Results 51 to 60 of about 36,696 (264)

GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease

Annals of Clinical and Translational Neurology, 2020
Objective Adult polyglucosan body disease (APBD) is an adult‐onset neurological variant of glycogen storage disease type IV. APBD is caused by recessive mutations in the glycogen branching enzyme gene, and the consequent accumulation of poorly branched ...
Erin E. Chown, Peixiang Wang, Xiaochu Zhao, Justin J. Crowder, Jordan W. Strober, Mitchell A. Sullivan, Yunlin Xue, Cody S. Bennett, Ami M. Perri, Bret M. Evers, Peter J. Roach, Anna A. Depaoli‐Roach, H. Orhan Akman, Bartholomew A. Pederson, Berge A. Minassian   +14 more
doaj   +1 more source

Beyond the label: Rethinking off‐label drug use in paediatrics. Towards a scientifically grounded and safer future for paediatric pharmacotherapy

British Journal of Clinical Pharmacology, EarlyView.
Abstract Despite regulatory progress being made in the past two decades, off‐label drug use in paediatrics remains pervasive, with prevalence estimated between 3% and 97% of prescriptions across different clinical settings. Off‐label use—defined as prescribing outside the conditions described in the Summary of Product Characteristics (SmPC)—is often ...
Tjitske M. van der Zanden, Miriam G. Mooij, Matthijs de Hoog, Saskia N. de Wildt   +3 more
wiley   +1 more source

Targeting neutrophil extracellular traps in metabolic and immune niche: Nanomaterials for diabetes tissue regeneration

BMEMat, EarlyView.
The effects of NETs on regeneration of various diabetic tissues, and strategies targeting NETs for diabetes tissue regeneration. In the diabetic environment, NETs undergo complex metabolic and immune reprogramming, leading to dynamic changes in antibacterial and proinflammatory functions, and affecting regeneration of multiple systemic tissues.
Xinyi Jiang, Muxin Yue, Kai Mao, Boon Chin Heng, Noor Azlin Yahya, Yunsong Liu, Zheng Li   +6 more
wiley   +1 more source

Status and future of recombinant adeno‐associated virus vector manufacturing

Biotechnology Progress, EarlyView.
Abstract Sixty years of adeno‐associated virus (AAV) research illustrates a trajectory marked by basic science exploration, iterative innovation, persistent challenges, a number of clinical setbacks, as well as commercial therapeutic triumphs. This continual evolution has led to recombinant AAV (rAAV) becoming a cornerstone of modern gene therapy ...
Frank Agbogbo, David Dismuke
wiley   +1 more source

History of glycogen storage disease type Ⅱ

Chinese Journal of Contemporary Neurology and Neurosurgery, 2018
Glycogen storage disease type Ⅱ (GSD Ⅱ), which is also called Pompe disease, is an autosomal recessive hereditary metabolic disease resulting from mutations of acid α-glucosidase (GAA).
Cheng ZHANG, Liang WANG
doaj   +1 more source

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

A novel sequence of the PHKG 2 mutation associated with the first case of glycogen storage diseases type IXc in Syria: a case report and review of literature

Journal of Medical Case Reports
Background Glycogen storage diseases are a group of inherited metabolic disorders that affect the body’s ability to break down and/or store glycogen. Type IX glycogen storage disease is an inherited disorder caused by a deficiency of phosphorylase kinase,
Seba Harh, Shaza Shahoud, Shady Daher, Diana Alasmar   +3 more
doaj   +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

Clinical features and genetic analysis of 7 patients with late-onset glycogen storage disease typeⅡ

Chinese Journal of Contemporary Neurology and Neurosurgery, 2014
Objective In order to make a well understanding on glycogen storage disease typeⅡ (GSDⅡ), this paper explored clinical features and genetic analysis of 7 patients with late-onset glycogen storage disease typeⅡ.
Juan YANG, Ji-qing CAO, Zhen-hua LIU, Yi-xin ZHAN, Ying-yin LIANG, Gui-ling MO, Ya-qin LI, Yi-ming SUN, Min-zi LI, Jing LI, Cheng ZHANG   +10 more
doaj