Elke Braems
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View article: TUBA4A downregulation as observed in ALS post-mortem motor cortex causes ALS-related abnormalities in zebrafish
TUBA4A downregulation as observed in ALS post-mortem motor cortex causes ALS-related abnormalities in zebrafish Open
Disease-associated variants of TUBA4A (alpha-tubulin 4A) have recently been identified in familial ALS. Interestingly, a downregulation of TUBA4A protein expression was observed in familial as well as sporadic ALS brain tissue. To investig…
View article: Antisense, but not sense, repeat expanded RNAs activate PKR/eIF2α-dependent ISR in C9ORF72 FTD/ALS
Antisense, but not sense, repeat expanded RNAs activate PKR/eIF2α-dependent ISR in C9ORF72 FTD/ALS Open
GGGGCC (G 4 C 2 ) hexanucleotide repeat expansion in the C9ORF72 gene is the most common genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). The repeat is bidirectionally transcribed and confers gain of …
View article: Author response: Antisense, but not sense, repeat expanded RNAs activate PKR/eIF2α-dependent ISR in C9ORF72 FTD/ALS
Author response: Antisense, but not sense, repeat expanded RNAs activate PKR/eIF2α-dependent ISR in C9ORF72 FTD/ALS Open
View article: CRISPR/Cas9 screen in human iPSC‐derived cortical neurons identifies NEK6 as a novel disease modifier of <i>C9orf72</i> poly(PR) toxicity
CRISPR/Cas9 screen in human iPSC‐derived cortical neurons identifies NEK6 as a novel disease modifier of <i>C9orf72</i> poly(PR) toxicity Open
Introduction The most common genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are hexanucleotide repeats in chromosome 9 open reading frame 72 ( C9orf72) . These repeats produce dipeptide repeat protei…
View article: HNRNPK alleviates RNA toxicity by counteracting DNA damage in C9orf72 ALS
HNRNPK alleviates RNA toxicity by counteracting DNA damage in C9orf72 ALS Open
View article: C9orf72 loss-of-function: a trivial, stand-alone or additive mechanism in C9 ALS/FTD?
C9orf72 loss-of-function: a trivial, stand-alone or additive mechanism in C9 ALS/FTD? Open