Functional biology of the neuronal ceroid lipofuscinoses (NCL) proteins

Aija Kyttälä, Ulla Lahtinen, Thomas Braulke, Sandra L. Hofmann

Research output: Contribution to journalReview article

68 Scopus citations

Abstract

Neuronal ceroid lipofucinoses (NCLs) are a group of severe neurodegenerative disorders characterized by accumulation of autofluorescent ceroid lipopigment in patients' cells. The different forms of NCL share many similar pathological features but result from mutations in different genes. The genes affected in NCLs encode both soluble and transmembrane proteins and are localized to ER or to the endosomes/lysosomes. Due to selective vulnerability of the central nervous system in the NCL disorders, the corresponding proteins are proposed to have important, tissue specific roles in the brain. The pathological similarities of the different NCLs have led not only to the grouping of these disorders but also to suggestion that the NCL proteins function in the same biological pathway. Despite extensive research, including the development of several model organisms for NCLs and establishment of high-throughput techniques, the precise biological function of many of the NCL proteins has remained elusive. The aim of this review is to summarize the current knowledge of the functions, or proposed functions, of the different NCL proteins.

Original languageEnglish (US)
Pages (from-to)920-933
Number of pages14
JournalBiochimica et Biophysica Acta - Molecular Basis of Disease
Volume1762
Issue number10
DOIs
StatePublished - Oct 1 2006

Keywords

  • Batten disease
  • Lysosomal degradation
  • NCL
  • Neurodegeneration
  • Storage disease

ASJC Scopus subject areas

  • Molecular Medicine
  • Molecular Biology

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