A5058807566- Amyotrophic Lateral Sclerosis Research
- Neurogenetic and Muscular Disorders Research
- Parkinson's Disease Mechanisms and Treatments
- Protein purification and stability
- Monoclonal and Polyclonal Antibodies Research
- Labor Movements and Unions
- biodegradable polymer synthesis and properties
- Microfluidic and Bio-sensing Technologies
- Neurological diseases and metabolism
- Genomics, phytochemicals, and oxidative stress
- Social Policy and Reform Studies
- Breast Cancer Treatment Studies
- Cancer-related gene regulation
- Transgenic Plants and Applications
- Breast Lesions and Carcinomas
- European Socioeconomic and Political Studies
- Photosynthetic Processes and Mechanisms
- Polyomavirus and related diseases
- Congenital Anomalies and Fetal Surgery
- Cholinesterase and Neurodegenerative Diseases
- Viral Infectious Diseases and Gene Expression in Insects
- Nitrogen and Sulfur Effects on Brassica
- Dental materials and restorations
- Drug Solubulity and Delivery Systems
- Hereditary Neurological Disorders
Universität Ulm
2007-2025
German Center for Neurodegenerative Diseases
2022-2024
Lonza (Switzerland)
2020-2024
University Hospital Ulm
2022-2024
SMART Reading
2024
Marienhospital Stuttgart
2023
Stuttgart Observatory
2023
Klinikum Ludwigsburg
2023
University of Basel
2020-2021
LMU Klinikum
2016
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...
Objective Weight loss has been identified as a negative prognostic factor in amyotrophic lateral sclerosis, but there is no evidence regarding whether high‐caloric diet increases survival. Therefore, we sought to evaluate the efficacy of fatty (HCFD) for increasing Methods A 1:1 randomized, placebo‐controlled, parallel‐group, double‐blinded trial (LIPCAL‐ALS study) was conducted between February 2015 and September 2018. Patients were followed up at 3, 6, 9, 12, 15, 18 months after...
In April 2023, the antisense oligonucleotide tofersen was approved by U.S. Food and Drug Administration (FDA) for treatment of
Abstract As part of our analysis branched-chain amino acid metabolism in plants, we analyzed the function Arabidopsis thaliana BRANCHED-CHAIN AMINOTRANSFERASE4 (BCAT4). Recombinant BCAT4 showed high efficiency with Met and its derivatives corresponding 2-oxo acids, suggesting participation chain elongation pathway Met-derived glucosinolate biosynthesis. This was substantiated by vivo two T-DNA knockout mutants, which aliphatic accumulation is reduced ∼50%. The increase free...
Objectives Recent advances in amyotrophic lateral sclerosis (ALS) genetics have revealed that mutations any of more than 25 genes can cause ALS, mostly as an autosomal-dominant Mendelian trait. Detailed knowledge about the genetic architecture ALS a specific population will be important for counselling but also genotype-specific therapeutic interventions. Methods Here we combined fragment length analysis, repeat-primed PCR, Southern blotting, Sanger sequencing and whole exome to obtain...
Valine, leucine and isoleucine contain short branched carbohydrate residues responsible for their classification as branched‐chain amino acids (BCAA). Among the proteinogenic acids, BCAA show highest hydrophobicity are accordingly major constituents of transmembrane regions membrane proteins. cannot be synthesized by humans thus belong to essential acids. In contrast, plants able synthesize these de novo an important source compounds in human diet. However, only plants, probably also valine...
Abstract Branched-chain amino acid transaminases (BCATs) play a crucial role in the metabolism of leucine, isoleucine, and valine. They catalyze last step synthesis and/or initial degradation this class acids. In Arabidopsis, seven putative BCAT genes are identified by their similarity to counterparts from other organisms. We have now cloned respective cDNA sequences six these genes. The deduced show between 47.5% 84.1% identity each about 30% homologous enzymes yeast (Saccharomyces...
Abstract In Arabidopsis thaliana, transamination steps in the leucine biosynthetic and catabolic pathways methionine (Met) chain elongation cycle of aliphatic glucosinolate formation are catalyzed by branched-chain aminotransferases (BCATs) that encoded a small gene family six members. One member this family, plastid-located BCAT3, was shown to participate both amino acid metabolism. vitro activity tests with recombinant protein identified highest activities 2-oxo acids leucine, isoleucine,...
