes, Arthur Abinader Vasconcelos, Hugo de Campos Braga, Alan Kelbis Oliveira Lima, José Arnaldo Santana Costa, Karla Furtado Andriani, Ester da Cunha Meira Santos, Antonio Jorge Silva Araújo Junior, Hauster Maximiler Campos de Paula, Wallace Júnio Reis, Kashif Gul, Nida Wahab, Luis Carlos Resio, Elisa Kawana Leal dos Santos, Márcio Peres de Araujo, Matheus Allen P. da Silva, Juliana Paula da Silva   +17 more
wiley   +1 more source