Article
Developmental Biology
Wei-Chia Tseng, Ana J. Johnson Escauriza, Chon-Hwa Tsai-Morris, Benjamin Feldman, Ryan K. Dale, Christopher A. Wassif, Forbes D. Porter
Summary: NPC is a rare, fatal neurodegenerative lysosomal disease caused by mutations in NPC1 or NPC2, resulting in the accumulation of cholesterol and other lipids in the lysosome and reduction in cellular cholesterol bioavailability.
Article
Multidisciplinary Sciences
Yu Bai, Shuangyi Yin, Vivian Gbordzor, Yu Guo, Qing Bai, Shuaiwei Wang, Xiangyan Wei, Na Chen, Yijie Zhang, Wei Li
Summary: The study found that increased levels of plasma NPC2 in sepsis patients are associated with multiple organ failure, possibly due to renal clearance deficiency, and may serve as a prognostic marker for sepsis.
SCIENTIFIC REPORTS
(2021)
Article
Biochemistry & Molecular Biology
B. T. Nganso, K. Mani, N. Eliash, A. Rafaeli, V Soroker
Summary: The study focused on putative odorant carrier proteins in Varroa destructor and found that silencing of Vd40090 disrupted host selection, acceptance and feeding, as well as impaired gene expression related to reproduction in brood cells, leading to reduced reproduction and survival.
INSECT MOLECULAR BIOLOGY
(2021)
Article
Multidisciplinary Sciences
Ting-Ting Chu, Xintao Tu, Kun Yang, Jianjun Wu, Joyce J. Repa, Nan Yan
Summary: This study identifies a cGAS- and cGAMP-independent mode of STING activation that affects neuropathology and provides a therapeutic target for the treatment of Niemann-Pick disease type C.
Article
Biochemistry & Molecular Biology
Dejuan Liang, Huaqing Chen, Liping An, Yao Li, Peizhen Zhao, Archana Upadhyay, Bill S. Hansson, Jianguo Zhao, Qian Han
Summary: Ticks are important vectors of pathogens, and understanding their chemoreception mechanisms can help in tick management. Two NPC2 genes were cloned and functionally characterized in Rhipicephalus linnaei, a species of brown dog tick. These genes were expressed in all developmental stages, with the highest expression in adult males. Ligand binding analysis showed that R.linNPC2b had a wide spectrum of ligand binding, while R.linNPC2a had a more narrow range. Molecular docking suggested that specific amino acid residues in these proteins may play a key role in ligand recognition. These findings contribute to our understanding of the olfactory mechanisms in R. linnaei and provide new directions for tick management.
PESTICIDE BIOCHEMISTRY AND PHYSIOLOGY
(2023)
Article
Multidisciplinary Sciences
Marjorie Labrecque, Lahoud Touma, Claude Bherer, Antoine Duquette, Martine Tetreault
Summary: Niemann-Pick type C (NP-C) disease is caused by variants in the NPC1 or NPC2 genes and can present with diverse symptoms depending on age of onset. A study in Quebec estimated the prevalence of NP-C to be 0.61:100,000 live births by identifying two pathogenic variants. This suggests that NP-C may be underdiagnosed in the population and emphasizes the importance of early detection and treatment.
SCIENTIFIC REPORTS
(2021)
Article
Pediatrics
Abdullah Al-Shamrani, Khalid Al-Shamrani, Ahmed Bin Mahfoudh, Ahmed Sarar Mohamed, Sarar Mohamed
Summary: This case report presents a 3-year-old boy with Niemann-Pick disease type C2. The patient exhibited respiratory symptoms, cholestasis, neurological impairment, and hepatosplenomegaly. Genetic study confirmed the diagnosis, emphasizing limited therapeutic options and the importance of genetic counseling and prevention of recurrence.
Article
Medicine, Research & Experimental
Denzil Furtado, Christina Cortez-Jugo, Ya Hui Hung, Ashley I. Bush, Frank Caruso
Summary: Researchers successfully used NPC1-encoded mRNA to combat protein insufficiency and pathogenic phenotype caused by biallelic NPC1 mutations, achieving treatment for the rare disease NP-C1. The gene engineering strategies greatly improved the expression efficiency of the mRNA.
MOLECULAR PHARMACEUTICS
(2022)
Article
Hematology
Daniela Castiblanco, Jesse A. Rudd-Schmidt, Tahereh Noori, Vivien R. Sutton, Ya Hui Hung, Thijs W. H. Flinsenberg, Adrian W. Hodel, Neil D. Young, Nicholas Smith, Drago Bratkovic, Heidi Peters, Mark Walterfang, Joseph A. Trapani, Amelia J. Brennan, Ilia Voskoboinik
Summary: The study revealed that NPC1 deficiency impairs CTL cytotoxicity, increasing susceptibility to atypical infections and impaired immune surveillance in patients with NP-C1.
