Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans
Next-generation sequencing technology has rapidly accelerated the discovery of genetic
variants of interest in individuals with rare diseases. However, showing that these variants …
variants of interest in individuals with rare diseases. However, showing that these variants …
The Caenorhabditis elegans Transgenic Toolbox
J Nance, C Frøkjær-Jensen - Genetics, 2019 - academic.oup.com
The power of any genetic model organism is derived, in part, from the ease with which gene
expression can be manipulated. The short generation time and invariant developmental …
expression can be manipulated. The short generation time and invariant developmental …
ATP13A2 deficiency disrupts lysosomal polyamine export
S van Veen, S Martin, C Van den Haute, V Benoy… - Nature, 2020 - nature.com
Abstract ATP13A2 (PARK9) is a late endolysosomal transporter that is genetically implicated
in a spectrum of neurodegenerative disorders, including Kufor-Rakeb syndrome—a …
in a spectrum of neurodegenerative disorders, including Kufor-Rakeb syndrome—a …
Regulation of lifespan by neural excitation and REST
The mechanisms that extend lifespan in humans are poorly understood. Here we show that
extended longevity in humans is associated with a distinct transcriptome signature in the …
extended longevity in humans is associated with a distinct transcriptome signature in the …
The million mutation project: a new approach to genetics in Caenorhabditis elegans
O Thompson, M Edgley, P Strasbourger… - Genome …, 2013 - genome.cshlp.org
We have created a library of 2007 mutagenized Caenorhabditis elegans strains, each
sequenced to a target depth of 15-fold coverage, to provide the research community with …
sequenced to a target depth of 15-fold coverage, to provide the research community with …
Loss-of-function genetic tools for animal models: cross-species and cross-platform differences
BE Housden, M Muhar, M Gemberling… - Nature Reviews …, 2017 - nature.com
Our understanding of the genetic mechanisms that underlie biological processes has relied
extensively on loss-of-function (LOF) analyses. LOF methods target DNA, RNA or protein to …
extensively on loss-of-function (LOF) analyses. LOF methods target DNA, RNA or protein to …
A pH-correctable, DNA-based fluorescent reporter for organellar calcium
It is extremely challenging to quantitate lumenal Ca2+ in acidic Ca2+ stores of the cell
because all Ca2+ indicators are pH sensitive, and Ca2+ transport is coupled to pH in acidic …
because all Ca2+ indicators are pH sensitive, and Ca2+ transport is coupled to pH in acidic …
On the benefits of the tryptophan metabolite 3-hydroxyanthranilic acid in Caenorhabditis elegans and mouse aging
H Dang, R Castro-Portuguez, L Espejo… - Nature …, 2023 - nature.com
Tryptophan metabolism through the kynurenine pathway influences molecular processes
critical to healthy aging including immune signaling, redox homeostasis, and energy …
critical to healthy aging including immune signaling, redox homeostasis, and energy …
Adaptive F-actin polymerization and localized ATP production drive basement membrane invasion in the absence of MMPs
Matrix metalloproteinases (MMPs) are associated with decreased patient prognosis but
have failed as anti-invasive drug targets despite promoting cancer cell invasion. Through …
have failed as anti-invasive drug targets despite promoting cancer cell invasion. Through …
Neuronal TORC1 modulates longevity via AMPK and cell nonautonomous regulation of mitochondrial dynamics in C. elegans
Target of rapamycin complex 1 (TORC1) and AMP-activated protein kinase (AMPK)
antagonistically modulate metabolism and aging. However, how they coordinate to …
antagonistically modulate metabolism and aging. However, how they coordinate to …