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SUMMARY:ARPP21 mutations reveal the role of RNA granule dysfunction in ALS
  and FTD - Christopher E Shaw\, King's College London
DTSTART:20190116T100000Z
DTEND:20190116T110000Z
UID:TALK117478@talks.cam.ac.uk
CONTACT:Gabriella Heller
DESCRIPTION:Amyotrophic Lateral Sclerosis (ALS) and fronto-temporal lobar 
 dementia (FTD) are associated with the pathological aggregation of protein
 s involved in RNA processing\, most commonly TDP-43 and rarely FUS. Many o
 ther mutant genes can contribute to TDP-43 aggregation and some of these a
 re also directly involved in RNA processing (ATXN2\, hnRNPA1\, hnRNPA2B1 a
 nd MATR3).\n\nI will present unpublished evidence that novel variants in A
 RPP21 are associated with ALS and FTD. ARPP21 encodes a neuronally express
 ed\, cytoplasmic RNA-binding protein involved in mRNA transport. Mutations
  increase the propensity of ARPP21 and TDP-43 to aggregate and become inso
 luble in an RNA-binding dependent manner. Mutations disrupt RNA granule tr
 ansport in primary neurons and enhance neurotoxicity in the Drosophila eye
 . This discovery reveals new insights into the role of RNA granule dysfunc
 tion in ALS and FTD and challenges several assumptions about the pathophys
 iology of these neurodegenerative disorders.\n
LOCATION:Department of Chemistry\, Cambridge\, Unilever lecture theatre
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