Ralf A. Husain
A5001342280- RNA modifications and cancer
- Mitochondrial Function and Pathology
- Neurogenetic and Muscular Disorders Research
- Genomics and Rare Diseases
- Metabolism and Genetic Disorders
- Congenital Anomalies and Fetal Surgery
- Congenital heart defects research
- RNA regulation and disease
- Genomic variations and chromosomal abnormalities
- Lysosomal Storage Disorders Research
- Genetics and Neurodevelopmental Disorders
- interferon and immune responses
- Neurological diseases and metabolism
- Inflammasome and immune disorders
- RNA Research and Splicing
- Receptor Mechanisms and Signaling
- Congenital Heart Disease Studies
- Williams Syndrome Research
- RNA and protein synthesis mechanisms
- Tuberous Sclerosis Complex Research
- Trypanosoma species research and implications
- ATP Synthase and ATPases Research
- Diet and metabolism studies
- Glycogen Storage Diseases and Myoclonus
- Prenatal Screening and Diagnostics
Jena University Hospital
2016-2025
Klinik und Poliklinik für Kinder- und Jugendmedizin
2010-2019
Universitätskinderklinik
2018
Boston Children's Hospital
2013
Center for Clinical Studies
2010
The human mitochondrial genome encodes RNA components of its own translational machinery to produce the 13 mitochondrial-encoded subunits respiratory chain. Nuclear-encoded gene products are essential for all processes within organelle, including processing. Transcription generates large polycistronic transcripts punctuated by 22 (mt) tRNAs that conventionally cleaved RNase P-complex and Z activity ELAC2 at 5' 3' ends, respectively. We report identification mutations in five individuals with...
Children with Alport syndrome develop renal failure early in life. Since the safety and efficacy of preemptive nephroprotective therapy are uncertain we conducted a randomized, placebo-controlled, double-blind trial 14 German sites pediatric patients ramipril for three to six years plus months follow-up determine these parameters. Pretreated children those whose parents refused randomization became an open-arm control, which were compared prospective real-world data from untreated children....
Deficiencies in respiratory-chain complexes lead to a variety of clinical phenotypes resulting from inadequate energy production by the mitochondrial oxidative phosphorylation system. Defective expression mtDNA-encoded genes, caused mutations either or nuclear genome, represents rapidly growing group human disorders. By whole-exome sequencing, we identified two unrelated individuals carrying compound heterozygous variants TRMT5 (tRNA methyltransferase 5). encodes protein with strong homology...
Abstract 5q-associated spinal muscular atrophy is a rare neuromuscular disorder with the leading symptom of proximal muscle weakness. Three different drugs have been approved by European Medicines Agency and Food Drug Administration for treatment patients, however, long-term experience still scarce. In contrast to clinical trial data restricted patient populations short observation periods, we report here real-world evidence on broad spectrum patients early-onset treated nusinersen focusing...
Abstract Background The development and approval of disease modifying treatments have dramatically changed progression in patients with spinal muscular atrophy (SMA). Nusinersen was approved Europe 2017 for the treatment SMA irrespective age severity. Most data on therapeutic efficacy are available infantile-onset SMA. For type 2 3, there is still a lack sufficient evidence long-term experience nusinersen treatment. Here, we report from SMArtCARE registry non-ambulant children typen 3 under...
Abstract Objective This study aims to elucidate the long‐term benefit of newborn screening (NBS) for individuals with long‐chain 3‐hydroxy‐acyl‐CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein (MTP) deficiency, inherited metabolic diseases included in NBS programs worldwide. Methods German national multicenter confirmed LCHAD/MTP deficiency identified by between 1999 2020 or selective screening. Analyses focused on results, confirmatory diagnostics, clinical outcomes....
Abstract Urea cycle disorders (UCDs) are a group of rare conditions, possibly life-threatening and without definitive cure besides liver transplantation. Traditional biochemical analyses/biomarkers cannot reliably determine changes in the UC-function from baseline to post-intervention. We describe UHPLC-HRMS method assess ureagenesis plasma dried blood spots for [ 15 N]urea N]amino acids, using N]ammonium chloride as tracer. N]enrichment urea amino acids was studied controls ( n = 22)...
Mitochondrial diseases, a group of multi-systemic disorders often characterized by tissue-specific phenotypes, are usually progressive and fatal resulting from defects in oxidative phosphorylation. MTO1 (Mitochondrial tRNA Translation Optimization 1), an evolutionarily conserved protein expressed high-energy demand tissues has been linked to human early-onset combined phosphorylation deficiency associated with hypertrophic cardiomyopathy, referred as deficiency-10 (COXPD10).Thirty five cases...
Krabbe disease or globoid cell leukodystrophy is a severe neurodegenerative disorder caused by defect in the GALC gene leading to deficiency of enzyme ß-galactocerebrosidase. The aim this work was describe natural course covering whole spectrum disease.Natural history data were collected with standardized questionnaire, supplemented medical record data. We defined different forms according Abdelhalim et al. (2014). Developmental and trajectories described based on acquisition loss milestones...
Background: Enzyme replacement therapy (ERT) with recombinant human alglucosidase alfa (rhGAA) was approved in Europe 2006. Nevertheless, data on the long-term outcome of infantile onset Pompe disease (IOPD) patients at school age is still limited. Objective: We analyzed detail cardiac, respiratory, motor, and cognitive function 15 German-speaking aged 7 older who started ERT a median 5 months. Results: Starting dose 20 mg/kg biweekly 12 patients, weekly 2, 40 one patient. CRIM-status...
TLRs mediate the recognition of microbial and endogenous insults to orchestrate inflammatory response. localize plasma membrane or endomembranes, depending on member, rely critically ER-resident chaperones mature reach their subcellular destinations. The chaperone canopy FGF signaling regulator 3 (CNPY3) is necessary for proper trafficking multiple including TLR1/2/4/5/9 but not TLR3. However, exact role CNPY3 in signalling downstream has been studied detail. Consistent with reported client...
(Abstracted from JAMA Pediatr 2024;178(6):540–547 Spinal muscular atrophy (SMA) is a genetic disorder characterized by progressive muscle weakness and atrophy, with the most severe cases leading to ventilator dependency or death within 2 years. Three new therapies have significantly improved outcomes, especially early treatment.
Abstract Dysfunctional RNA processing caused by genetic defects in enzymes has a profound impact on the nervous system, resulting neurodevelopmental conditions. We characterized recessive neurological disorder 18 children and young adults from 10 independent families typified intellectual disability, motor developmental delay gait disturbance. In some patients peripheral neuropathy, corpus callosum abnormalities progressive basal ganglia deposits were present. The is associated with rare...