A5002690896- Peroxisome Proliferator-Activated Receptors
- Metabolism and Genetic Disorders
- Ion Transport and Channel Regulation
- Ion channel regulation and function
- Adipose Tissue and Metabolism
- RNA regulation and disease
- Adenosine and Purinergic Signaling
- Genomics and Rare Diseases
- Neurogenetic and Muscular Disorders Research
- Retinoids in leukemia and cellular processes
- Genetics and Neurodevelopmental Disorders
- Cancer, Hypoxia, and Metabolism
- Lysosomal Storage Disorders Research
- Autoimmune Neurological Disorders and Treatments
- Hereditary Neurological Disorders
- RNA Research and Splicing
- Genetic Neurodegenerative Diseases
- Immune Response and Inflammation
- Cardiac Arrhythmias and Treatments
- Diet and metabolism studies
- Cytomegalovirus and herpesvirus research
- Virus-based gene therapy research
- Epilepsy research and treatment
- Bone and Joint Diseases
- Neurological disorders and treatments
Universitätsmedizin Göttingen
2015-2025
University of Göttingen
2014-2025
University Children's Hospital Tübingen
2024-2025
University of Tübingen
2024-2025
Humboldt State University
2023
Case Western Reserve University
2017
Vanderbilt University Medical Center
2017
Center for Human Genetics
2017
University of Utah
2017
Hospital Maria Pia
2014
<h3>Objective:</h3> We aimed to delineate the clinical and genetic spectrum of ATP1A3-related disorders recognition a potential genotype-phenotype correlation. <h3>Methods:</h3> identified 16 new patients with alternating hemiplegia childhood (AHC) 3 rapid-onset dystonia-parkinsonism (RDP) included these as well molecular findings all previously reported 164 mutation-positive AHC RDP in our analyses. <h3>Results:</h3> Major characteristics shared common by comprise strikingly asymmetric,...
Background and purpose Multiple sclerosis (MS) onset before puberty is extremely rare establishment of diagnosis often difficult due to atypical presentation. The study aims identify the typical presentation MS in this age group. Methods Pediatric patients were identified from database C enter for M ultiple S clerosis hildhood A dolescence at U niversity edical G öttingen, ermany. Inclusion criteria a relapsing−remitting initial disease course minimum duration 4 years. Results Forty‐seven...
ATP1A3-related neurologic disorders encompass a broad range of phenotypes that extend well beyond initial phenotypic criteria associated with alternating hemiplegia childhood (AHC) and rapid-onset dystonia parkinsonism.In 2014, the Alternating Hemiplegia Childhood Foundation hosted multidisciplinary workshop intended to address fundamental challenges surrounding diagnosis management individuals disorders.Workshop attendees were charged following: (1) achieve consensus on expanded diagnostic...
Heterozygous mutations of the ATP1A3 gene cause rapid-onset dystonia-parkinsonism (RDP)1,2 and alternating hemiplegia childhood (AHC).3,4 Intermediate AHC/RDP presentations phenotypic diversity emerge.5 Aiming at identification -related conditions beyond classical RDP or AHC phenotypes, we loosened criteria for mutation analysis this in patients displaying features evocative RDP. We describe a 12-year-old boy with an unreported clinical presentation associated novel missense gene.
Scientific Report8 November 2016Open Access Source DataTransparent process Peroxisomal protein PEX13 functions in selective autophagy Ming Y Lee Center for Autophagy Research, Department of Internal Medicine, University Texas Southwestern Medical Center, Dallas, TX, USA Search more papers by this author Rhea Sumpter Jr Zhongju Zou Howard Hughes Institute, Shyam Sirasanagandla Yongjie Wei Prashant Mishra Children's Research Institute at the Hendrik Rosewich Pediatrics and Pediatric Neurology,...
