References

Useful Sources:

Websites:

• Choroideremia Research Foudation
• emedicine
• Wikipedia Encyclopedia
• Flickr
• Wiki Commons

 

Books:

Molecular Biology of the Cell 4th Edition - Alberts, B., et al 2002

Basic Pathology: An introducation to the mechanisms of disease 3rd Edition - Lakhani, S. R., et al 2003

 

Further Reading:

Corbeel and Freson (2008)

Rab proteins and Rab-associated proteins: major actors in the mechanism of protein-trafficking disorders

Eur. J. Pediatr. 167:723-729

 

Stenmark et al (2009)

Rab GTPases as co-ordinators of vesicle traffic

Nat. Rev. Mol. Cell. Biol 10(8):513-525

 

Grosshans et al (2006)

Rabs and their effectors: Acheiving specificity in membrane traffic

Proc. Natl. Acad. Sci. U.S.A. 103(32):11821-11827

 

Choroideremia:

Alory and Balch (2001)

Organisation of the Rab-GDI/CHM superfamily: the functional basis for Choroideremia disease

Traffic 2:532-543

 

Seabra et al (1995)

Deficient Gernylgeranylation of Ram/Rab27 in Choroideremia

J. Biol. Chem. 270(41):24420-24427

 

Griscelli syndrome type 2

Pastural et al (1997)

Griscelli disease maps to chromosome 15q21 and is associated with mutations in the Myosin-Va gene.

Nat. Genet. 16(3):289-92.

 

Menasche et al (2000)

Mutations in RAB27A cause Griscelli Syndrome associated with haemophagocytic syndrome

Nat. Genet. 25(2):173-176.