A5011394815- RNA Research and Splicing
- Neurogenetic and Muscular Disorders Research
- Mitochondrial Function and Pathology
- Amyotrophic Lateral Sclerosis Research
- CRISPR and Genetic Engineering
- Muscle Physiology and Disorders
- RNA modifications and cancer
- Adipose Tissue and Metabolism
- Genetic Neurodegenerative Diseases
- Hereditary Neurological Disorders
- Endoplasmic Reticulum Stress and Disease
- Nuclear Structure and Function
- RNA regulation and disease
University of Helsinki
2019-2022
Neurofilament light (NFL) is one of the proteins forming multimeric neuron-specific intermediate filaments, neurofilaments, which fill axonal cytoplasm, establish caliber growth, and provide structural support. Dominant missense mutations recessive nonsense in neurofilament gene (
Mitochondrial intermembrane space proteins CHCHD2 and CHCHD10 have roles in motor neuron diseases such as amyotrophic lateral sclerosis, spinal muscular atrophy axonal neuropathy Parkinson's disease. They form a complex of unknown function. Here we address the importance these two human neurons. We show that gene edited induced pluripotent stem cells (iPSC) lacking either or are viable can be differentiated into functional neurons fire spontaneous evoked action potentials. Mitochondria...
Objective To characterize serum biomarkers in mitochondrial CHCHD10-linked spinal muscular atrophy Jokela (SMAJ) type for disease monitoring and the understanding of pathogenic mechanisms. Methods We collected samples from a cohort 49 patients with SMAJ, all carriers heterozygous c.197G>T p.G66V variant CHCHD10 . As controls, we used age- sex-matched obtained Helsinki Biobank. Creatine kinase creatinine were measured by standard methods. Neurofilament light (NfL) glial fibrillary...
ABSTRACT Mitochondrial intermembrane space proteins CHCHD2 and CHCHD10 have roles in diseases affecting motor neurons such as amyotrophic lateral sclerosis, spinal muscular atrophy axonal neuropathy Parkinson’s disease, form a complex of unknown function. Here we address the importance these two human neurons. We show that gene edited induced pluripotent stem cells (iPSC) lacking either or are viable can be differentiated into functional fire spontaneous evoked action potentials. Knockout...
ABSTRACT Objective To characterize serum biomarkers in mitochondrial CHCHD10-linked spinal muscular atrophy Jokela type (SMAJ) for disease monitoring and understanding of pathogenic mechanisms. Methods We collected samples from a cohort 49 SMAJ patients, all carriers the heterozygous c.197G>T p.G66V variant CHCHD10 . As controls, we used age- sex-matched obtained Helsinki Biobank. Neurofilament light (NfL) glial fibrillary acidic protein (GFAP) were measured with Single molecule array...
SUMMARY Loss-of-function of the mRNA export protein GANP ( MCM3AP gene) cause early-onset sensorimotor neuropathy, characterised by axonal degeneration in long peripheral nerves. functions as a scaffold at nuclear pore complexes, contributing to selective mRNAs. Here, we aimed identify motor neuron specific transcripts that are regulated and may be limiting for local synthesis axons. We compared neurons with gene edited mutation Sac3 binding domain isogenic controls. also examined...