New in @NatureComms: I'm thrilled to share with you our latest work that applies #srRNAseq to understand splicing accuracy across human introns, tissues and in the context of ageing and neurodegeneration

Out now! Excited to share and grateful for all the work and collaboration on this one. 🎉

If you like ggtranscript, you will definitely like this web-based tool to visualize transcripts, written by Bernardo Aguzzoli Heberle from the Ebbert lab

Long-read transcriptomic identification of synaptic adaptation to amyloid pathology in the AppNL-G-F knock-in mouse model of the earliest phase of Alzheimer’s disease

Traditional short-read sequencers have limited our ability to fully characterize how GWAS variants exert their effects on gene expression regulation or alternative splicing in response to pathology, particularly by inaccurate detection of splicing 1/8

New research suggests nonlysosomal roles for #Parkinsons-associated GBA1 & its highly homologous pseudogene GBAP1 "with implications for our understanding of the role of GBA1 in health & disease" - from @em_ka_gu et al; Concealment of GBA1 by GBAP1 https://t.co/1aooz5W3Q6

Finally in print! I really think there is more to this "pseudo"gene. This has been such a nice collaborative effort and am really grateful to all that has been part of this story @ASAP_Research @PD_BrainMap @PD_Progression @ATransposons #GBA1 #GBAP1 #PD

Targeted @PacBio Iso-Seq identifies novel SNCA transcripts in human dopaminergic neurons, many with novel UTRs and encodes novel peptides, and used to design antisense oligonucleotides (ASO) leading to the effective reversal of Parkinson's Disease (PD) pathology

In dopamine neurons, 10% of SNCA expression encodes novel open reading frames. Understanding the 3' UTRstructures enabled targeted ASO design, reversing key PD pathologies. #Parkinsons #SNCA #ASO

This is a very exciting opportunity and will involve long-read RNA and DNA sequencing in neurodegeneration.

This #WorldParkinsonsDay, a new study led by Emil Gustavsson @em_ka_gu (@UCLIoN @UCLchildhealth), published in @TheLancetNeuro, has uncovered a newly identified genetic mutation associated with Parkinson’s disease. Find out more ⬇️

So happy to see our RAB32 article out today on #WorldParkinsonsDay. We found RAB32 Ser71Arg in multiple ethnic groups, with the same haplotype. This makes me think it might not be that rare, relatively. This finding also implicate #LRRK2 kinase across multiple Mendelian forms.

Preprint out now! Excited to announce that our manuscript titled "African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1" can now be found here https://t.co/W0t0Vyznpu .

"I am truly excited to lead our brilliant team of researchers and collaborators in pushing the boundaries of science and unlocking vital understanding." New UK DRI at Cambridge Director Prof Mina Ryten in @CambridgeIndy ⬇️ https://t.co/yXBag8ROos

Many great colleagues and collaborators has made this a great piece of work @jordan_follett @MatthewJFarrer @LRRK2_central @huwmorris and many others.

We find this variant across multiple ethnicities and is shared by a common haplotype🧬. RAB32 potentially unify the etiopathogenesis of multiple monogenic forms of PD.

Almost 7 years in the works‼️ Finally, our work describing a pathogenic variant in RAB32 as a cause of autosomal dominant Parkinsons disease, which activates LRRK2 kinase, is out.

Delighted to support the work of Emil Gustavsson @em_ka_gu & Matt Farrer to characterize a pathogenic variant of Rab32 that causes autosomal #Parkinson and activates #LRRK2 https://t.co/W2iv9dkoK7

Work by @ZhongboC @Macpherson_HL @KylieScientist @pilaralvjer @cornelisblauw @arianna_tucci @DavidPellerin_2 and many others

Great start to the year! Our manuscript identifying a GGC repeat expansion in ZFHX3 as the cause of Spinocerebellar Ataxia Type 4. We identified this through the use adaptive Long‐Read Sequencing.