Results 151 to 160 of about 42,400 (289)

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 role of the host—Neutrophil biology

Periodontology 2000, EarlyView., 2023
Abstract Neutrophilic polymorphonuclear leukocytes (neutrophils) are myeloid cells packed with lysosomal granules (hence also called granulocytes) that contain a formidable antimicrobial arsenal. They are terminally differentiated cells that play a critical role in acute and chronic inflammation, as well as in the resolution of inflammation and wound ...
Iain L. C. Chapple, Josefine Hirschfeld, Alpdogan Kantarci, Asaf Wilensky, Lior Shapira   +4 more
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

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

Ginsenoside Rg1 Ameliorates LPS‐Induced Sepsis‐Associated Lung Injury in Mice via VEGFC/D‐VEGFR3 Signaling‐Mediated Lymphangiogenesis and Lymphatic Remodeling

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Sepsis‐induced acute lung injury (ALI) remains challenging to treat, with conventional anti‐inflammatory therapies offering limited efficacy. The lymphatic system is crucial for removing edema and inflammatory mediators, and its impairment can exacerbate lung injury.
He Wang, Lan Hu, Chun‐Pan Zhang, Wen‐Jie Qi, Yu‐Guo Song   +4 more
wiley   +1 more source

Lysosomal storage disorders

, 2019
Daniel Bell, Sepehr Haghighi, Tristan Skalina   +2 more
openaire   +2 more sources

Plasma Glucosylsphingosine in GBA1 E365K, N409S, and L483P Heterozygous Mutation Carriers

Movement Disorders, EarlyView.
Abstract Background GBA1 encodes the lysosomal enzyme glucocerebrosidase, with key substrates that include glucosylceramide and glucosylsphingosine. The E365K variant is the most common variant in GBA1 that is associated with Parkinson's disease (PD) but is not associated with Gaucher disease.
Julian Agin‐Liebes, Alexander Haimovich, Rachel Griep, Nathan Galen Hatcher, Lihang Yao, Cheryl Waters, Shalini Padmanabhan, Roy N. Alcalay   +7 more
wiley   +1 more source

Elevation of Stearoyl‐Coenzyme A Desaturase and Monounsaturated Fatty Acids in Parkinson's Disease Serum

Movement Disorders, EarlyView.
Abstract Background Emerging evidence indicates that dysregulation of monounsaturated fatty acids (MUFAs), synthesized by the enzyme stearoyl‐coenzyme A desaturase (SCD), impacts on α‐synuclein pathology in the Parkinson's disease (PD) brain. Objective The objective of this study was to analyze SCD and MUFA‐enriched lipids in the periphery of patients ...
Finula I. Isik, Russell Pickford, Michelle Chua, Simon J.G. Lewis, Nicolas Dzamko, Woojin Scott Kim   +5 more
wiley   +1 more source

Imaging manifestations in infantile GM1 gangliosidosis: a rare lysosomal storage disorder: a paediatric case report. [PDF]

BJR Case Rep
Bhat S, Sharma S, Bhat S, Kaul A.
europepmc   +1 more source