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RNA binding proteins and protein binding RNAs in ALS and FTD
Published on Oct 01, 20151480 Views
GGGGCC hexanucleotide repeat expansion mutation (HREM) in non-coding region of C9ORF72 gene has recently been identified as the most common genetic cause of devastating incurable neurodegenerative dis
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RNA binding proteins and protein binding RNAs in ALS and FTD00:00
What is amyotrophic lateral sclerosis?01:02
Epidemiology and prognosis01:56
Frontotemporal dementia03:05
Genetic overlap of ALS and FTD04:15
Progress of genetic findings related to ALS etiology and pathogenesis04:50
Mutations in Slovenian ALS patients05:38
Molecular pathology of TDP-43 in FTD06:26
Molecular pathology of TDP-43 in ALS09:24
TDP-43 mutations in ALS09:52
TARDBP mutations10:19
TDP-43 mutations in familial and sporadic ALS10:38
TDP-43 is toxic to neural tissues11:29
FUS mutations in ALS12:20
Three Mutations in FUS in 8 kindreds12:44
FUS mutations in familial ALS13:14
FUS inclusions in patients carrying mutations14:05
FUS mutations affect subcellular localisation14:48
C terminus of FUS contains an NLS15:32
Mutant FUS does not colocalize with P bodies, nuclear speckles, RNA transport granules16:46
Mutant FUS colocalizes with stress granules17:25
C9orf7217:46
C9orf72 mutation18:32
RNA/DNA structures20:16
dG4C2 forms parallel GQs22:12
Uniform structure breaks down with higer repeat number d(G4C2)423:17
Mechanism?24:22
RNA toxicity hypothesis27:58
RNA pulldown28:56
G4C2-RNA pull down from rat brain31:54
Targeted screeing of hnRNPs and other RBPs32:00
RNA foci are dependent on repeat length32:09
SC35, SF2, and hnRNP-H colocalize with G4C2 nuclear foci32:51
RNA foci in C9ORF72 brain tissues colocalize with hnRNP-H33:18
SFPQ Splicing factor, proline- and glutamine-rich33:37
NONO Non-POU domain-containing octamer-binding protein34:20
Colleagues and funding35:05