Ingo Kurth
A5019536489- Hereditary Neurological Disorders
- Ion channel regulation and function
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Neurological diseases and metabolism
- Pain Mechanisms and Treatments
- Cellular transport and secretion
- Genetics and Neurodevelopmental Disorders
- Genetic Syndromes and Imprinting
- SARS-CoV-2 and COVID-19 Research
- Genetic Neurodegenerative Diseases
- Endoplasmic Reticulum Stress and Disease
- COVID-19 Clinical Research Studies
- Mitochondrial Function and Pathology
- Prenatal Screening and Diagnostics
- Neurogenetic and Muscular Disorders Research
- Cancer Genomics and Diagnostics
- Renal and related cancers
- Epigenetics and DNA Methylation
- Ion Transport and Channel Regulation
- RNA modifications and cancer
- Metabolism and Genetic Disorders
- Cardiac electrophysiology and arrhythmias
- Cytokine Signaling Pathways and Interactions
- Genetic factors in colorectal cancer
RWTH Aachen University
2016-2025
Universitätsklinikum Aachen
2016-2025
Centrum für Integrierte Onkologie
2024
Friedrich Schiller University Jena
2011-2023
Jena University Hospital
2011-2023
Institute of Human Genetics
2021-2022
Heinrich Heine University Düsseldorf
2021
Charité - Universitätsmedizin Berlin
2021
German Center for Lung Research
2021
Polish Academy of Sciences
2020
Fast and reliable detection of patients with severe heterogeneous illnesses is a major goal precision medicine1,2. Patients leukaemia can be identified using machine learning on the basis their blood transcriptomes3. However, there an increasing divide between what technically possible allowed, because privacy legislation4,5. Here, to facilitate integration any medical data from owner worldwide without violating laws, we introduce Swarm Learning-a decentralized machine-learning approach that...
Regulation of sodium balance is a critical factor in the maintenance euvolemia, and dysregulation renal excretion results disorders altered intravascular volume, such as hypertension. The amiloride-sensitive epithelial channel (ENaC) thought to be only mechanism for transport cortical collecting duct (CCD) kidney. However, it has been found that much absorption CCD actually amiloride insensitive sensitive thiazide diuretics, which also block Na-Cl cotransporter (NCC) located distal...
Abstract Thousands of genetic variants in protein-coding genes have been linked to disease. However, the functional impact most is unknown as they occur within intrinsically disordered protein regions that poorly defined functions 1–3 . Intrinsically can mediate phase separation and formation biomolecular condensates, such nucleolus 4,5 This suggests mutations proteins may alter condensate properties function 6–8 Here we show a subset disease-associated separation, cause mispartitioning into...
Membrane-shaping proteins characterized by reticulon homology domains play an important part in the dynamic remodelling of endoplasmic reticulum (ER). An example such a protein is FAM134B, which can bind LC3 and mediate degradation ER sheets through selective autophagy (ER-phagy)1. Mutations FAM134B result neurodegenerative disorder humans that mainly affects sensory autonomic neurons2. Here we report ARL6IP1, another ER-shaping contains domain associated with loss3, interacts participates...
Members of the SLC4 bicarbonate transporter family are involved in solute transport and pH homeostasis. Here we report that disrupting Slc4a10 gene, which encodes Na(+)-coupled Cl(-)-HCO(3)(-) exchanger (NCBE), drastically reduces brain ventricle volume protects against fatal epileptic seizures mice. In choroid plexus epithelial cells, localizes to basolateral membrane. These cells displayed a diminished recovery from an acid load KO also was expressed neurons. Within hippocampus, protein...
Familial Adult Myoclonic Epilepsy (FAME) is a genetically heterogeneous disorder characterized by cortical tremor and seizures. Intronic TTTTA/TTTCA repeat expansions in SAMD12 (FAME1) are the main cause of FAME Asia. Using genome sequencing repeat-primed PCR, we identify another site this expansion, MARCH6 (FAME3) four European families. Analysis single DNA molecules with nanopore molecular combing show that range from 3.3 to 14 kb on average. However, observe considerable variability...
