Persistent NRG1 Type III Overexpression in Spinal Motor Neurons Has No Therapeutic Effect on ALS-Related Pathology in SOD1 G93A Mice

Medicine, Basic Medical Sciences, Neurology, Life Sciences, Cell Biology, Biochemistry, Immunology, Microbiology,
ALS   motor neurons   NRG1   SOD1   neurodegenerative disease   therapy   gene therapy  

Background and Research Motivation Amyotrophic Lateral Sclerosis (ALS) is a devastating neurodegenerative disease affecting upper and lower motor neurons, leading to progressive muscle paralysis and eventual death. Currently, no effective treatments can significantly delay or halt ALS progression. While various ALS mouse models (such as those carry...

Disruption of Nuclear Speckle Integrity Dysregulates RNA Splicing in C9orf72-FTD/ALS

Medicine, Neurology, Life Sciences, Cell Biology, Biochemistry, Genetics,
nuclear speckles   RNA splicing   C9orf72   FTD   ALS  

Disruption of Nucleolar Integrity and Dysregulation of RNA Splicing in C9orf72-FTD/ALS Background and Research Motivation The hexanucleotide repeat expansion (GGGGCC)n in the C9orf72 gene is the most common genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Studies have shown that these repeat sequences not only...

Protein Disulfide Isomerase Endoplasmic Reticulum Protein 57 (ERP57) is Protective Against ALS-Associated Mutant TDP-43 in Neuronal Cells

Medicine, Neurology, Life Sciences, Cell Biology, Biochemistry, Biophysics,
ALS   protein disulfide isomerase   ERP57   TDP-43 pathology   ER stress  

Study on the Protective Effect of ERP57 on ALS-related Mutant TDP-43 in Neuronal Cells Introduction Amyotrophic Lateral Sclerosis (ALS) is a severe neurodegenerative disease affecting motor neurons. Almost all ALS cases (97%) and about 50% of frontotemporal dementia (FTD) cases show a pathological form of Tar-DNA binding protein-43 (TDP-43), indica...

Aberrant CHCHD2-Associated Mitochondriopathy in Kii ALS/PDC Astrocytes

Medicine, Medical Laboratory Science, Neurology, Life Sciences, Cell Biology, Biochemistry, Immunology,
ALS   PDC   Kii ALS/PDC   CHCHD2   astrocytes   mitochondria  

Study Report on Abnormal CHCHD2-Related Mitochondrial Pathology in Astrocytes in Kii ALS/PDC I. Research Background Amyotrophic lateral sclerosis/Parkinsonism-dementia complex (ALS/PDC) is a rare and complex neurodegenerative disorder primarily observed in Western Pacific islands such as Japan, Guam, and Papua New Guinea. Patients with this disease...

Annexin A11 Aggregation in FTLD-TDP Type C and Related Neurodegenerative Disease Proteinopathies

Medicine, Neurology, Life Sciences, Cell Biology, Biochemistry, Immunology,
neurodegenerative disease   TDP-43   FTLD-TDP   ALS   Annexin A11  

Study on Annexin A11 Aggregation and TDP-43 Proteinopathies in Neurodegenerative Diseases In this research report published in Acta Neuropathologica, researchers led by John L. Robinson from the University of Pennsylvania investigate the aggregation phenomena of Annexin A11 in neurodegenerative diseases, particularly in FTLD-TDP Type C, which is as...

Single-Nucleus Sequencing Reveals Enriched Expression of Genetic Risk Factors in ALS-Sensitive Neurons

Medicine, Basic Medical Sciences, Geriatrics, Neurology, Life Sciences, Biochemistry, Genetics,
single-nucleus sequencing   ALS   neurons   genetic risk factors   transcriptomics  

Publication of a New Study on ALS Neurodegeneration in 《Nature Aging》 Throughout human history, numerous mysterious diseases have posed significant challenges for scientific research. Among these, Amyotrophic Lateral Sclerosis (ALS), a progressive neurodegenerative disease, is known for the gradual loss of muscle function and disability it causes. ...