A5013481773- Migraine and Headache Studies
- RNA Research and Splicing
- Ion channel regulation and function
- Genomics and Rare Diseases
- Neuroscience of respiration and sleep
- Genetics and Neurodevelopmental Disorders
- RNA regulation and disease
- DNA Repair Mechanisms
- Hearing, Cochlea, Tinnitus, Genetics
- Nuclear Structure and Function
- Neurogenetic and Muscular Disorders Research
- Parkinson's Disease Mechanisms and Treatments
- Cardiac electrophysiology and arrhythmias
- Mitochondrial Function and Pathology
- Connective tissue disorders research
- RNA modifications and cancer
- Genomic variations and chromosomal abnormalities
- Amyotrophic Lateral Sclerosis Research
- Connexins and lens biology
- RNA and protein synthesis mechanisms
- Genetic factors in colorectal cancer
- Genetic Neurodegenerative Diseases
- Genomics and Chromatin Dynamics
- Caveolin-1 and cellular processes
- Cardiomyopathy and Myosin Studies
University Medical Center Hamburg-Eppendorf
2016-2025
Universität Hamburg
2016-2025
Oslo University Hospital
2023
Brigham and Women's Hospital
2023
Centre for Biomedical Network Research on Rare Diseases
2023
Universitat de Barcelona
2023
Vall d'Hebron Institut de Recerca
2023
University of Amsterdam
2023
Baylor College of Medicine
2023
American College of Medical Genetics
2023
Benign familial neonatal convulsions (BFNC) is an autosomal dominant epilepsy of infancy, with loci mapped to human chromosomes 20q13.3 and 8q24. By positional cloning, a potassium channel gene ( KCNQ2 ) located on was isolated found be expressed in brain. Expression frog Xenopus laevis oocytes led potassium-selective currents that activated slowly depolarization. In large pedigree BFNC, five–base pair insertion would delete more than 300 amino acids from the carboxyl terminus. mutant did...
Potassium channels regulate electrical signaling and the ionic composition of biological fluids. Mutations in three known genes KCNQ branch K+ channel gene family underlie inherited cardiac arrhythmias (in some cases associated with deafness) neonatal epilepsy. We have now cloned KCNQ4, a novel member this branch. It maps to DFNA2 locus for form nonsyndromic dominant deafness. In cochlea, it is expressed sensory outer hair cells. A mutation pedigree changes residue KCNQ4 pore region....
<h3>Objectives</h3> Biomarkers for the diagnosis of motoneuron diseases (MND) are urgently needed to improve diagnostic pathway, patient stratification and monitoring. The aim this study was validate candidate markers MND in cerebrospinal fluid (CSF) specify cut-offs based on large cohorts by especially considering patients who were seen under initial differential (MND mimics). <h3>Methods</h3> In a prospective study, we investigated CSF 455 neurofilament light chain (NfL), phosphorylated...
Heterozygous missense mutations in the N-terminal motor or coiled-coil domains of kinesin family member 5A (KIF5A) gene cause monogenic spastic paraplegia (HSP10) and Charcot-Marie-Tooth disease type 2 (CMT2). Moreover, heterozygous de novo frame-shift C-terminal domain KIF5A are associated with neonatal intractable myoclonus, a neurodevelopmental syndrome. These findings, together observation that many genes amyotrophic lateral sclerosis disrupt cytoskeletal function intracellular...
Abstract Dietary polyunsaturated fatty acids (PUFA) are increasingly recognized for their health benefits, whereas a high production of endogenous – process called de novo lipogenesis (DNL) - is closely linked to metabolic diseases. Determinants PUFA incorporation into complex lipids insufficiently understood and may influence the onset progression Here we show that acid synthase (FASN), key enzyme DNL, critically determines use dietary in mice humans. Moreover, combination FASN inhibition...
KCNQ2 and KCNQ3, both of which are mutated in a type human neonatal epilepsy, form heteromeric potassium channels that expressed broad regions the brain. The associated current may be identical to M-current, an important regulator neuronal excitability. We now show RNA encoding novel KCNQ5 channel is also brain sympathetic ganglia where it overlaps largely with KCNQ3. In addition, skeletal muscle. yields currents activate slowly depolarization can Currents from have voltage dependences...
Although the gene defects for several mouse mutants with severe osteopetrosis are known, genes underlying human infantile malignant recessive remain elusive. Osteopetrosis is thought to be caused by a defect in osteoclast function. These cells degrade bone material tightly sealed extracellular compartment that acidified vacuolar (V)-type H+-ATPase. Genes encoding components of acidification machinery candidate osteopetrosis. In five ten patients osteopetrosis, we now demonstrate different...
Osteoporosis is one of the most common degenerative diseases. It characterized by reduced bone mineral density (BMD) with an increased risk for fractures. There a substantial genetic contribution to BMD, although factors involved in pathogenesis human osteoporosis are largely unknown. Mice targeted deletion either cannabinoid receptor type 1 (Cnr1) or 2 (Cnr2) gene show alteration mass, and pharmacological modification both receptors can regulate osteoclast activity BMD. We therefore...
The inherited long QT syndrome (LQTS), characterized by a prolonged interval in the electrocardiogram and cardiac arrhythmia, is caused mutations at least four different genes, three of which have been identified encode ion channels. most common form LQTS due to potassium channel gene KvLQT1, but their effects on associated currents are still unknown. Different KvLQT1 cause dominant Romano-Ward (RW) recessive Jervell Lange-Nielsen (JLN) syndrome, which, addition abnormalities, includes...
Pitt-Hopkins syndrome (PHS) is a rare syndromic mental disorder, which mainly characterized by severe motor and retardation including absent language development, characteristic facial gestalt episodes of hyperventilation. We report on female patient with PHS showing speech, pronounced muscular hypotonia, ataxia, distinctive features, such as coarse face, broad nasal bridge wide mouth, hyperventilation attacks. In this patient, genomic profiling array-based comparative hybridization...