Results 71 to 80 of about 1,386 (148)

GDC: Integration of Multi‐Omic and Phenotypic Resources to Unravel the Genetic Pathogenesis of Hearing Loss

Advanced Science, Volume 12, Issue 29, August 7, 2025.
Overview of the Genetic Deafness Commons (GDC), integrating data from the Chinese Deafness Genetics Consortium (CDGC) and 51 public databases. The GDC provides tools for variant search, functional predictions, and gene‐disease visualization, offering insights into 201 hearing loss genes and facilitating novel gene discovery and clinical applications ...
Hui Cheng, Xuegang Wang, Mingjun Zhong, Jia Geng, Wenjian Li, Kanglu Pei, Jing Wang, Lanchen Wang, Yu Lu, Jing Cheng, Fengxiao Bu, Huijun Yuan   +11 more
wiley   +1 more source

(Apo)Lipoprotein Profiling with Multi‐Omics Analysis Identified Medium‐HDL‐Targeting PSRC1 with Therapeutic Potential for Coronary Artery Disease

Advanced Science, Volume 12, Issue 15, April 17, 2025.
Lipid content in medium high‐density lipoprotein (HDL) particles, particularly cholesteryl esters, is identified as causally protective of atherosclerosis, and further ASCVD. Evidence from multi‐omics layers of data consistently supports PSRC1 with therapeutic potential for coronary artery disease (CAD), but not ischemic stroke.
Yingmei Li, Sihan Wang, Ling Liu, Hao Cai, Yacan Huang, Mingjing Gao, Xiaogang Zhang, Qingqing Wu, Gaokun Qiu   +8 more
wiley   +1 more source

A proteomic atlas of glypican‐3 interacting partners: Identification of alpha‐fetoprotein and other extracellular proteins as potential immunotherapy targets in liver cancer

Proteoglycan Research, Volume 2, Issue 4, October-December 2024.
Abstract Antibody and cell‐based therapeutics targeting cell surface receptors have emerged as a major class of immune therapeutics for treating cancer. However, the number of cell surface targets for cancer immunotherapy remains limited. Glypican‐3 (GPC3) is a cell surface proteoglycan and an oncofetal antigen.
Yi‐Fan Zhang, Shaoli Lin, Zhen Xiao, Mitchell Ho   +3 more
wiley   +1 more source

GABA promotes peroxisome proliferation in Triticum monococcum leaves

Plant Direct, Volume 8, Issue 10, October 2024.
Abstract Although peroxisomes are integral for both primary and secondary metabolism, how developmental changes affect activity of peroxisomes remains poorly understood. Here, we used published RNA‐seq data to analyze the expression patterns of genes encoding 21 peroxisome metabolic pathways at successive developmental stages of Zea mays and Oryza ...
Yunus Şahin, Taras Nazarov, Ercan Selçuk Ünlü, Andrei Smertenko, Nusret Zencrici   +4 more
wiley   +1 more source

Structure of the peroxisomal Pex1/Pex6 ATPase complex bound to a substrate

The double-ring AAA+ ATPase Pex1/Pex6 is required for peroxisomal receptor recycling and is essential for peroxisome formation. Pex1/Pex6 mutations cause severe peroxisome associated developmental disorders.
Lill, P. (Pascal), Rüttermann, M. (Maximilian), Klink, B.U. (Björn), Koci, M. (Michelle), Kaschani, F. (Farnusch), Gatsogiannis, C. (Christos), Erdmann, R. (Ralf), Geladas, E.D. (Ermis)   +7 more
core   +1 more source

Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM)

, 2020
International audiencePerrault syndrome is a rare heterogeneous condition characterised by sensorineural hearing loss and premature ovarian insufficiency. Additional neuromuscular pathology is observed in some patients.
Travessa, Andre, Sampaio, Lurdes, Dulon, Jerome, Whalen, Sandra, Isapof, Arnaud, Stojkovic, Tanya, Robevska, Gorjana, Dupont, Juliette, Thorburn, David R., Jaillard, Sylvie, Rius, Rocio, Vuillaumier-Barrot, Sandrine, Ayers, Katie, Christodoulou, John, Tucker, Elena J., Sinclair, Andrew H., Quijano-Roy, Susana, Hanna, Chloe, van den Bergen, Jocelyn, Lamont, Phillipa J., Simpson, Andrea, Touraine, Philippe, Bell, Katrina   +22 more
core   +1 more source

Molecular interactions of the human PEX1/PEX6 AAA+ ATPase complex and in vivo mRNA editing of the PEX1-G843D mutation [PDF]

Peroxisomes, ubiquitous and highly dynamic organelles in eukaryotic cells, are crucial for human health and development. They are needed for oxidative metabolic processes, including the breakdown of fatty acids and the regulation of the cellular redox ...
Pandey, Saroj
core   +1 more source

A novel splice variant in intron 10 of PEX6 is associated with Zellweger Syndrome in a Chinese neonate

Gene
Zellweger Syndrome (ZS), or cerebrohepatorenal syndrome, is a rare disorder due to PEX gene mutations affecting peroxisome function. While PEX6 coding mutations are known to cause ZS, the impact of noncoding mutations is less clear.A Chinese neonate and his family were subjected to whole exome sequencing (WES) and bioinformatics to assess variant ...
Pin, Yang, Weihong, Zhang, Lingkong, Zeng, Xuwei, Tao, Kaiwei, Ding, Zuo, Wang   +5 more
openaire   +2 more sources

Mechanistic Analyses of Peroxisome-Related AAA+ Motors [PDF]

, 2020
AAA+ ATPases hydrolyze ATP to perform diverse cellular functions. While these complex machines have been the subject of biochemical studies for years, the details on what these motors contribute to cellular processes, how these motors perform work on ...
Castanzo, Dominic
core   +1 more source

Identification and characterization of three peroxins—PEX6, PEX10 and PEX12—involved in glycosome biogenesis in Trypanosoma brucei

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, 2006
Protozoan Kinetoplastida such as the pathogenic trypanosomes compartmentalize several important metabolic systems, including the glycolytic pathway, in peroxisome-like organelles designated glycosomes. Genes for three proteins involved in glycosome biogenesis of Trypanosoma brucei were identified.
Krazy, Hanane, Michels, Paul A.M.
openaire   +2 more sources