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TRAPPopathies: Severe Multisystem Disorders Caused by Variants in Genes of the Transport Protein Particle (TRAPP) Complexes.
Int J Mol Sci
December 2024
Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.
The TRAPP (TRAnsport Protein Particle) protein complex is a multi-subunit complex involved in vesicular transport between intracellular compartments. The TRAPP complex plays an important role in endoplasmic reticulum-to-Golgi and Golgi-to-plasma membrane transport, as well as autophagy. TRAPP complexes comprise a core complex, TRAPPI, and the association of peripheral protein subunits to make two complexes, known as TRAPPII and TRAPPIII, which act as Guanine Nucleotide Exchange Factors (GEFs) of Rab11 and Rab1, respectively.
View Article and Find Full Text PDFClinical Complications and Healthcare Resource Utilization Associated with Conventional Management of Sickle Cell Disease with Recurrent Vaso-occlusive Crises and Transfusion-Dependent β-Thalassemia in Germany.
Pharmacoecon Open
January 2025
Division of Pediatric Stem Cell Therapy, Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Heinrich-Heine-University, Duesseldorf, Germany.
Objective: The purpose of this study was to describe clinical complications and healthcare resource utilization (HCRU) among patients with sickle cell disease (SCD) with recurrent vaso-occlusive crises (VOCs) and patients with transfusion-dependent β-thalassemia (TDT) in Germany.
Methods: The Betriebskrankenkasse (BKKs) Database was used to identify patients with SCD or TDT. To be eligible for inclusion, patients with SCD were required to have ≥ 2 VOCs/year in any two consecutive years and ≥ 12 months of available data before and after the index date (second VOC in the second consecutive year).
Intrathecal or intravenous AAV9-IDUA/RGX-111 at minimal effective dose prevents cardiac, skeletal and neurologic manifestations of murine MPS I.
Mol Ther Methods Clin Dev
December 2024
Center for Genome Engineering, Department of Genetics, Cell Biology and Development, University of Minnesota, Minneapolis, MN, USA.
Article Synopsis
- Mucopolysaccharidosis type I (MPS I) is a rare condition caused by a deficiency in the enzyme α-L-iduronidase (IDUA), leading to the buildup of glycosaminoglycans and various health issues.
- Current treatments like stem cell transplants and enzyme replacement often fall short in addressing all patient symptoms.
- In a study with MPS I mice, administering a specific viral vector (RGX-111) at a minimal dose of 10 vector genomes showed significant metabolic improvement and reduced severe symptoms, suggesting a promising approach for human therapy.
Identification of ZNF850 as a novel CTG repeat expansion-related gene in myotonic dystrophy type 1 patient-derived iPSCs.
Hum Mol Genet
December 2024
Department of Peripheral Nervous System Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1, Ogawa-Higashi, Kodaira, Tokyo 187-8502, Japan.
Myotonic dystrophy type 1 (DM1) is a dominantly inherited multi-system disease caused by expanded CTG repeats in the 3' untranslated region of the dystrophia myotonica protein kinase (DMPK) gene. Similar to other repeat disorders, the expanded trinucleotide repeat is unstable and demonstrates a tendency to increase repeat size with age in affected tissues. DNA mismatch repair system is implicated in somatic instability.
View Article and Find Full Text PDFExercise your graft - An important lesson for cell replacement therapy for Parkinson's disease.
Exp Neurol
December 2024
Sanford Consortium for Regenerative Medicine, La Jolla, CA 92037, USA; Sanford Burnham Prebys Medical Discovery Institute, Center for Stem Cells & Regenerative Medicine, La Jolla, CA 92037, USA.
Article Synopsis
- Parkinson's disease (PD) is a chronic and currently incurable illness affecting millions, leading to increased interest in using pluripotent stem cells for cell replacement therapy to restore lost neurons.
- Despite advancements in therapy, challenges persist in effectively connecting these new neurons to the existing brain circuits, but combining cell therapy with physical activity may enhance these connections.
- Exercise, such as treadmill workouts, has been shown to improve motor and cognitive functions in PD patients, enabling them to relearn movements and enhance their neural circuit connections for better overall functioning.
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