Objectives Nerve transfer is a promising intervention for restoring hand and upper limb function after cervical spinal cord injury (SCI), but the timeline of neurophysiological recovery in humans remains unclear. This study aimed to define recovery profiles after nerve transfers to restore upper limb function.
Kyle J. Missen +14 more
wiley +1 more source
A 310‐helix‐mediated conformational switch promotes a front‐face SNi‐like catalysis by human A4GALT. Mechanism‐guided design identifies AdaGalCer as a selective modulator of globotriaosylceramide (Gb3) biosynthesis, opening a clear route toward new Fabry disease therapeutics.
Nicky de Koster +13 more
wiley +2 more sources
Repeat expansion disorders frequently involve peripheral neuropathy, yet mechanisms remain unclear. Using a spinocerebellar ataxia type 3 (SCA3) Knock‐In Atxn3Q300/Q6, we identify progressive sensorimotor deficits, peripheral nerve pathology, and dorsal root ganglia RNA splicing dysregulation.
Juan P. Mato +7 more
wiley +1 more source
A dual role for ER-Golgi cargo receptor LMAN1 in supporting CSFV replication and restraining RLR signaling. [PDF]
Han K +8 more
europepmc +1 more source
Liposomal Delivery of L‐2‐Hydroxyglutarate for Targeting Epigenetic Dysregulation in Osteoarthritis
Osteoarthritis involves cartilage degeneration, inflammation, and epigenetic dysregulation. A liposomal formulation of the TET1 inhibitor L‐2‐hydroxyglutarate to overcome rapid joint clearance was developed. The formulation showed good physicochemical properties, reduced inflammatory and catabolic gene expression in chondrocytes, and alleviated ...
Denise Murgia +10 more
wiley +1 more source
Neonatal Pyruvate Kinase Deficiency Presenting with Severe Hemolytic Anemia and Liver Failure. [PDF]
Hsu YH +7 more
europepmc +1 more source
Clinical Evaluation of Pharmacokinetics, Efficacy, and Safety of a 10% Immunoglobulin in Primary Immunodeficiency Disease (CARES10 Study). [PDF]
Roifman CM +14 more
europepmc +1 more source
Mitapivat therapy in a patient with nonsense homozygous mutation of the Pyruvate Kinase L/R gene: a case report. [PDF]
Ceglie S +4 more
europepmc +1 more source
Overall Survival of Patients With Pyruvate Kinase Deficiency in the UK: A Real‐World Study
Patrick Foy +11 more
doaj +1 more source
Mannose receptor contributes to preferential oligomannosidic glycoform clearance in a murine pharmacokinetics model. [PDF]
Falck D +7 more
europepmc +1 more source

