PTDP-43 Levels Correlate with Cell Type–Specific Molecular Alterations in the Prefrontal Cortex of C9orf72 ALS/FTD Patients

Medicine, Neurology, Life Sciences, Cell Biology, Immunology, Genetics,
neurodegenerative disorders   PTDP-43   C9orf72   prefrontal cortex   single-nucleus multiome analysis  

Correlation between PTDP-43 Levels and Cell-Specific Molecular Alterations in the Prefrontal Cortex of C9orf72 ALS/FTD Patients Background Introduction Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD) are two types of progressive neurodegenerative diseases. Their common feature is the loss of specific neuronal populations in th...

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...

Abundant Transcriptomic Alterations in the Human Cerebellum of Patients with a C9orf72 Repeat Expansion

Medicine, Medical Laboratory Science, Neurology, Life Sciences, Cell Biology, Biochemistry, Genetics,
C9orf72   Amyotrophic Lateral Sclerosis   Frontotemporal Lobar Degeneration   Transcriptomics   Cryptic Exons  

Research Background In the field of neuroscience, amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are two highly heterogeneous neurodegenerative diseases. Studies indicate that non-coding hexanucleotide repeat expansions in the c9orf72 gene are the most common genetic causes of these diseases. However, the specific ...