Jochen Dobner
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View article: CRISPR/Cas9-mediated editing of MIC13 in human induced pluripotent stem cells: A model for mitochondrial hepato-encephalopathy
CRISPR/Cas9-mediated editing of MIC13 in human induced pluripotent stem cells: A model for mitochondrial hepato-encephalopathy Open
MIC13 is essential for cristae formation and functions as a key component of the large mitochondrial multi subunit MICOS complex. Mutations in MIC13 causes severe mitochondrial disease called mitochondrial hepato-encephalopathy. In this st…
View article: Reprogramming Patient-Derived urine cells into iPSCs for Anti-GAD65 autoimmune encephalitis research
Reprogramming Patient-Derived urine cells into iPSCs for Anti-GAD65 autoimmune encephalitis research Open
View article: Integrated phenotypic and transcriptomic characterization of desmin-related cardiomyopathy in hiPSC-derived cardiomyocytes and machine learning-based classification of disease features
Integrated phenotypic and transcriptomic characterization of desmin-related cardiomyopathy in hiPSC-derived cardiomyocytes and machine learning-based classification of disease features Open
Desmin-related diseases are characterized by skeletal muscle weakness, cardiomyopathy, and respiratory dysfunction due to mutations in the desmin gene (DES), which encodes a protein essential for muscle cell integrity. This study investiga…
View article: CRISPR/Cas9-mediated editing of VHL in induced pluripotent stem cells: A model for early cell fate in von Hippel-Lindau syndrome
CRISPR/Cas9-mediated editing of VHL in induced pluripotent stem cells: A model for early cell fate in von Hippel-Lindau syndrome Open
View article: Vδ1 T Cells Integrated in Full-Thickness Skin Equivalents: A Model for the Role of Human Skin–Resident γδT Cells
Vδ1 T Cells Integrated in Full-Thickness Skin Equivalents: A Model for the Role of Human Skin–Resident γδT Cells Open
Vδ1 T cells are a subpopulation of γδT cells found in human dermis. Much less is known regarding their role and function in skin health and disease than regarding the roles of murine skin-resident γδT cells. In this study, we report the su…
View article: Reassessment of marker genes in human induced pluripotent stem cells for enhanced quality control
Reassessment of marker genes in human induced pluripotent stem cells for enhanced quality control Open
Human induced pluripotent stem cells (iPSCs) have great potential in research, but pluripotency testing faces challenges due to non-standardized methods and ambiguous markers. Here, we use long-read nanopore transcriptome sequencing to dis…
View article: Vitiligo auto‐immune response upon oxidative stress‐related mitochondrial DNA release opens up new therapeutic strategies
Vitiligo auto‐immune response upon oxidative stress‐related mitochondrial DNA release opens up new therapeutic strategies Open
International audience
View article: CRISPR/Cas9-mediated editing of ACTB in induced pluripotent stem cells: A model for investigating human ACTB loss-of-function and genetic adaptive responses
CRISPR/Cas9-mediated editing of ACTB in induced pluripotent stem cells: A model for investigating human ACTB loss-of-function and genetic adaptive responses Open
View article: Saharan dust induces the lung disease-related cytokines granulocyte–macrophage colony-stimulating factor and granulocyte colony-stimulating factor
Saharan dust induces the lung disease-related cytokines granulocyte–macrophage colony-stimulating factor and granulocyte colony-stimulating factor Open
Desert dust exposure is associated with adverse respiratory health effects. Desert dust is a complex pollutant mixtures that includes respirable crystalline and amorphous particles, metals, and microbial constituents. Given the health effe…
View article: mtDNA analysis using Mitopore
mtDNA analysis using Mitopore Open
Mitochondrial DNA (mtDNA) analysis is crucial for the diagnosis of mitochondrial disorders, forensic investigations, and basic research. Existing pipelines are complex, expensive, and require specialized personnel. In many cases, including…
View article: Mitochondrial DNA integrity and metabolome profile are preserved in the human induced pluripotent stem cell reference line KOLF2.1J