Article
Cell Biology
John Pluvinage, Jerry Sun, Christel Claes, Ryan A. Flynn, Michael S. Haney, Tal Iram, Xiangling Meng, Rachel Lindemann, Nicholas M. Riley, Emma Danhash, Jean Paul Chadarevian, Emma Tapp, David Gate, Sravani Kondapavulur, Inma Cobos, Sundari Chetty, Anca M. Pasca, Sergiu P. Pasca, Elizabeth Berry-Kravis, Carolyn R. Bertozzi, Mathew Blurton-Jones, Tony Wyss-Coray
Summary: The dysfunction of lysosomes is a common feature in both rare lysosomal storage diseases and common age-related neurodegenerative diseases. A study found that CD22 is expressed in oligodendrocytes in the human brain and binds to sialic acid-dependent ligands on microglia. Interaction between sCD22 and IGF2R disrupts lysosomal protein trafficking, and interference with this interaction improved lysosome dysfunction in human NPC1 mutant cells.
SCIENCE TRANSLATIONAL MEDICINE
(2021)
Article
Entomology
Kyaw Lin Maung, Dapeng Jing, Tiantao Zhang, Sivaprasath Prabu, Kanglai He, Shuxiong Bai, Zhenying Wang
Summary: NPC2 proteins in arthropods have diverse functions and are potentially involved in chemical communication. The NPC2 gene in Macrocentrus cingulum was identified with unique structures and amino acid sequences, suggesting a role in perception of plant volatiles. Recombinant McinNPC2 has been shown to interact with odor molecules, with beta-ionone demonstrating strong binding specificity.
JOURNAL OF ASIA-PACIFIC ENTOMOLOGY
(2021)
Article
Entomology
Hongxu Zhou, Hong Yan, Endong Wang, Bo Zhang, Xuenong Xu
Summary: In this study, a NPC2 gene PpNPC2a was cloned from the transcriptome of Phytoseiulus persimilis Athias-Henriot, and its highest expression was found in female adults. By interfering the expression of PpNPC2a, it was found to be involved in the response to the scent of leaves or plants infested by spider mites. However, the dsNPC2a-treated mites could still respond to representative compounds of herbivore-induced plant volatiles, suggesting a potential involvement of PpNPC2a in the chemosensory process of P. persimilis in response to whole-plant volatiles.
EXPERIMENTAL AND APPLIED ACAROLOGY
(2023)
Review
Endocrinology & Metabolism
Dominika Sitarska, Anna Tylki-Szymanska, Agnieszka Lugowska
Summary: Niemann-Pick type C (NPC) disease is a genetically determined neurodegenerative metabolic disease caused by impaired cholesterol transport. Treatment focuses on slowing disease progression, with the only registered drug being Miglustat.
METABOLIC BRAIN DISEASE
(2021)
Article
Neurosciences
Charlotte Laurfelt Munch Rasmussen, Louiza Bohn Thomsen, Christian Wurtz Heegaard, Torben Moos, Annette Burkhart
Summary: This study describes the neurovisceral pathology in the NPC2-deficient mouse model and evaluates its correlation to human NP-C2. The findings show that this model resembles the pathology seen in NP-C2 patients and is valuable for increasing the understanding of the complex disease manifestation and testing the efficacies of new treatment strategies.
MOLECULAR AND CELLULAR NEUROSCIENCE
(2023)
Article
Clinical Neurology
Tatiana Bremova-Ertl, Larry Abel, Mark Walterfang, Ettore Salsano, Anna Ardissone, Vera Malinova, Miriam Kolnikova, Jordi Gascon Bayarri, Ali Reza Tavasoli, Mahmoud Reza Ashrafi, Yasmina Amraoui, Eugen Mengel, Stefan A. Kolb, Andreas Brecht, Stanislavs Bardins, Michael Strupp
Summary: This study characterized ocular motor function in patients with Niemann-Pick disease type C (NPC) and identified vertical saccade palsy as a hallmark of the disease. Both upward and downward saccades were equally impaired, with potential parameters for clinical trials. Patients exhibited compensating strategies such as blinks to elicit saccades and head movements to overcome gaze palsy.
EUROPEAN JOURNAL OF NEUROLOGY
(2021)