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Effects of HMG CoA reductase (HMGCR) deficiency on skeletal muscle development.
FEBS J
January 2025
Greg Marzolf Jr. Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, MN, USA.
Pathogenic variants in HMGCR were recently linked to a limb-girdle muscular dystrophy (LGMD) phenotype. The protein product HMG CoA reductase (HMGCR) catalyzes a key component of the cholesterol synthesis pathway. The two other muscle diseases associated with HMGCR, statin-associated myopathy (SAM) and autoimmune anti-HMGCR myopathy, are not inherited in a Mendelian pattern.
View Article and Find Full Text PDFTamarind seed gum-based hydrogel for the targeted delivery of imidazobenzothiazole sulfonamide derivative as an anticancer agent.
Int J Biol Macromol
January 2025
Division of Cancer Research and Therapeutics (CaRT), Yenepoya Research Centre, Yenepoya (Deemed to be University), Mangalore 585018, Karnataka, India.
The current investigation intended to assess the controlled delivery of 7-sulfonamide-2-(4-methylphenyl) imidazo[2,1-b] [1, 3] benzothiazole an anticancer agent (ACA) by tamarind seed gum-based hydrogel; for its potential activity against hepatocellular carcinoma. The FTIR spectra, SEM, C NMR, PXRD, and TGA analyses evidenced the successful loading of ACA into the hydrogel system. The rheological testing conveyed the increase in the elastic nature of ACA-loaded hydrogel helping in an effective release.
View Article and Find Full Text PDFTribute to Dr. William L. Pak and the origins of the Cold Spring Harbor summer course on neurobiology.
J Neurogenet
December 2024
Editor-in-Chief, Journal of Neurogenetics, Department of Biology, University of Iowa, Iowa City, Iowa, 52242, USA.
EEFSEC deficiency: A selenopathy with early-onset neurodegeneration.
Am J Hum Genet
January 2025
Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany; Center for Rare Disease, University of Tübingen, 72076 Tübingen, Germany; Genomics for Health in Africa (GHA), Africa-Europe Cluster of Research Excellence (CoRE).
Inborn errors of selenoprotein expression arise from deleterious variants in genes encoding selenoproteins or selenoprotein biosynthetic factors, some of which are associated with neurodegenerative disorders. This study shows that bi-allelic selenocysteine tRNA-specific eukaryotic elongation factor (EEFSEC) variants cause selenoprotein deficiency, leading to progressive neurodegeneration. EEFSEC deficiency, an autosomal recessive disorder, manifests with global developmental delay, progressive spasticity, ataxia, and seizures.
View Article and Find Full Text PDFVariants in EP400, encoding a chromatin remodeler, cause epilepsy with neurodevelopmental disorders.
Am J Hum Genet
January 2025
Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, the Second Affiliated Hospital, Guangzhou Medical University, Guangzhou 510260, Guangdong, China. Electronic address:
Article Synopsis
- EP400 is a gene that encodes an essential protein for ATP-dependent chromatin remodeling, and its role in diseases is not well understood, although this study suggests a link to epilepsy and neurodevelopmental disorders (NDDs).
- Researchers conducted whole-exome sequencing on 402 families and found EP400 variants associated with individuals experiencing epilepsy and NDDs, with some variants being inherited and others newly formed.
- The study also demonstrated that EP400 is crucial during brain development, particularly in neurons, and its deficiency can lead to significant neurological issues, making it a potentially key player in these conditions.
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