An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome-Reference-Cited by-同舟云学术

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An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome

Published:2014-04-30 Issue:2 Volume:23 Page:256-259
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Abdollahpour Hengameh,Alawi Malik,Kortüm Fanny,Beckstette Michael,Seemanova Eva,Komárek Vladimír,Rosenberger Georg,Kutsche Kerstin

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg201473.pdf

Reference20 articles.

1. Abou Jamra R, Philippe O, Raas-Rothschild A et al: Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. Am J Hum Genet 2011; 88: 788–795.

2. Hirst J, Irving C, Borner GH : Adaptor protein complexes AP-4 and AP-5: new players in endosomal trafficking and progressive spastic paraplegia. Traffic 2013; 14: 153–164.

3. McNiven MA, Thompson HM : Vesicle formation at the plasma membrane and trans-Golgi network: the same but different. Science 2006; 313: 1591–1594.

4. Dell'Angelica EC, Mullins C, Bonifacino JS : AP-4, a novel protein complex related to clathrin adaptors. J Biol Chem 1999; 274: 7278–7285.

5. Hirst J, Bright NA, Rous B, Robinson MS : Characterization of a fourth adaptor-related protein complex. Mol Biol Cell 1999; 10: 2787–2802.

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