TDP-43 Loss Induces Cryptic Polyadenylation in ALS/FTD

Medicine, Basic Medical Sciences, Neurology, Life Sciences, Cell Biology, Biochemistry, Genetics,
TDP-43   cryptic polyadenylation   ALS   FTD   RNA processing   neurodegeneration  

TDP-43 Loss Induces Cryptic Polyadenylation in ALS/FTD Background Introduction Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are two severe neurodegenerative diseases affecting hundreds of thousands of people worldwide. Extensive research has shown that the RNA-binding protein TDP-43 (TAR DNA-binding protein 43) displays abn...

Embryonic Motor Neuron Programming Factors Reactivate Immature Gene Expression and Suppress ALS Pathologies in Postnatal Motor Neurons

Medicine, Basic Medical Sciences, Neurology, Life Sciences, Cell Biology, Biochemistry, Bioengineering, Genetics,
motor neuron   ALS   transcription factors   gene expression   neurodegeneration   reprogramming   gene therapy  

1. Academic Background and Research Motivation Degenerative diseases of motor neurons, such as Amyotrophic Lateral Sclerosis (ALS), have long been a key research area in neuroscience. ALS is characterized by adult onset, with progressive degeneration of motor neurons leading to paralysis and death. In diseases such as ALS, aging is considered a maj...

Aberrant splicing exonizes C9orf72 repeat expansion in ALS/FTD

Medicine, Basic Medical Sciences, Neurology, Life Sciences, Cell Biology, Biochemistry, Genetics,
aberrant splicing   C9orf72   repeat expansion   ALS   frontotemporal dementia   DPR proteins   therapeutic targets  

New Pathway for ALS/FTD-Related C9orf72 Pathogenesis Revealed by Latest Nature Neuroscience Study Academic Background and Research Motivation Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are among the most challenging neurodegenerative diseases in clinical medicine, with complex pathogenesis that remains insufficiently expl...

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...