A5068694836- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Biochemical and Molecular Research
- Folate and B Vitamins Research
- Lysosomal Storage Disorders Research
- Amino Acid Enzymes and Metabolism
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Neonatal Health and Biochemistry
- RNA regulation and disease
- RNA modifications and cancer
- Diet and metabolism studies
- Epilepsy research and treatment
- Neurogenetic and Muscular Disorders Research
- Glycogen Storage Diseases and Myoclonus
- Autoimmune Neurological Disorders and Treatments
- Genetic Neurodegenerative Diseases
- Child and Adolescent Health
- Childhood Cancer Survivors' Quality of Life
- Alcoholism and Thiamine Deficiency
- Infectious Encephalopathies and Encephalitis
- Genomic variations and chromosomal abnormalities
- Neurological and metabolic disorders
- Congenital Anomalies and Fetal Surgery
- Carbohydrate Chemistry and Synthesis
Medical University of Graz
2012-2025
SMART Reading
2024
University Children's Hospital Zurich
2013-2022
University of Zurich
2012-2022
Universitätsklinik für Kinder und Jugendpsychiatrie
2004-2022
Graz University Hospital
2006-2021
Zentrum für Kinderheilkunde
2005-2021
University of Graz
1993-2021
John Wiley & Sons (United States)
2020
Hudson Institute
2020
The low-density lipoprotein receptor (LDLR) plays a pivotal role in clearing atherogenic circulating (LDL) cholesterol. Here we show that the COMMD/CCDC22/CCDC93 (CCC) and Wiskott-Aldrich syndrome protein SCAR homologue (WASH) complexes are both crucial for endosomal sorting of LDLR its function. We find patients with X-linked intellectual disability caused by mutations CCDC22 hypercholesterolaemic, COMMD1-deficient dogs liver-specific Commd1 knockout mice have elevated plasma LDL...
Glutaryl-CoA dehydrogenase deficiency (GDD) is a recessively inherited neurometabolic disorder associated with encephalopathic crises and severe extrapyramidal symptoms. Treatment regimens including glucose electrolyte infusions during acute illnesses, oral carnitine supplementation and/or low-protein or lysine-restricted diet have been recommended, but their efficacy has documented only on an anecdotal basis.
Severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome) is a rare disorder occurring in young children often without family history similar disorder. The earliest disease manifestations are usually fever-associated seizures. Later life, patients display different types afebrile seizures including Arrest psychomotor development occurs the second year life and most become ataxic. Patients resistant to antiepileptic drug therapy. Recently, we described de novo mutations neuronal sodium...
Abstract Objective Folinic acid–responsive seizures and pyridoxine‐dependent epilepsy are two treatable causes of neonatal epileptic encephalopathy. The former is diagnosed by characteristic peaks on cerebrospinal fluid (CSF) monoamine metabolite analysis; its genetic basis has remained elusive. latter due to α‐aminoadipic semialdehyde (α‐AASA) dehydrogenase deficiency, associated with pathogenic mutations in the ALDH7A1 ( antiquitin ) gene. We report patients whose CSF showed marker folinic...
<h3>Background</h3> Next generation sequencing has become the core technology for gene discovery in rare inherited disorders. However, interpretation of numerous sequence variants identified remains challenging. We assessed application exome diagnostics complex I deficiency, a disease with vast genetic heterogeneity. <h3>Methods</h3> Ten unrelated individuals deficiency were selected and sequential bioinformatic filtering. Cellular rescue experiments performed to verify pathogenicity novel...
The first described patients with pyridox(am)ine 5'-phosphate oxidase deficiency all had neonatal onset seizures that did not respond to treatment pyridoxine but responded pyridoxal 5'-phosphate. Our data suggest, however, the clinical spectrum of is much broader than has been reported in literature. Sequencing PNPO gene was undertaken for a cohort 82 individuals who shown reduction frequency and severity response or Novel sequence changes were studied using new cell-free expression system...
Patients with pyridoxine dependent epilepsy (PDE) present early-onset seizures resistant to common anticonvulsants. According the benefit of (vitamin B(6)) and recurrence on withdrawal, patients so far have been classified as having definite, probable, or possible PDE. Recently, PDE has shown be caused by a defect alpha-amino adipic semialdehyde (AASA) dehydrogenase (antiquitin) in cerebral lysine degradation pathway. The accumulating compound piperideine-6-carboxylic acid (P6C) was...
<h3>Background</h3> <i>NKX2-1</i> encodes a transcription factor with large impact on the development of brain, lung and thyroid. Germline mutations can lead to dysfunction malformations these organs. Starting from largest coherent collection patients suspected phenotype date, we systematically evaluated frequency, quality spectrum phenotypic consequences mutations. <h3>Methods</h3> After identifying by Sanger sequencing array CGH, comprehensively reanalysed affected their relatives. We...
Objectives The majority of people with suspected genetic dystonia remain undiagnosed after maximal investigation, implying that a number causative genes have not yet been recognized. We aimed to investigate this paucity diagnoses. Methods undertook weighted burden analysis whole‐exome sequencing (WES) data from 138 individuals unresolved generalized etiology, followed by additional case‐finding international databases, first for the gene implicated ( VPS16 ), and then other functionally...
Abstract Glutaric aciduria type 1 is a rare inherited neurometabolic disorder of lysine metabolism caused by pathogenic gene variations in GCDH (cytogenic location: 19p13.13), resulting deficiency mitochondrial glutaryl‐CoA dehydrogenase (GCDH) and, consequently, accumulation glutaric acid, 3‐hydroxyglutaric glutaconic acid and glutarylcarnitine detectable gas chromatography/mass spectrometry (organic acids) tandem mass (acylcarnitines). Depending on residual activity, biochemical high low...
Cardio‐facio‐cutaneous (CFC) and Costello syndrome (CS) are congenital disorders with a significant clinical overlap. The recent discovery of heterozygous mutations in genes encoding components the RAS–RAF–MAPK pathway both CFC CS suggested similar underlying pathogenesis these two disorders. While is heterogeneous BRAF , MAP2K1 MAP2K2 KRAS HRAS alterations almost exclusively associated CS. We carried out comprehensive mutation analysis 51 CFC‐affected patients 31 individuals Twelve...
To evaluate the efficacy and safety of dietary lysine restriction as an adjunct to pyridoxine therapy on biochemical parameters, seizure control, developmental/cognitive outcomes in children with pyridoxine-dependent epilepsy (PDE) caused by antiquitin (ATQ) deficiency. In this observational study, seven confirmed ATQ deficiency were started regular nutritional monitoring. Biochemical evaluated using pipecolic acid α-aminoadipic semialdehyde (AASA) levels body fluids; age-appropriate tests...