Lena K. Ebert
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View article: #2593 The nephronophthisis protein GLIS2/NPHP7 is required for the DNA damage response in kidney tubular epithelial cells
#2593 The nephronophthisis protein GLIS2/NPHP7 is required for the DNA damage response in kidney tubular epithelial cells Open
Background and Aims The autosomal-recessive cystic kidney disease nephronophthisis (NPH) is the leading genetic cause of end-stage kidney failure in children and adolescents, caused by genetic variants in >20 NPHP genes. While nearly al…
View article: The nephronophthisis protein <i>GLIS2</i> / <i>NPHP7</i> is required for the DNA damage response in kidney tubular epithelial cells
The nephronophthisis protein <i>GLIS2</i> / <i>NPHP7</i> is required for the DNA damage response in kidney tubular epithelial cells Open
Nephronophthisis (NPH) is a pediatric cystic kidney disease and ciliopathy. We present a novel Glis2/Nphp7-deficient mouse model that shows early accumulation of DNA damage before detectable kidney dysfunction. The GLIS2 protein complex in…
View article: The nephronophthisis protein <i>GLIS2</i>/<i>NPHP7</i> is required for the DNA damage response in kidney tubular epithelial cells
The nephronophthisis protein <i>GLIS2</i>/<i>NPHP7</i> is required for the DNA damage response in kidney tubular epithelial cells Open
Nephronophthisis (NPH) is an autosomal-recessive cystic kidney disease representing the most frequent genetic cause of end-stage kidney failure in children and adolescents. NPH is caused by genetic variants in >20 NPHP genes. While nearly …
View article: Loss of Bbs8 leads to cystic kidney disease in mice with reduced acetylation of ciliary alpha-tubulin through HDAC2
Loss of Bbs8 leads to cystic kidney disease in mice with reduced acetylation of ciliary alpha-tubulin through HDAC2 Open
Primary cilia dysfunction underlies a group of severe disorders known as ciliopathies. These include Bardet-Biedl syndrome (BBS), which is caused by mutations in BBS genes encoding for components of ciliary protein complexes essential for …
View article: Primary cilia suppress Ripk3-mediated necroptosis
Primary cilia suppress Ripk3-mediated necroptosis Open
Cilia are sensory organelles that project from the surface of almost all cells. Nephronophthisis (NPH) and NPH-related ciliopathies are degenerative genetic diseases caused by mutation of cilia-associated genes. These kidney disorders are …
View article: Modifying PCDH19 levels affects cortical interneuron migration
Modifying PCDH19 levels affects cortical interneuron migration Open
PCDH19 is a transmembrane protein and member of the protocadherin family. It is encoded by the X-chromosome and more than 200 mutations have been linked to the neurodevelopmental PCDH-clustering epilepsy (PCDH19-CE) syndrome. A disturbed c…
View article: JADE family proteins regulate proteasome abundance and activity
JADE family proteins regulate proteasome abundance and activity Open
The JADE protein family (JADE1/2/3) has been implicated in a broad range of cellular functions, including WNT signaling, cell cycle control, regulated cell death, and transcriptional regulation through histone acetyltransferase complexes. …
View article: GFAT2 and AMDHD2 act in tandem to control the hexosamine biosynthetic pathway
GFAT2 and AMDHD2 act in tandem to control the hexosamine biosynthetic pathway Open
The hexosamine biosynthetic pathway (HBP) produces the essential metabolite UDP-GlcNAc and plays a key role in metabolism, cancer, and aging. The HBP is controlled by its rate-limiting enzyme glutamine fructose-6-phosphate amidotransferase…
View article: Identification of Acer2 as a First Susceptibility Gene for Lithium-Induced Nephrogenic Diabetes Insipidus in Mice
Identification of Acer2 as a First Susceptibility Gene for Lithium-Induced Nephrogenic Diabetes Insipidus in Mice Open
Significance Statement Lithium causes nephrogenic diabetes insipidus and hypercalcemia in 20% and 10% of patients, respectively, and may lead to metabolic acidosis. To determine the potential role of genetic predisposition in these adverse…
View article: Ex Post Evaluation of a Learning Factory – Competence Development Based on Graduates Feedback
Ex Post Evaluation of a Learning Factory – Competence Development Based on Graduates Feedback Open
The problem-based and project-oriented learning factory format of the bachelor's programme "Manufacturing and Operations Management" at Heilbronn University of Applied Sciences was recently evaluated. The research aimed at answering the qu…
View article: Mesoporous Silica-gold Films for Straightforward, Highly Reproducible Monitoring of Mercury Traces in Water
Mesoporous Silica-gold Films for Straightforward, Highly Reproducible Monitoring of Mercury Traces in Water Open
Trace-level detection of mercury in waters is connected with several complications including complex multistep analysis routines, applying additional, harmful reagents increasing the risk of contamination, and the need for expensive analys…
View article: An optimized electroporation approach for efficient CRISPR/Cas9 genome editing in murine zygotes
An optimized electroporation approach for efficient CRISPR/Cas9 genome editing in murine zygotes Open
Electroporation of zygotes represents a rapid alternative to the elaborate pronuclear injection procedure for CRISPR/Cas9-mediated genome editing in mice. However, current protocols for electroporation either require the investment in spec…
View article: An optimized electroporation approach for efficient CRISPR/Cas9 genome editing in murine zygotes
An optimized electroporation approach for efficient CRISPR/Cas9 genome editing in murine zygotes Open
Electroporation of zygotes represents a rapid alternative to the elaborate pronuclear injection procedure for CRISPR/Cas9-mediated genome editing in mice. However, current protocols for electroporation either require the investment in spec…