SummaryInborn errors of selenoprotein expression arise from deleterious variants in genes encoding selenoproteins or biosynthetic factors, some which are associated with neurodegenerative disorders. This study shows that bi-allelic selenocysteine tRNA-specific eukaryotic elongation factor (EEFSEC) cause deficiency, leading to progressive neurodegeneration. EEFSEC an autosomal recessive disorder, manifests global developmental delay, spasticity, ataxia, and seizures. Cerebral MRI primarily...
Alternating hemiplegia of childhood is a rare disorder caused by de novo mutations in the ATP1A3 gene, expressed neurons and cardiomyocytes. As affected individuals may survive into adulthood, we use term 'alternating hemiplegia'. The characterized early-onset, recurrent, often alternating, hemiplegic episodes; seizures non-paroxysmal neurological features also occur. Dysautonomia occur during or isolation. Premature mortality can this patient group not fully explained. Preventable...
Abstract Peroxisomes are ubiquitous cell organelles involved in many metabolic and signaling functions. Their assembly requires peroxins, encoded by PEX genes. Mutations genes the cause of Zellweger Syndrome spectrum (ZSS), a heterogeneous group peroxisomal biogenesis disorders (PBD). The size morphological features peroxisomes below diffraction limit light, which makes them attractive for super-resolution imaging. We applied Stimulated Emission Depletion (STED) microscopy to study...
Anti-N-methyl-D-aspartate receptor encephalitis (NMDARE) is the most common form of autoimmune in children and adults. Although our understanding disease mechanisms has progressed, little known about estimating patient outcomes. Therefore, NEOS (anti-NMDAR Encephalitis One-Year Functional Status) score was introduced as a tool to predict progression NMDARE. Developed mixed-age cohort, it currently remains unclear whether can be optimized for pediatric NMDARE.This retrospective observational...
Mutations in each of the 13 identified human PEX genes are known to cause a peroxisomal biogenesis defect (PBD). Affected patients can be divided into two broad clinical spectra: Zellweger spectrum, which accounts for about 80% PBD patients, and rhizomelia chondrodysplasia punctata (RCDP) spectrum. The continuum spectrum extends from syndrome (ZS) as prototype most severe entity this group neonatal adrenoleukodystrophy (NALD) an intermediate form infantile Refsum (IRD) disease mildest...
An infant presented with multifocal myoclonus and cyanotic hypoxemia immediately after birth, severe feeding problems, a protein-losing enteropathy, massive ascites grand-mal epilepsy marked his rapid downhill course, death at 17 weeks. At 2 weeks, brain MRI revealed grey matter heterotopias in the parieto-occipital regions suggestive of cortical morphogenetic disorder. In cultured skin fibroblasts, lipid storage reduced activities ceramidase, galactosylceramide β-galactosidase...
To analyse the PEX1 gene, most common cause for peroxisome biogenesis disorders (PBD), in a consecutive series of patients with Zellweger spectrum.Mutations were detected by different methods including SSCP analyses as screening technique on basis genomic or cDNA, followed direct sequencing PCR fragments an abnormal electrophoresis pattern.33 studied. Two mutations, c.2528G-->A, G843D and c.2098_2098insT, I700YfsX42, accounted over 80% all alleles, emphasising their diagnostic relevance....
In humans, the concerted action of at least 13 different peroxisomal PEX proteins is needed for proper peroxisome biogenesis. Mutations in any these genes can lead to lethal neurometabolic disorders Zellweger syndrome spectrum (ZSS). Previously, we identified W313G mutation located within SH3 domain protein, PEX13. As this tryptophan residue highly conserved almost all known proteins, investigated pathogenic mechanism and its role PEX13 interactions functions Here, report first time that...
We present a rare case of peroxisomal acyl-CoA oxidase deficiency that was not detected by the common metabolic screening program for disorders. The patient presented with typical MRI pattern showing pachygyria, perisylvian polymicrogyria, cerebral and cerebellar white matter abnormalities, facial dysmorphia, progressive psychomotor retardation, deafness, retinopathy, peripheral neuropathy, infantile seizures strongly indicative disorder. Yet, repetitive measurements very long-chain fatty...