Genetic Neurodegenerative Diseases
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Latest in Genetic Neurodegenerative Diseases
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SNI1/NSE5 acts as a temperature-sensitive brake on class II crossovers, increasing crossover bias toward subtelomeric regions in Arabidopsis at low temperatures.
- Open access
NAD+ precursor treatment improves cardiac function but impairs erythroid maturation in mitochondrial progeria mice, revealing tissue-specific effects.
- Open access
Loss of interruption in the HTT CAG repeat correlates with increased somatic expansions and significant loss of medium spiny neurons in Huntington's disease.
- Open access
Inhibition of nuclear export reduces pathogenic TDP-43 aggregation and phospho-TDP-43 accumulation in ALS models, highlighting nuclear transport as a key modulator.
- Open access
Cerebellar-specific functions remain intact in older adults despite significant structural degeneration, even beyond age 80, highlighting remarkable functional resilience.
- Open access
- 1 cites
Duchenne muscular dystrophy carrier frequency is 0.11% in Yueyang, China, with a high prevalence of exon 45-55 deletions and significant regional variation.
- Open access
Recurrent TOP1-mediated neuronal genomic damage occurs in over 60% of neurons across ALS, FTD, and AD, linking mutagenesis to neurodegeneration.
- Open access
Overexpression of frataxin in Arabidopsis thaliana enhances growth and modulates iron metabolism under both iron deficiency and excess, with a 30% increase in rosette size.
- Open access
Advanced sequencing technologies reveal extensive structural and nucleotide-level diversity in the SMN locus, impacting clinical understanding of spinal muscular atrophy.
- Open access
Genomic analysis of 529 ancient individuals reveals no strong positive selection from Yersinia pestis during the second plague pandemic across northern Europe.
- Open access
An elderly woman with bulbar-onset ALS and cerebellar symptoms carried an intermediate-length CACNA1A allele, marking the first such case reported in the Chinese population.
- Open access
Soma and Neurite Density Imaging (SANDI) detects striatal neurodegeneration in Huntington's disease, revealing reduced cell body density and increased size linked to motor decline.
- Open access
- 1 cites
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