A5049813093- Retinal Development and Disorders
- Retinal Diseases and Treatments
- Cellular transport and secretion
- Retinal Imaging and Analysis
- Cell Adhesion Molecules Research
- Glaucoma and retinal disorders
- melanin and skin pigmentation
- Mitochondrial Function and Pathology
- RNA regulation and disease
- Photoreceptor and optogenetics research
- Retinal and Macular Surgery
- Connexins and lens biology
- Shoulder Injury and Treatment
- CRISPR and Genetic Engineering
- Cerebral Venous Sinus Thrombosis
- Genetic and Kidney Cyst Diseases
- Advanced biosensing and bioanalysis techniques
- Cerebrovascular and genetic disorders
- Tryptophan and brain disorders
- interferon and immune responses
- Orthopedic Surgery and Rehabilitation
- Neuroscience and Neuropharmacology Research
- Genetics and Neurodevelopmental Disorders
- Retinoids in leukemia and cellular processes
- Ocular Diseases and Behçet’s Syndrome
University of Regensburg
2016-2025
University Hospital Regensburg
2017
University of Würzburg
1994-2006
Prairie Gold (United States)
2004
Triangle
2004
Orthopaedic Center
2004
Klinikum Lippe
2001
Orthopädische Universitätsklinik
1998
St. Vinzenz Kliniken Pfronten im Allgäu
1996
Praxis für Humangenetik
1994
PurposeUsing exome sequencing, the underlying variants in many persons with autosomal recessive diseases remain undetected. We explored Stargardt disease (STGD1) as a model to identify missing heritability.MethodsSequencing of ABCA4 was performed 8 STGD1 cases one variant and p.Asn1868Ile trans, 25 variant, 3 no variant. The effect intronic analyzed using vitro splice assays HEK293T cells patient-derived fibroblasts. Antisense oligonucleotides were used correct defects.ResultsIn 24 probands...
Photoreceptor ribbon synapses release glutamate in response to graded changes membrane potential evoked by vast, logarithmically scalable light intensities. Neurotransmitter is modulated intracellular calcium levels. Large Ca 2+ -dependent chloride currents are important regulators of synaptic transmission from photoreceptors second-order neurons; the molecular basis underlying these unclear. We cloned human and mouse TMEM16B , a member TMEM16 family transmembrane proteins, show that it...
Purpose: Stargardt disease (STGD1) is an autosomal recessive retinopathy, caused by mutations in the retina-specific ATP-binding cassette transporter (ABCA4) gene. To establish mutational spectrum and to assess effects of selected deep intronic common genetic variants on disease, we performed a comprehensive sequence analysis large cohort German STGD1 patients. Methods: DNA samples 335 patients were analyzed for ABCA4 its 50 coding exons adjacent sequences resequencing array technology or...
The link between mitochondria and major depressive disorder (MDD) is increasingly evident, underscored both by mitochondria’s involvement in many mechanisms identified depression the high prevalence of MDD individuals with mitochondrial disorders. Mitochondrial functions energy metabolism are considered to be involved MDD’s pathogenesis. This study focused on cellular (dys)function two atypical cases: an antidepressant non-responding patient (“Non-R”) another unexplained (“Mito”). Skin...
CADASIL is a genetic paradigm of cerebral small vessel disease caused by NOTCH3 mutations that stereotypically lead to the extracellular deposition ectodomain (Notch3(ECD) ) on vessels. TIMP3 and vitronectin are 2 matrix proteins abnormally accumulate in Notch3(ECD) -containing deposits brain vessels mice patients with CADASIL. Herein, we investigated whether increased levels responsible for aspects phenotypes.Timp3 expression were genetically reduced TgNotch3(R169C) mice, well-established...