Therapy of motoneuron diseases entered a new phase with the use intrathecal antisense oligonucleotide therapies treating patients specific gene mutations predominantly in context familial amyotrophic lateral sclerosis. With majority cases being sporadic, we conducted cohort study to describe mutational landscape sporadic We analysed genetic variants sclerosis-associated genes assess and potentially increase number eligible for gene-specific therapies. screened 2340 sclerosis from German...
An expansion of the GGGGCC hexanucleotide in non-coding region C9orf72 represents most common cause familial amyotrophic lateral sclerosis. The objective was to describe and analyse clinical genetic features sclerosis patients with mutations a large population. Between November 2011 December 2020, characteristics n = 248 carrying were collected from scientific network German motoneuron disease centres. Clinical parameters included age onset, diagnostic delay, family history,...
Objective Neurofilament light chains (NfL) and phosphorylated neurofilament heavy (pNfH), established as diagnostic prognostic biomarkers in hospital‐based amyotrophic lateral sclerosis (ALS) cohorts, are now surrogate markers clinical trials. This study extends their evaluation to a population level, with the aim of advancing full establishment assessing transferability biomarker findings from controlled cohorts real‐world ALS populations. Methods We measured serum NfL pNfH levels all...
Plasma exchange (PE) constitutes the standard therapy for steroid-refractory relapse in multiple sclerosis and clinically isolated syndrome. Immunoadsorption (IA) is an alternative method of apheresis which selectively removes immunoglobulines (Ig) while preserving other plasma proteins. Although IA regarded as a well-tolerated, low-risk procedure, high-level evidence its efficacy lacking. Therefore, we sought to investigate whether superior PE patients with acute or syndrome who had...
Abstract Background Interventional trials in amyotrophic lateral sclerosis (ALS) suffer from the heterogeneity of disease as it considerably reduces statistical power. We asked if blood neurofilament light chains (NfL) could be used to anticipate progression and increase trial Methods In 125 patients with ALS three independent prospective studies—one observational study two interventional trials—we developed externally validated a multivariate linear model for predicting progression,...
Abstract Background The ALS Functional Rating Scale in its revised version (ALSFRS-R) is a disease-specific severity score that reflects motor impairment and functional deterioration people with amyotrophic lateral sclerosis (ALS). It has been widely applied both clinical practice research. However, Germany, several variants of the scale, each differing slightly from others, have developed over time are currently circulation. This lack uniformity potentially hampers data interpretation may...
Objective There is growing evidence that the course of amyotrophic lateral sclerosis (ALS) may be influenced beneficially by applying high-caloric food supplements (HCSs). However, it unknown which composition nutrients offers optimal tolerability and weight gain. Methods We conducted a randomised controlled study (Safety Tolerability Ultra-high-caloric Food Supplements in Amyotrophic Lateral Sclerosis (ALS); TOLCAL-ALS study) 64 patients with possible, probable or definite ALS according to...
Laboratory capacities are often limited by time-consuming manual repetitive procedures rather than analysis time itself. While modern instruments typically equipped with an autosampler, sample preparation follows including many labor-intensive, monotonous tasks. Particularly, for a high number of samples, well plates, and low microliter pipetting, is error-prone requiring repeated experiments. Sampling can account greater analytical variability instrument analysis. Repetitive tasks such as...
Abstract Tofersen is the first effective and approved therapy for familial ALS caused by pathogenic variants in SOD1 gene. Following treatment with tofersen, neurofilaments patients CSF serum display a faster response than clinical parameters, underlining their importance as biomarker trials. This evidence led us to hypothesize that this novel might represent an opportunity identify additional therapy-responsive biomarkers ALS. We chose commercial NUcleic acid Linked Immuno-Sandwich Assay...
Patients with amyotrophic lateral sclerosis (ALS) suffer from dysphagia that increases the risk for aspiration, pneumonia and weight loss. Pharyngeal electrical stimulation (PES) is a therapeutic technique applies electric stimuli to patient's pharynx in order improve swallowing based on principle of cortical plasticity reorganization. Previous studies have demonstrated positive effects patients various neurological diseases.This study was initiated investigate effect PES function ALS.In...