Results 181 to 190 of about 84,505 (291)

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

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

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

Lack of SPNS1 results in accumulation of lysolipids and lysosomal storage disease in mouse models. [PDF]

JCI Insight
Ha HT, Liu S, Nguyen XT, Vo LK, Leong NC, Nguyen DT, Balamurugan S, Lim PY, Wu Y, Seong E, Nguyen TQ, Oh J, Wenk MR, Cazenave-Gassiot A, Yapici Z, Ong WY, Burmeister M, Nguyen LN.   +17 more
europepmc   +1 more source

Success of transition to adult care in patients with pediatric‐onset chronic liver disease

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objectives Previous studies on chronic pediatric‐onset conditions have highlighted the risks of loss to follow‐up, disease progression, or therapeutic nonadherence during transition. However, very few studies have focused on liver diseases.
Sarah Mongbo, Valérie Canva, Sébastien Dharancy, Guillaume Lassailly, Alexandre Louvet, Philippe Mathurin, Nassima Ramdane, Frédéric Gottrand, Madeleine Aumar   +8 more
wiley   +1 more source

Metabolic rewiring and autophagy inhibition correct lysosomal storage disease in mucopolysaccharidosis IIIB. [PDF]

iScience
Scarcella M, Scerra G, Ciampa M, Caterino M, Costanzo M, Rinaldi L, Feliciello A, Anzilotti S, Fiorentino C, Renna M, Ruoppolo M, Pavone LM, D'Agostino M, De Pasquale V.   +13 more
europepmc   +1 more source

miR‐9 Restricts Insulin Secretion by Targeting Rab34, Which Mediates Lysosomal Degradation of Proinsulin

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Insulin secretion is a complex, vesicular transport process. Rab34 is a key regulator of intracellular vesicle transport; however, its role in insulin secretion has not yet been reported. miRNA‐9 is vital for the development and progression of the diagnosis and treatment of type 2 diabetes. This study aimed to investigate whether miR‐9 targets
Zhen‐Zhen Guo, Ao‐Ying Li, Ting‐Ting Xiang, Zu‐Hao Zhang, Ao Deng, Yang Han   +5 more
wiley   +1 more source

Disruption of lysosomal nutrient sensing scaffold contributes to pathogenesis of a fatal neurodegenerative lysosomal storage disease. [PDF]

J Biol Chem
Bagh MB, Appu AP, Sadhukhan T, Mondal A, Plavelil N, Raghavankutty M, Supran AM, Sadhukhan S, Liu A, Mukherjee AB.   +9 more
europepmc   +1 more source

Lipid Antigen Presentation by CD1b and CD1d in Lysosomal Storage Disease Patients. [PDF]

Front Immunol, 2019
Pereira CS, Pérez-Cabezas B, Ribeiro H, Maia ML, Cardoso MT, Dias AF, Azevedo O, Ferreira MF, Garcia P, Rodrigues E, Castro-Chaves P, Martins E, Aguiar P, Pineda M, Amraoui Y, Fecarotta S, Leão-Teles E, Deng S, Savage PB, Macedo MF.   +19 more
europepmc   +1 more source

Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease [PDF]

, 2018
et al,, Jiang, Xuntian, Ory, Daniel S
core   +1 more source