To report novel TIMP3 mutations, and to characterize the ocular phenotype of Sorsby fundus dystrophy (SFD), including a early sign for disease effect anti-VEGF therapy.Twenty-one probands three unrelated families with SFD were investigated using wide-field imaging, confocal laser scanning ophthalmoscopy autofluorescence optical coherence tomography (OCT), indocyanine green-angiography (ICG-A), molecular diagnostic causative mutations.Molecular genetic analysis revealed two (p.Tyr174Cys,...
Loss-of-function mutations in the gene encoding FAM161A were recently discovered as cause for RP28, an autosomal recessive form of retinitis pigmentosa. To initiate characterization cellular role retina, we focused on its subcellular localization and conducted vitro studies to identify FAM161A-interacting proteins associated structures. Immunohistochemistry revealed presence mouse photoreceptor inner segments, synaptic regions outer plexiform layers ganglion cells. In human retinal sections...
Background Combined retinal degeneration and sensorineural hearing impairment is mostly due to autosomal recessive Usher syndrome (USH1: congenital deafness, early retinitis pigmentosa (RP); USH2: progressive impairment, RP). Methods Sanger sequencing NGS of 112 genes (Usher syndrome, nonsyndromic overlapping conditions), MLPA, array-CGH were conducted in 138 patients clinically diagnosed with syndrome. Results A molecular diagnosis was achieved 97% both USH1 USH2 patients, biallelic...
Purpose: Stargardt disease (STGD1), the most common early-onset recessive macular degeneration, is caused by mutations in gene encoding ATP-binding cassette transporter ABCA4. Although extensive genetic studies have identified more than 1000 that cause STGD1 and related ABCA4-associated diseases, few investigated extent to which affect biochemical properties of The purpose this study was correlate expression functional activities missense ABCA4 a cohort Canadian patients with their clinical...
Purpose Stargardt disease (STGD1) is caused by biallelic mutations in ABCA4, but many patients are genetically unsolved due to insensitive mutation-scanning methods. We aimed develop a cost-effective sequencing method for ABCA4 exons and regions carrying known causal deep-intronic variants. Methods Fifty 12 containing 14 variants of were sequenced using double-tiled single molecule Molecular Inversion Probe (smMIP)-based next-generation sequencing. DNAs 16 STGD1 cases 29 alleles four healthy...
The anoctamin family of transmembrane proteins are found in all eukaryotes and consists 10 members vertebrates. Ano1 ano2 were observed to have Ca2+ activated Cl- channel activity. Recent findings however revealed that ano6, ano7 can also produce chloride currents, although with different properties. In contrast, ano9 ano10 suppress baseline conductance when co-expressed ano1 thus suggesting anoctamins interfere each other. order elucidate intrinsic functional diversity, underlying...
Purpose: To investigate the choroidal blood flow in areas within and adjacent to retinal pigment epithelium (RPE) atrophy secondary late-onset Stargardt disease (STGD1) age-related macular degeneration (AMD). Methods: A total of 43 eyes (23 STGD1 20 AMD) patients with RPE 25 healthy controls without ocular pathology underwent multimodal imaging including optical coherence tomography angiography (OCT-A; PLEX Elite 9000 Swept-Source OCT). Using an exploratory approach, choriocapillaris deeper...
The mechanisms behind the phenotypic variability and reduced penetrance in autosomal recessive Stargardt disease (STGD1), often a blinding disease, are poorly understood. Identification of unknown modifiers can improve patient family counseling provide valuable information for management.To assess association incompletely penetrant ABCA4 alleles with sex STGD1.Genetic data this cross-sectional study were obtained from 2 multicenter genetic studies 1162 patients clinically suspected STGD1....
Mutations in the RS1 gene that encodes discoidin domain containing retinoschisin cause X-linked juvenile retinoschisis (XLRS), a common macular degeneration males. Disorganization of retinal layers and electroretinogram abnormalities are hallmarks disease also found mice deficient for orthologous murine protein, indicating is important maintenance cell integrity. Upon secretion, associates with plasma membranes photoreceptor bipolar cells, although components by which protein linked to vivo...