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Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
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Updated: May 29, 2026

Purification of Transcripts and Metabolites from Drosophila Heads
12:49

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Published on: March 15, 2013

[SCA6: From gene identification to recent progress on pathogenesis].

Kei Watase1, Kinya Ishikawa, Hidehiro Mizusawa

  • 1Center for Brain Integration Research, Tokyo Medical and Dental University.

Rinsho Shinkeigaku = Clinical Neurology
|September 17, 2011
PubMed
Summary

Spinocerebellar ataxia type 6 (SCA6) is a neurodegenerative disorder caused by CAG repeat expansions in the CACNA1A gene. Research suggests age-dependent accumulation of toxic polyglutamine proteins drives Purkinje cell degeneration in SCA6.

Area of Science:

  • Neuroscience
  • Genetics
  • Molecular Biology

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