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Tail Anchored protein insertion mediated by CAML and TRC40 links to neuromuscular function in mice.
PLoS Genet
January 2025
Department of Pediatric and Adolescent Medicine, Mayo Clinic, 200 1st St. SW, Rochester, Minnesota 55905, United States of America.
Motor neuron diseases, such as amyotrophic lateral sclerosis (ALS) and progressive bulbar palsy, involve loss of muscle control resulting from death of motor neurons. Although the exact pathogenesis of these syndromes remains elusive, many are caused by genetically inherited mutations. Thus, it is valuable to identify additional genes that can impact motor neuron survival and function.
View Article and Find Full Text PDFBrain Transcriptome Changes Associated With an Acute Increase of Protein O-GlcNAcylation and Implications for Neurodegenerative Disease.
J Neurochem
January 2025
Department of Pathology, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Enhancing protein O-GlcNAcylation by pharmacological inhibition of the enzyme O-GlcNAcase (OGA) has been considered as a strategy to decrease tau and amyloid-beta phosphorylation, aggregation, and pathology in Alzheimer's disease (AD). There is still more to be learned about the impact of enhancing global protein O-GlcNAcylation, which is important for understanding the potential of using OGA inhibition to treat neurodegenerative diseases. In this study, we investigated the acute effect of pharmacologically increasing O-GlcNAc levels, using the OGA inhibitor Thiamet G (TG), in normal mouse brains.
View Article and Find Full Text PDFDouble left brachiocephalic vein in a paediatric patient with CHD: a case report.
Indian J Thorac Cardiovasc Surg
February 2025
Department of Paediatric Cardiothoracic Surgery, Sri Satya Sai Sanjeevani Centre for Child Heart Care and Training in Pediatric Cardiac Skills, Atal Nagar- Nava Raipur 492101, Chhattisgarh Atal Nagar-Nava Raipur, India.
Anomalous brachiocephalic vein (ABCV) is a rare entity of head and neck venous channel variations and malformations. Amongst the five subtypes of ABVC, double left brachiocephalic vein (DLBCV) is the rarest. We present the case of a 1-year-11-month-old syndromic child, who had global developmental delay (GDD) with Sprengel deformity and failure to thrive (suspected Klippel Feil phenotype), who presented to us for the cardiac evaluation.
View Article and Find Full Text PDFRed blood cell alloimmunization among transfusion-dependent thalassemia major patients in Northeastern Iran.
Asian J Transfus Sci
December 2022
Cellular and Molecular Research Center, Birjand University of Medical Sciences, Birjand, Iran.
Background: Thalassemia is one of the most common congenital hemoglobinopathies globally. Regular red blood cell (RBC) transfusion is of paramount importance in the treatment of thalassemia patients. However, this practice increases the risk of alloimmunization.
View Article and Find Full Text PDFNeuro and Psychomotor Therapist of Developmental Age Professional in Italy: An Anomaly or an Opportunity?
Arch Rehabil Res Clin Transl
December 2024
Centro Clinico Nemo Pediatrico, Fondazione Policlinico "A. Gemelli" IRCCS, Rome, Italy.
The aim of this work is to explore the distinct role of the Neuro and Psychomotor Therapist of Developmental Age (TNPEE) within the Italian health care system, examining challenges in recognizing and comparing this profession with international counterparts, particularly physiotherapists and occupational therapists. The historical evolution and educational framework, integrated into the Italian university model, provide a foundation for TNPEE's competencies in rehabilitation and habilitation. The TNPEE operates within the bio-psycho-social model, addressing the developmental age range with a holistic approach.
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