Results 61 to 70 of about 618,834 (263)

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

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

Rare and common genetic determinants of metabolic individuality and their effects on human health

Nature Medicine, 2022
Garrod’s concept of ‘chemical individuality’ has contributed to comprehension of the molecular origins of human diseases. Untargeted high-throughput metabolomic technologies provide an in-depth snapshot of human metabolism at scale.
P. Surendran, I. Stewart, Victoria P W Au Yeung, Maik Pietzner, Johannes Raffler, Maria A. Wörheide, Chen Li, Rebecca F Smith, L. Wittemans, L. Bomba, C. Menni, J. Zierer, Niccolò Rossi, Patricia A Sheridan, N. Watkins, M. Mangino, P. Hysi, E. di Angelantonio, M. Falchi, T. Spector, N. Soranzo, G. Michelotti, W. Arlt, L. Lotta, Spiros C. Denaxas, H. Hemingway, E. Gamazon, J. Howson, A. Wood, J. Danesh, N. Wareham, G. Kastenmüller, E. Fauman, K. Suhre, A. Butterworth, C. Langenberg   +35 more
semanticscholar   +1 more source

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

Food allergy as one of the faces of primary immunodeficiency [PDF]

Exploration of Asthma & Allergy
Food allergy is characterized by an abnormal immune reaction that occurs reproducibly upon exposure to a specific food. This immune response can lead to a variety of symptoms, the prevalence of food allergies has increased in recent decades, most likely ...
Polina Kostova, Vera Papochieva, Martin Shahid, Guergana Petrova   +3 more
doaj   +1 more source

Persistent Leukoencephalopathy Following H1N1 Infection Associated With a Novel MYRF Variant (p.Gly735Asp)

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Mutations in myelin regulatory factor (MYRF) are linked to demyelinating disorders. We report a 38‐year‐old male who developed acute symmetric leukoencephalopathy mimicking a stroke following an influenza A virus infection. While clinical symptoms markedly improved with corticosteroids, MRI revealed persistent white matter lesions, contrasting
Jinghan Hu, Leiyun Huang, Wan Zhu, Min Peng, Qiang Gong, Jing Qian   +5 more
wiley   +1 more source

A Human Neural Tube Model Using 4D Self‐Folding Smart Scaffolds

Advanced Healthcare Materials, EarlyView.
Induced pluripotent stem cells (iPSCs) exhibit features comparable to the inner cell mass of the human embryo. iPSCs are applied to a novel self‐folding 4D‐Neural Tube (4D‐NT) structure that mimics the neurulation process. This 4D‐NT model recapitulates early events of human neural development and represents a platform to explore neurodevelopmental ...
Claudia Dell'Amico, Irene Chiesa, Angela Toffano, Alessio Esposito, Piera Mancini, Chiara Magliaro, Angeliki Louvi, Carmelo De Maria, Marco Onorati   +8 more
wiley   +1 more source

A Novel Brain Penetrable Nanocarrier Delivers Brain‐Derived Neurotrophic Factor to Treat Alzheimer's Disease

Advanced Healthcare Materials, EarlyView.
A novel blood‐brain barrier‐penetrating terpolymer nanoparticle to deliver brain‐derived neurotrophic factor (BDNF) for the treatment of Alzheimer's disease (AD) is designed. The BDNF‐TPN significantly enhances BDNF accumulation in the brain following intravenous injection, reduces apoptosis and neuroinflammation, thus promoting neuronal survival and ...
Lily Yi Li, Elliya Park, Chunsheng He, Azhar Z. Abbasi, Pei Zhi, Paul E. Fraser, Andrew M. Rauth, Jeffery T. Henderson, Xiao Yu Wu   +8 more
wiley   +1 more source

Extracellular‐Matrix‐Based Materials from Decellularized Tissue: Opportunities, Challenges, and Future Directions in Regenerative Medicine

Advanced Healthcare Materials, EarlyView.
Extracellular matrix‐based materials derived from decellularized tissue (dECM) harness the tissue's native bioactivity to guide repair and regeneration across diverse clinical applications. This perspective highlights clinical uses of dECM biomaterials and advances in fabrication methods such as electrospinning and 3D printing.
Madeline Laude, Vasiliki Kolliopoulos, Antonios G. Mikos, Lisa J. White, Elizabeth Cosgriff‐Hernandez   +4 more
wiley   +1 more source

Microphysiological Systems of Lymphatics and Immune Organs

Advanced Healthcare Materials, EarlyView.
This review surveys recent progress in engineering lymphatic microenvironments and immune organoids within microphysiological systems, emphasizing innovative strategies to recreate the biochemical and biophysical complexity of native lymphatic tissues.
Ishita Jain, Ankur Singh, Andrés J. García   +2 more
wiley   +1 more source