Results 41 to 50 of about 48,814 (291)

Citrulline in the management of patients with urea cycle disorders

Orphanet Journal of Rare Diseases, 2023
Background Treatment recommendations for urea cycle disorders (UCDs) include supplementation with amino acids involved in the urea cycle (arginine and/or citrulline, depending on the enzyme deficiency), to maximize ammonia excretion through the urea ...
Apolline Imbard, Juliette Bouchereau, Jean-Baptiste Arnoux, Anaïs Brassier, Manuel Schiff, Claire-Marine Bérat, Clément Pontoizeau, Jean-François Benoist, Constant Josse, François Montestruc, Pascale de Lonlay   +10 more
doaj   +1 more source

Molecular determinants of signal transduction in tropomyosin receptor kinases

FEBS Open Bio, EarlyView.
Tropomyosin receptor kinases control critical neuronal functions, but how do the same receptors produce diverse cellular responses? This review explores the structural mechanisms behind Trk signaling diversity, focusing on allosteric modulation and ligand bias.
Giray Enkavi
wiley   +1 more source

DYSTROPHIC EPIDERMOLYSIS BULLOSA: CASE SERIES OF THREE RELATED PATIENTS

Central Asian Journal of Medical Hypotheses and Ethics
Background: Dystrophic Epidermolysis Bullosa (DEB) is a rare inherited skin disorder characterized by blistering, chronic wounds, and scarring due to mutations in the COL7A1 gene. While epidemiological data are available from certain regions, information
Ulpan Zharylkap, Sanimbala Ospanova, Aigerim Idrissova   +2 more
doaj   +1 more source

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco, Mònica Roldán, Yalda Jamshidi, Ioannis Georvasilis, Rocío Jadraque Rodríguez, Reza Boostani, Ali Shoeibi, Lluís Armengol, Anna Codina, Ehsan Ghayoor Karimiani, Cristina Hernando‐Davalillo, Loreto Martorell, María Luisa Ramírez Almaraz, Jordi Muchart, Carlos Ortez, Andrés Nascimento, Roser Urreizti, Daniel Natera‐de Benito, Mercedes Serrano   +18 more
wiley   +1 more source

Improvement in the production of the human recombinant enzyme N-acetylgalactosamine-6-sulfatase (rhGALNS) in Escherichia coli using synthetic biology approaches

Scientific Reports, 2017
Previously, we demonstrated production of an active recombinant human N-acetylgalactosamine-6-sulfatase (rhGALNS) enzyme in Escherichia coli as a potential therapeutic alternative for mucopolysaccharidosis IVA.
Luis H. Reyes, Carolina Cardona, Luisa Pimentel, Alexander Rodríguez-López, Carlos J. Alméciga-Díaz   +4 more
doaj   +1 more source

Inborn errors of immunity with eosinophilia

Allergology International, 2021
Monogenic diseases of the immune system, also known as inborn errors of immunity (IEIs), are caused by single-gene mutations and result in immune deficiency and dysregulation. More than 400 monogenic diseases have been described to date, and this number is rapidly expanding.
Keisuke Okamoto, Tomohiro Morio
openaire   +4 more sources

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

Perfusable Brain Microvascular Network‐On‐Chip Model to Study Flavivirus NS1‐Induced Endothelial Dysfunction

Advanced Functional Materials, EarlyView.
This study presents a microfluidic brain microvascular network‐on‐chip (BMVasChip) to investigate endothelial barrier dysfunction caused by flavivirus non‐structural protein 1 (NS1), including virus‐ and time‐dependent vascular damage, leakiness, and dysfunction.
Monika Rajput, Yen‐Ting Tung, Yu‐Chi Chen, Min Jae Song, Marc Ferrer, Emily M. Lee   +5 more
wiley   +1 more source

Anionic Citrate‐Based 3D‐Printed Scaffolds for Tunable and Sustained Orthobiologic Delivery to Enhance Tissue Regeneration

Advanced Functional Materials, EarlyView.
A potent anionic citric acid‐based 3D‐printed scaffold is developed for the sustained and controlled release of orthobiologics to enhance orthopedic therapeutic efficacy. Comprehensive in vivo studies demonstrated effective bone fusion and high safety at a low dose of BMP‐2 delivered by the system, establishing it as a promising platform for safe ...
Se‐Hwan Lee, Ruqiang Lu, Andrew House, Zizhao Li, Lindsey Hammond Burton, Katie Josephine Sikes, Lynn Marie Pezzanite, Drew William Koch, Kevin Michael Labus, Ben Gadomski, Jeremiah Easley, Richard Tuan Tran, Su Chin Heo   +12 more
wiley   +1 more source

Enzyme‐Regulated Extended Swelling of Hydrogels for Dehiscence‐Less Tissue Expansions

Advanced Functional Materials, EarlyView.
An interpenetrating hydrogel network with swelling under regulation by enzymatic degradation (INSURED) is fabricated to avoid dehiscence. INSURED remains structurally intact post‐implantation, while HYAL injection enables control over the onset and rate of swelling.
Byung Ik Park, Dong‐yup Lee, Sungsoo Lim, JangHyuk Kim, Min‐Gyu Lee, Chang Seo Park, Hyeonuk Na, Yong Eun Cho, Yun Hyeok Lee, Junsang Doh, Jeong‐Yun Sun   +10 more
wiley   +1 more source