Results 171 to 180 of about 27,697 (237)

Characterization of Dried Blood Spot Quality Control Materials for Lysosomal Enzyme Activity Assays Using Digital Microfluidic Fluorometry to Detect Lysosomal Storage Disorders in Newborns. [PDF]

Int J Neonatal Screen
Dantonio P, Klug T, Yazdanpanah G, Haynes C, Zhou H, Hopkins P, Vogt R, Lee R, Cuthbert C, Petritis K.   +9 more
europepmc   +1 more source

Amyloid‐β aggregates induce vasculopathy via ferroptosis in brain endothelial cells

Brain Pathology, EarlyView.
Blood–brain barrier (BBB) disruption is evident in brains with amyloidopathy. In this study, we demonstrate that amyloid β (Aβ) drives abnormal lipid metabolism and lipid droplet formation in brain endothelial cells, leading to lipid peroxidation and ferroptosis.
Suhyeon Son, Suji Kim, Min‐Tae Jeon, Moonseok Choi, Kyu‐Sung Kim, Suji Lee, Seung‐Yeol Nah, Do‐Geun Kim   +7 more
wiley   +1 more source

D1 dopamine receptor antagonists as a new therapeutic strategy to treat autistic-like behaviours in lysosomal storage disorders. [PDF]

Mol Psychiatry
De Risi M, Cusimano L, Bujanda Cundin X, Pizzo M, Gigante Y, Monaco M, Di Eugenio C, De Leonibus E.   +7 more
europepmc   +1 more source

TrkA abundance is increased in cutaneous nerves in bortezomib‐induced neuropathy

Brain Pathology, EarlyView.
Cutaneous nerves in bortezomib‐induced peripheral neuropathy (BIPN) show reduced nerve fiber density, increased TrkA expression, and enhanced dermal angiogenesis, highlighting a pathological switch in NGF/TrkA signaling that may contribute to nerve damage and pain. Abstract Tropomyosin receptor kinase A (TrkA), a high‐affinity receptor for nerve growth
Yuying Jin, Nadine Cebulla, Daniel Schirmer, Eva Runau, Leon Flamm, Calvin Terhorst, Laura Jähnel, Johanna Güse, Nicola Giordani, Annett Wieser, Julian Brennecke, Annemarie Sodmann, Martin Kortüm, Robert Blum, Claudia Sommer   +14 more
wiley   +1 more source

Drug Repurposing and Lysosomal Storage Disorders: A Trick to Treat. [PDF]

Genes (Basel)
Hay Mele B, Rossetti F, Cubellis MV, Monticelli M, Andreotti G.   +4 more
europepmc   +1 more source

The DNA/RNA autophagy protein SIDT2 as a novel neuropathological hallmark in Huntington disease

Brain Pathology, EarlyView.
SIDT2‐immunoreactive inclusions are observed in the striatum, cerebral cortex, and hypothalamus in HD cases with different Vonsattel grades, and the frequency of SIDT2‐immunoreactive inclusions is associated with longer CAG repeats in the huntingtin gene.
Sanaz Gabery, Sofia Bergh, Chrisovalantou Huridou, Rachel Y. Cheong, Barbara Baldo, Paul Günther Scheunemann, Marie‐Louisa Schoebel, Linda Holmquist Mengelbier, Elisabet Englund, Catriona McLean, Carsten Saft, Deniz Kirik, Maria Björkqvist, Glenda Halliday, Elisabeth Petrasch‐Parwez, Huu Phuc Nguyen, Jonasz Jeremiasz Weber, Åsa Petersén   +17 more
wiley   +1 more source

Engineering memory T cells as a platform for long-term enzyme replacement therapy in lysosomal storage disorders. [PDF]

Mol Ther
Kleinboehl EW, Laoharawee K, Jensen JD, Peterson JJ, Slipek NJ, Wick BJ, Johnson MJ, Webber BR, Moriarity BS.   +8 more
europepmc   +1 more source

Songorine inhibits mitophagy in chronic heart failure via the TBC1D15/Fis1/Rab7A pathway

British Journal of Pharmacology, EarlyView.
Abstract Background and purpose Songorine (SGR) is an alkaloid extracted from Aconitum carichaelii Debx. and has a demonstrated role in cardiac dysfunction. Chronic heart failure (CHF) is a severe clinical syndrome leading to functional impairment and death, primarily due to the deterioration of energy metabolism in cardiomyocytes. However, the precise
Wenxiu Liu, Xingju Zou, Yang Zheng, Chen Sun, Cheng Peng   +4 more
wiley   +1 more source

Assessment of the reliability, responsiveness, and meaningfulness of the scale for the assessment and rating of ataxia (SARA) for lysosomal storage disorders. [PDF]

J Neurol
Park J, Bremova-Ertl T, Brands M, Foltan T, Gautschi M, Gissen P, Hahn A, Jones S, Arash-Kaps L, Kolnikova M, Patterson M, Perlman S, Ramaswami U, Reichmannová S, Rohrbach M, Schneider SA, Shaikh A, Sivananthan S, Synofzik M, Walterfarng M, Wibawa P, Martakis K, Manto M.   +22 more
europepmc   +1 more source

Cannabidiol and cannabigerol ameliorate steatotic liver disease via phosphocreatine buffering and lysosomal restoration

British Journal of Pharmacology, EarlyView.
Cannabidiol (CBD) and cannabigerol (CBG) alleviate hepatic steatosis in obese mice by shifting energy buffering towards phosphocreatine and enhancing lysosomal lipid degradation and trafficking. These effects are associated with increased creatine kinase activity and lysobisphosphatidic acid (LBPA) levels, highlighting a previously unrecognised ...
Radka Kočvarová, Shahar Azar, Bella Agranovich, Ifat Abramovich, Saveliy Kirillov, Alina Nemirovski, Saja Baraghithy, Inbar Plaschkes, Emmanuelle Merquiol, Alexander Rouvinski, Galia Blum, Liad Hinden, Joseph Tam   +12 more
wiley   +1 more source