Hereditary spastic paraplegia (HSP) is characterized by a dying back degeneration of corticospinal axons which leads to progressive weakness and spasticity the legs. SPG11 most common autosomal-recessive form HSPs caused mutations in SPG11. A recent vitro study suggested that Spatacsin, respective gene product, needed for recycling lysosomes from autolysosomes, process known as autophagic lysosome reformation. The relevance this observation hereditary paraplegia, however, has remained...
Many neurodegenerative disorders present with sensory loss. In the group of hereditary and autonomic neuropathies loss nociception is one disease hallmarks. To determine underlying factors neurodegeneration we performed whole-exome sequencing in affected individuals disorder. a family neuropathy pain perception destruction pedal skeleton report missense mutation highly conserved amino acid residue atlastin GTPase 3 (ATL3), an endoplasmic reticulum-shaping GTPase. The same (p.Tyr192Cys) was...
BackgroundSmall fiber neuropathy (SFN) is a severe and disabling chronic pain syndrome with no causal limited symptomatic treatment options. Mechanistically based individual not available. We report an in-vitro predicted individualized success in one therapy-refractory Caucasian patient suffering from SFN for over ten years.MethodsIntrinsic excitability of human induced pluripotent stem cell (iPSC) derived nociceptors this respective controls were recorded on multi-electrode (MEA) arrays,...
BACKGROUND. Sphingolipids are important components of cellular membranes and functionally associated with fundamental processes such as cell differentiation, neuronal signaling, myelin sheath formation. Defects in the synthesis or degradation sphingolipids leads to various neurological pathologies; however, entire spectrum sphingolipid metabolism disorders remains elusive.
Neuronal activity results in significant pH shifts neurons, glia, and interstitial space. Several transport mechanisms are involved the fine-tuning regulation of extra- intracellular pH. The sodium-independent electroneutral anion exchangers (AEs) exchange bicarbonate for extracellular chloride thereby lower Recently, a association was found with variant Ala867Asp exchanger AE3, which is predominantly expressed brain heart, large cohort patients idiopathic generalized epilepsy. To analyze...
The Na + concentration of the intracellular milieu is very low compared with extracellular medium. Transport along this gradient used to fuel secondary transport many solutes, and thus plays a major role for most cell functions including control volume resting membrane potential. Because continuous leak, has be permanently removed from milieu, process that thought exclusively mediated by /K -ATPase in animal cells. Here, we show intercalated cells mouse kidney are an exception general rule....
Hereditary spastic paraplegias (HSPs) are characterized by progressive weakness and spasticity of the legs because degeneration cortical motoneuron axons. SPG15 is a recessively inherited HSP variant caused mutations in ZFYVE26 gene additionally cerebellar ataxia, mental decline, thinning corpus callosum. encodes FYVE domain-containing protein ZFYVE26/SPASTIZIN, which has been suggested to be associated with newly discovered adaptor 5 (AP5) complex. We show that Zfyve26 broadly expressed...
<h3>Background</h3> Split-hand/foot malformation (SHFM)—also known as ectrodactyly—is a congenital disorder characterised by severe malformations of the distal limbs affecting central rays hands and/or feet. A distinct entity termed SHFLD presents with SHFM and long bone deficiency. Mouse models suggest that defect apical ectodermal ridge leads to phenotype. Although six different loci/mutations (SHFM1–6) have been associated SHFM, underlying cause in large number cases is still unresolved....
The distal hereditary motor neuropathies (dHMNs) are a heterogeneous group of neurodegenerative disorders affecting the lower motoneuron. In family with both autosomal-dominant dHMN and type V (dHMN/dHMN-V) present in three generations, we excluded mutations all genes known to be associated phenotype through Sanger sequencing defined potential loci linkage analysis. Whole-exome two affected individuals revealed single candidate variant within linking regions, i.e., splice-site alteration...