Results 41 to 50 of about 7,315 (135)

Yeast Knockout Strain Collection: Driving Functional Genomics, Biotechnological Applications and Human Disease Research

Yeast, EarlyView.
ABSTRACT The knockout strain collection of Saccharomyces cerevisiae has served as a valuable resource for functional genomics and yeast‐based biotechnology studies. A comprehensive single‐gene knockout strain collection, covering nearly all non‐essential genes, together with complementary mutant collections for essential genes, including temperature ...
Takashi Hirasawa
wiley   +1 more source

Genetic testing in paediatric neurological disorders

Developmental Medicine &Child Neurology, EarlyView.
In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba, Byoung Chan Lee, Shekeeb S. Mohammad, Katrina Fisk, Michael Buckley, Russell C. Dale, Tony Roscioli, Paediatric Neurogenomic Working Group, Manoj P. Menezes, Sachin Gupta, Christopher Troedson, Esther Tantsis, Richard Webster, Bruce Bennetts, Deepak Gill, Kavitha Kothur   +15 more
wiley   +1 more source

The role of the Niemann-Pick disease, type C1 protein in adipocyte insulin action. [PDF]

PLoS ONE, 2014
The Niemann-Pick disease, type C1 (NPC1) gene encodes a transmembrane protein involved in cholesterol efflux from the lysosome. SNPs within NPC1 have been associated with obesity and type 2 diabetes, and mice heterozygous or null for NPC1 are insulin ...
Rachael Fletcher, Christopher Gribben, Xiuquan Ma, James G Burchfield, Kristen C Thomas, James R Krycer, David E James, Daniel J Fazakerley   +7 more
doaj   +1 more source

Defective iron homeostasis and hematological abnormalities in Niemann-Pick disease type C1 [version 2; peer review: 2 approved]

Wellcome Open Research, 2023
Background: Niemann-Pick disease type C1 (NPC1) is a neurodegenerative lysosomal storage disorder characterized by the accumulation of multiple lipids in the late endosome/lysosomal system and reduced acidic store calcium.
David A Smith, Elena-Raluca Nicoli, Oscar C W Chen, Alexandria Colaco, Stephan Siebel, Stephanie Newman, Dawn Shepherd, Nicole Y Farhat, Andrew E Armitage, Claire Smith, George Seligmann, Mylvaganam Jeyakumar, Alaa Abdul-Sada, Forbes D Porter, Hal Drakesmith, Frances M Platt, Nick Platt   +16 more
doaj   +1 more source

Malaria mosquito antimicrobial defence requires immunity and detoxification gene regulation by Lola

Insect Molecular Biology, Volume 35, Issue 5, Page 576-593, October 2026.
Malaria mosquito antimicrobial defence requires upregulation of lola. Attenuation of lola in the midgut of Anopheles albimanus mosquitoes inhibits the upregulation of immunity genes induced by challenge. Putative target genes of the Lola transcription factor were revealed by lola attenuation, including Cecropin‐C, Draper, PPAF2, Clip‐domain serine ...
Heidi Espadas‐Álvarez, Verónica Valverde‐Garduño   +1 more
wiley   +1 more source

Genomic Structure Predicts Granulovirus Resistance Without a Detectable Life‐History Trade‐Off in Plodia interpunctella

Molecular Ecology, Volume 35, Issue 19, October 2026.
ABSTRACT Understanding the genetic architecture of pathogen resistance and its relationship to host life‐history traits is a fundamental problem in evolutionary biology, yet the conditions under which resistance costs manifest as detectable trade‐offs remain poorly understood.
P. Signe White, Johnathan Lo, Jonathan Barajas, Hailey Burnsed, Noah Parker, Zucel Rodriguez, Natalie Walzer, Peter H. Sudmant, Mike Boots   +8 more
wiley   +1 more source

The Niemann-Pick C1 gene is downregulated by feedback inhibition of the SREBP pathway in human fibroblasts*

Journal of Lipid Research, 2008
The Niemann-Pick C1 (NPC1) protein regulates the transport of cholesterol from late endosomes/lysosomes to other compartments responsible for maintaining intracellular cholesterol homeostasis.
William S. Garver, David Jelinek, Gordon A. Francis, Bruce D. Murphy   +3 more
doaj   +1 more source

Reciprocal control of viral infection and phosphoinositide dynamics

FEBS Letters, Volume 600, Issue 17, Page 2526-2546, September 2026.
Phosphoinositides, although scarce, regulate key cellular processes, including membrane dynamics and signaling. Viruses exploit these lipids to support their entry, replication, assembly, and egress. The central role of phosphoinositides in infection highlights phosphoinositide metabolism as a promising antiviral target.
Marie Déborah Bancilhon, Bruno Mesmin
wiley   +1 more source

Gene Correction Enhances Dopaminergic Cell Therapy in a Nonhuman Primate Model of Parkinson's Disease

Advanced Science, Volume 13, Issue 54, 28 September 2026.
LRRK2‐mutant induced pluripotent stem cells (iPSCs) were derived from a patient with Parkinson's disease (PD). Using CRISPR/Cas9–mediated gene editing, the pathogenic LRRK2 mutations were precisely corrected, and isogenic dopaminergic neural progenitor cells (DA‐NPCs) were subsequently generated.
Qing Yan, Chongchong Xu, Jiangmei Gao, Pu Wang, Qingling Wu, Ying Jin, Binyan Lu, Mu Li, Mingting Shao, Bihai Li, Zhenghui Su, Yijng Zhang, Jianhuan Chen, Haojie An, Mengyao Huang, Xiaoji Zhuang, Yuhui Shen, Fenglin Wang, Nana Xu, Yiyan Liu, Lei Tang, Xiuling Zhong, Minyan Zhong, Jiecong Chen, Zhenhuang Wang, Xingrong Luo, Sheng Liu, RuiFeng Liu, Ling Zhang, Junhua Rao   +29 more
wiley   +1 more source

A therapy with miglustat, 2-hydroxypropyl-ß-cyclodextrin and allopregnanolone restores splenic cholesterol homeostasis in Niemann-pick disease type C1

Lipids in Health and Disease, 2019
Background Niemann-Pick disease type C1 (NPC1) is an autosomal-recessive lipid-storage disorder with an estimated minimal incidence of 1/120,000 live births. Besides other neuronal and visceral symptoms, NPC1 patients develop spleen dysfunction, isolated
Anna-Maria Neßlauer, Anne Gläser, Markus Gräler, Robby Engelmann, Brigitte Müller-Hilke, Marcus Frank, Christine Burstein, Arndt Rolfs, John Neidhardt, Andreas Wree, Martin Witt, Anja U. Bräuer   +11 more
doaj   +1 more source