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Disrupting the transmembrane domain interface between PMP22 and MPZ causes peripheral neuropathy.
iScience
November 2024
Department of Molecular Physiology and Biophysics, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.
Peripheral Myelin Protein 22 (PMP22) and MPZ are abundant myelin membrane proteins in Schwann cells. The MPZ adhesion protein holds myelin wraps together across the intraperiod line. PMP22 is a tetraspan protein belonging to the Claudin superfamily.
View Article and Find Full Text PDFMechanism of podophyllotoxin-induced ovarian toxicity via the AMPK/TSC1/mTOR/ULK1 axis in rats on the basis of toxicological evidence chain (TEC) concept.
Ecotoxicol Environ Saf
December 2024
Luoyang Key Laboratory of Clinical Multiomics and Translational Medicine, Key Laboratory of Hereditary Rare Diseases of Health Commission of Henan Province, Henan Key Laboratory of Rare Diseases, Endocrinology and Metabolism Center, The First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang 471003, China. Electronic address:
Article Synopsis
- Podophyllotoxin has potential clinical benefits, such as anticancer effects, but its toxicity limits its use in medicine.
- The research involved creating a rat model to study how podophyllotoxin damages ovaries, revealing symptoms like diarrhea and bruising, alongside significant biochemical and pathological changes.
- The study found that podophyllotoxin's toxicity is linked to alterations in autophagy, specifically through the AMPK/TSC1/mTOR/ULK1 signaling pathway, providing new insights for its clinical application.
A Japanese Family with a Novel Pathogenic Variant in KIF1A Presenting with Spastic Paraparesis, Cerebellar Ataxia, and Intellectual Disability.
Cerebellum
December 2024
Department of Neurology, International University of Health and Welfare Mita Hospital, Mita 1-4-3, Minato-ku, Tokyo, 108-8329, Japan.
Variants in KIF1A are associated with hereditary spastic paraplegia (SPG30), which can manifest in both pure and complex forms. We describe a Japanese family with a novel KIF1A variant presenting with a complex form of SPG30. Patient 1, a 69-year-old woman, experienced progressive gait disturbance due to spastic paraparesis and cerebellar atrophy, and intellectual disability.
View Article and Find Full Text PDFMolecular and clinical characterization of two independent Chinese families with protein C deficiency.
Ann Hematol
December 2024
Department of Clinical Laboratory, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, The First Affiliated Hospital of Wenzhou Medical University, Shangcai Village, Ouhai District, Wenzhou, 325000, China.
This study aims to investigate the clinical characterization and molecular pathogenic basis of hereditary protein C (PC) deficiency in two independent Chinese families, and conduct in vitro expression studies on the newly discovered p.Trp444Arg mutation. The PC activity (PC: A) was tested using the chromogenic substrate, and PC antigen (PC: Ag) was detected via enzyme-linked immunosorbent assay (ELISA).
View Article and Find Full Text PDFNon-viral gene therapy for Leber's congenital amaurosis: progress and possibilities.
Nanomedicine (Lond)
December 2024
Department of Bioengineering, King Fahd University of Petroleum and Minerals (KFUPM), Dhahran, Saudi Arabia.
Leber's congenital amaurosis (LCA) represents a set of rare and pervasive hereditary conditions of the retina that cause severe vision loss starting in early childhood. Targeted treatment intervention has become possible thanks to recent advances in understanding LCA genetic basis. While viral vectors have shown efficacy in gene delivery, they present challenges related to safety, low cargo capacity, and the potential for random genomic integration.
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