Results 201 to 210 of about 2,687,044 (278)

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

The Unmet Needs of Lysosomal Storage Disorders from Early Diagnosis to Caregiving Pathways: An Italian Perspective. [PDF]

J Clin Med
Castaman G, Linari S, Barbato A, Costantino N, Dionisi-Vici C, Menni F, Procopio E, Ramat S, Torquati F, Verrecchia E, Scarpa M.   +10 more
europepmc   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

STING mediates lysosomal quality control and recovery through its proton channel function and TFEB activation in lysosomal storage disorders. [PDF]

Mol Cell
Tang Z, Xing C, Araszkiewicz A, Yang K, Huai W, Jeltema D, Dobbs N, Zhang Y, Sun LO, Yan N.   +9 more
europepmc   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 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

Altered gene expression in the liver and small intestine of horses with equine neuroaxonal dystrophy

Equine Veterinary Journal, EarlyView.
Abstract Background Equine neuroaxonal dystrophy/degenerative myeloencephalopathy (eNAD/EDM) is the second most common diagnosis of spinal ataxia in horses in the United States. The disease develops due to a combination of vitamin E deficiency and an unknown genetic risk factor(s), and there currently is no effective treatment.
Stephanie Ryan, Blythe Durbin‐Johnson, Kevin Woolard, Andrew D. Miller, Carrie J. Finno   +4 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

Engineering mRNA‐LNP Medicines for the Ageing Brain: Opportunities and Challenges for Neurodegenerative Diseases

Exploration, EarlyView.
This review highlights recent advances in engineering messenger RNA (mRNA)‐lipid nanoparticles (LNPs) to cross the ageing blood–brain barrier and target neurodegenerative diseases. It outlines design principles, delivery routes, and translational challenges, charting a roadmap towards clinical application of mRNA‐LNP therapeutics for neurodegenerative ...
Abdel Ali Belaidi, Denzil L. Furtado, Francesca Alves, Rebecca M. Nisbet, Scott Ayton, Ashley I. Bush   +5 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