A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration

Nadirah Damseh, Chris M Danson, Motee Al-Ashhab, Bassam Abu-Libdeh, Matthew Gallon, Kanchan Sharma, Barak Yaacov, Maeve A Caldwell, Simon Edvardson, Peter J Cullen, Orly Elpeleg, Elizabeth Coulthard

School of Biochemistry
Stem Cells and Neuroregeneration Research Group
Bristol Neuroscience
Bristol Medical School (THS)
Cancer
Dynamic Cell Biology

Research output: Contribution to journal › Article (Academic Journal) › peer-review

40 Citations (Scopus)

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Analysing the cell biology of Parkinson's Disease-linked missense mutation in the retromer VPS35 subunit.
Cullen , P. J. (Principal Investigator)
1/10/13 → 30/09/16
Project: Research
Defining the mechanistic and functional details of an evolutionarily conserved non-canonical retromer pathway.
Cullen , P. J. (Principal Investigator)
12/12/11 → 12/12/14
Project: Research

A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration

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Analysing the cell biology of Parkinson's Disease-linked missense mutation in the retromer VPS35 subunit.

Defining the mechanistic and functional details of an evolutionarily conserved non-canonical retromer pathway.