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Human recombinant tyrosinase destabilization caused by the double mutation R217Q/R402Q.
Protein Sci
February 2025
Protein Biochemistry and Molecular Modeling Group, OGVFB, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.
Oculocutaneous albinism is an autosomal recessive inherited disorder associated with mutations in the TYR gene. A single missense change in the tyrosinase (Tyr) could result in partial or complete loss of catalytic activity. The effect of two genetic mutations in the same Tyr as the molecule is less studied.
View Article and Find Full Text PDFSingle-cell RNA sequencing and immune microenvironment analysis reveal PLOD2-driven malignant transformation in cervical cancer.
Front Immunol
January 2025
The Third Affiliated Hospital of Beijing University of Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China.
Background: Cervical cancer is the fourth most common cancer in women globally, and the main cause of the disease has been found to be ongoing HPV infection. Cervical cancer remains the primary cause of cancer-related death despite major improvements in screening and treatment approaches, especially in low- and middle-income nations. Therefore, it is crucial to investigate the tumor microenvironment in advanced cervical cancer in order to identify possible treatment targets.
View Article and Find Full Text PDFEnzymes enabling the biosynthesis of various C polyunsaturated fatty acids in a sea urchin .
Open Biol
January 2025
Department of Marine Biosciences, Tokyo University of Marine Science and Technology, 4-5-7 Konan, Minato-ku , Tokyo 108-8477, Japan.
Sea urchins, integral to marine ecosystems and valued as a delicacy in Asia and Europe, contain physiologically important long-chain (>C) polyunsaturated fatty acids (PUFA) in their gonads, including arachidonic acid (ARA, 20:4n-6), eicosapentaenoic acid (EPA, 20:5n-3) and unusual non-methylene-interrupted fatty acids (NMI-FA) such as 20:2. Although these fatty acids may partially be derived from their diet, such as macroalgae, the present study on has uncovered multiple genes encoding enzymes involved in long-chain PUFA biosynthesis. Specifically, 3 fatty acid desaturases (FadsA, FadsC1 and FadsC2) and 13 elongation of very-long-chain fatty acids proteins (Elovl-like, Elovl1/7-like, Elovl2/5-like, Elovl4-like, Elovl8-like and Elovl6-like A-H) were identified in their genome and transcriptomes.
View Article and Find Full Text PDFGenetics and Pathophysiology of Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
J Clin Endocrinol Metab
January 2025
Division of Pediatric Endocrinology, Department of Pediatrics, UT Southwestern Medical Center, Dallas, TX 75390, USA.
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease that manifests clinically in varying forms depending on the degree of enzyme deficiency. CAH is most commonly caused by 21-hydroxylase deficiency (21OHD) due to mutations in the CYP21A2 gene. Whereas there is a spectrum of disease severity, 21OHD is generally categorized into 3 forms.
View Article and Find Full Text PDFHeterologous Biosynthesis of Terpenoids in Saccharomyces cerevisiae.
Biotechnol J
January 2025
Beijing Advanced Innovation Center for Soft Matter Science and Engineering, College of Life Science and Technology, Beijing University of Chemical Technology, Beijing, China.
Terpenoids are widely distributed in nature and have various applications in healthcare products, pharmaceuticals, and fragrances. Despite the significant potential that terpenoids possess, traditional production methods, such as plant extraction and chemical synthesis, face challenges in meeting current market demand. With the advancement of synthetic biology and metabolic engineering, it becomes feasible to construct efficient microbial cell factories for large-scale production of terpenoids.
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