A5002070589- Amyotrophic Lateral Sclerosis Research
- Neurogenetic and Muscular Disorders Research
- Muscle Physiology and Disorders
- Parkinson's Disease Mechanisms and Treatments
Biogipuzkoa Health Research Institute
2024
Instituto de Salud Carlos III
2024
Biomedical Research Networking Center on Neurodegenerative Diseases
2024
Stathmin-2 (also known as SCG10 ) is encoded by the STMN2 gene, whose mRNA one of most abundantly expressed in human motor neurons. In almost all instances ALS and other TDP-43 proteinopathies, stathmin-2 encoding mRNAs are cryptically spliced polyadenylated neurons, a pathogenic consequence nuclear loss function RNA binding protein TDP-43. While has been shown to enhance regeneration after axonal injury axons cultured here, we show that crush within adult murine nervous system wild-type or...
Abstract Amyotrophic Lateral Sclerosis (ALS) is a multisystemic neurodegenerative disorder, with accumulating evidence indicating metabolic disruptions in the skeletal muscle preceding disease symptoms, rather than them manifesting as secondary consequence of motor neuron (MN) degeneration. Hence, energy homeostasis deeply implicated complex physiopathology ALS and has emerged key therapeutic target. Here, we describe intrinsic abnormalities muscle, both patient-derived cells cell lines...
Abstract The human mRNA most affected by TDP-43 loss-of-function is transcribed from the STMN2 gene and encodes stathmin-2 (also known as SCG10), whose loss a neurodegenerative disease hallmark. Here using multiple in vivo approaches, including transient antisense oligonucleotide (ASO)-mediated suppression, chronic shRNA-mediated depletion aging mice, germline deletion, we establish to be essential for acquisition maintenance of neurofilament-dependent structuring axoplasm critical...
ABSTRACT Amyotrophic Lateral Sclerosis (ALS) is a multisystemic neurodegenerative disorder, with accumulating evidence indicating metabolic disruptions in the skeletal muscle preceding disease symptoms, rather than them manifesting as secondary consequence of motor neuron (MN) degeneration. Hence, energy homeostasis deeply implicated complex physiopathology ALS and has emerged key therapeutic target. Here, we describe intrinsic abnormalities muscle, both patient-derived cells cell lines...