Lysosomal storage diseases are monogenic metabolic disorders resulting from a deficiency in intralysosomal enzymes involved in macromolecule catabolism. Various groups have been delineated according to the affected pathway and the accumulated substrate: mucopolysaccharidoses, lipidoses, glycoproteinoses and glycogenosis type II. Their clinical severity and the absence of efficient therapy for the majority of these disorders justify the development of gene transfer methods. Most of the genes encoding the normal lysosomal enzymes have been cloned and recently numerous animal models have been obtained for nearly all these diseases. Due to the clinical heterogeneity of lysosomal diseases, showing multivisceral involvement or affecting predominantly the reticuloendothelial system, muscle or central nervous system, various gene therapy strategies have to be developed. Vectors, ways of access, results and limits will be reviewed. Interesting results have already been obtained in the gene transfer for lysosomal diseases, but improvements are needed before a future application to humans.
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http://dx.doi.org/10.1016/s0753-3322(00)00009-3 | DOI Listing |
J Mol Med (Berl)
January 2025
Cardiovascular Surgery Department of The First Affiliated Hospital of Harbin Medical University, and Pharmacology Department of Pharmacy College of Harbin Medical University, Harbin, 150081, China.
Myocardial ischemia/reperfusion (IR) injury is a common adverse event in the clinical treatment of myocardial ischemic disease. Autosis is a form of cell death that occurs when autophagy is excessive in cells, and it has been associated with cardiac IR damage. This study aimed to investigate the regulatory mechanism of circRNA CDR1AS on autosis in cardiomyocytes under IR.
View Article and Find Full Text PDFCommun Biol
January 2025
Division of Geriatrics, Department of Medicine, SMPH, University of Wisconsin-Madison, Madison, WI, USA.
Changes in brain mitochondrial metabolism are coincident with functional decline; however, direct links between the two have not been established. Here, we show that mitochondrial targeting via the adiponectin receptor activator AdipoRon (AR) clears neurofibrillary tangles (NFTs) and rescues neuronal tauopathy-associated defects. AR reduced levels of phospho-tau and lowered NFT burden by a mechanism involving the energy-sensing kinase AMPK and the growth-sensing kinase GSK3b.
View Article and Find Full Text PDFBiomed Pharmacother
January 2025
Laboratory of Pharmaceutical Technology and Biotechnology, Department of Pharmacy, Federal University of Rio Grande do Norte-UFRN, Natal, RN, Brazil. Electronic address:
Chagas disease is a neglected tropical disease caused by the protozoan Trypanosoma cruzi, remains a significant global health challenge. Currently, benznidazole (BNZ) is the primary treatment in many countries. However, this drug is limited by low bioavailability, significant host toxicity, and reduced efficacy in chronic disease phase.
View Article and Find Full Text PDFHum Immunol
January 2025
Department of Urology, Jiaxing Second Hospital, Jiaxing 314000, China. Electronic address:
Previous studies have revealed the essential role of lysosomes in human diseases, including cancer. However, there is a lack of in-depth systematic research on its function in kidney renal clear cell carcinoma (KIRC). In this project, we collected the public dataset of KIRC and selected lysosomal genes tightly linked with survival.
View Article and Find Full Text PDFBMC Pregnancy Childbirth
January 2025
Department of Clinical Genetics, Rennes University Hospital, Rennes, France.
Background: Mucopolysaccharidosis type I (MPS I - IDUA gene) is a rare autosomal recessive lysosomal storage disorder. Clinical symptoms, including visceral overload, are progressive and typically begin postnatally. Descriptions of hepatosplenomegaly associated with lysosomal pathology are uncommon during the prenatal period.
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