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Organizing the fluid membrane bilayer: diseases linked to spectrin and ankyrin.

Publication ,  Journal Article
Bennett, V; Healy, J
Published in: Trends Mol Med
January 2008

Ankyrin and spectrin were first discovered as binding partners in the membrane skeleton of human erythrocytes. Mutations in genes encoding these proteins cause hereditary spherocytosis. Recent advances reveal that ankyrin and spectrin are required for organization of a surprisingly diverse set of proteins, including ion channels and cell adhesion molecules that are localized in specialized membrane domains in many cell types. New insights into the cell biology of ankyrin and spectrin reveal that these proteins actively participate in assembly of specialized membrane domains in addition to their conventional maintenance role as scaffolding proteins. Recently described inherited human diseases due to defects in spectrin or ankyrin include spinocerebellar ataxia type 5 and a cardiac arrhythmia, termed sick sinus syndrome with bradycardia or ankyrin-B syndrome. Together, these studies identify an emerging paradigm for pathogenesis of human disease where failure in cellular localization of membrane-spanning proteins results in loss of physiological function.

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Published In

Trends Mol Med

DOI

ISSN

1471-4914

Publication Date

January 2008

Volume

14

Issue

1

Start / End Page

28 / 36

Location

England

Related Subject Headings

  • Spectrin
  • Mutation
  • Membrane Proteins
  • Membrane Fluidity
  • Immunology
  • Humans
  • Genetic Predisposition to Disease
  • Ankyrins
  • 42 Health sciences
  • 32 Biomedical and clinical sciences
 

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Bennett, V., & Healy, J. (2008). Organizing the fluid membrane bilayer: diseases linked to spectrin and ankyrin. Trends Mol Med, 14(1), 28–36. https://doi.org/10.1016/j.molmed.2007.11.005
Bennett, Vann, and Jane Healy. “Organizing the fluid membrane bilayer: diseases linked to spectrin and ankyrin.Trends Mol Med 14, no. 1 (January 2008): 28–36. https://doi.org/10.1016/j.molmed.2007.11.005.
Bennett V, Healy J. Organizing the fluid membrane bilayer: diseases linked to spectrin and ankyrin. Trends Mol Med. 2008 Jan;14(1):28–36.
Bennett, Vann, and Jane Healy. “Organizing the fluid membrane bilayer: diseases linked to spectrin and ankyrin.Trends Mol Med, vol. 14, no. 1, Jan. 2008, pp. 28–36. Pubmed, doi:10.1016/j.molmed.2007.11.005.
Bennett V, Healy J. Organizing the fluid membrane bilayer: diseases linked to spectrin and ankyrin. Trends Mol Med. 2008 Jan;14(1):28–36.
Journal cover image

Published In

Trends Mol Med

DOI

ISSN

1471-4914

Publication Date

January 2008

Volume

14

Issue

1

Start / End Page

28 / 36

Location

England

Related Subject Headings

  • Spectrin
  • Mutation
  • Membrane Proteins
  • Membrane Fluidity
  • Immunology
  • Humans
  • Genetic Predisposition to Disease
  • Ankyrins
  • 42 Health sciences
  • 32 Biomedical and clinical sciences