Mitochondrial DNA integrity and metabolome profile are preserved in the human induced pluripotent stem cell reference line KOLF2.1J Open
View article: Verbesserte humane induzierte pluripotente Stammzellen
Verbesserte humane induzierte pluripotente Stammzellen Open
View article: Prime-Editing of human ACTB in induced pluripotent stem cells to model human ACTB Loss-of-Function diseases and compensatory mechanisms
Prime-Editing of human ACTB in induced pluripotent stem cells to model human ACTB Loss-of-Function diseases and compensatory mechanisms Open
Beta-actin (ACTB) heterozygous loss-of-function mutations are associated with pleiotropic developmental disorders entailing intellectual disability and frequent organ malformations in affected individuals. We generated two CRISPR/Cas9 prim…
View article: Saharan dust induces NLRP3-dependent inflammatory cytokines in an alveolar air-liquid interface co-culture model
Saharan dust induces NLRP3-dependent inflammatory cytokines in an alveolar air-liquid interface co-culture model Open
Background Epidemiological studies have related desert dust events to increased respiratory morbidity and mortality. Although the Sahara is the largest source of desert dust, Saharan dust (SD) has been barely examined in toxicological stud…
View article: Moderne Sequenzierungstechnologien und ihre Anwendungen
Moderne Sequenzierungstechnologien und ihre Anwendungen Open
CRISPR-mediated genome editing enables to study disease-relevant mutations. Next Generation Sequencing offers high throughput and accuracy but requires substantial investment. Nanopore sequencing on the other hand provides cheap entry. Her…
View article: Generation of an induced pluripotent stem cell line (IUFi002-A) from a Leigh syndrome patient carrying mutations in the NDUFS1 gene
Generation of an induced pluripotent stem cell line (IUFi002-A) from a Leigh syndrome patient carrying mutations in the NDUFS1 gene Open
View article: Genome Editing in Translational Medicine: An Inventory
Genome Editing in Translational Medicine: An Inventory Open
Genomic mutations are the driving force of biological diversity but they are also the cause of a plethora of human diseases ranging from heritable disorders to neurological pathologies and cancer. For most genetic disorders, there is no cu…
View article: Lack of GABARAP-Type Proteins Is Accompanied by Altered Golgi Morphology and Surfaceome Composition
Lack of GABARAP-Type Proteins Is Accompanied by Altered Golgi Morphology and Surfaceome Composition Open
GABARAP (γ-aminobutyric acid type A receptor-associated protein) and its paralogues GABARAPL1 and GABARAPL2 comprise a subfamily of autophagy-related Atg8 proteins. They are studied extensively regarding their roles during autophagy. Origi…
View article: Apolipoprotein A5 controls fructose-induced metabolic dysregulation in mice
Apolipoprotein A5 controls fructose-induced metabolic dysregulation in mice Open
ApoA5 is involved in fructose-induced metabolic dysregulation and associated hepatic steatosis suggesting that apoA5 may be a novel target to treat metabolic diseases.
View article: Deficiency of GABARAP but Not Its Paralogs Causes Enhanced EGF-Induced EGFR Degradation
Deficiency of GABARAP but Not Its Paralogs Causes Enhanced EGF-Induced EGFR Degradation Open
The γ-aminobutyric acid type A receptor-associated protein (GABARAP) and its close paralogs GABARAPL1 and GABARAPL2 constitute a subfamily of the autophagy-related 8 (Atg8) protein family. Being associated with a variety of dynamic membran…
View article: Author Correction: The highly GABARAP specific rat monoclonal antibody 8H5 visualizes GABARAP in immunofluorescence imaging at endogenous levels
Author Correction: The highly GABARAP specific rat monoclonal antibody 8H5 visualizes GABARAP in immunofluorescence imaging at endogenous levels Open
View article: The highly GABARAP specific rat monoclonal antibody 8H5 visualizes GABARAP in immunofluorescence imaging at endogenous levels
The highly GABARAP specific rat monoclonal antibody 8H5 visualizes GABARAP in immunofluorescence imaging at endogenous levels Open
View article: Metabolic effects of reduced growth hormone action in fatty liver disease
Metabolic effects of reduced growth hormone action in fatty liver disease Open