Sarah Gersing

PhD student at #LinderstrømLang Center for Protein Science, @BIO_UCPH

[Sarah Gersing @s_gersing]

Happy to share our preprint on glucokinase variant activity. Using a yeast complementation assay, we assessed the activity of 97% of all missense and nonsense GCK variants, and find that ~50% of variants decrease activity and ~14% increase activity. 1/4

[bioRxiv @biorxivpreprint]

A multiplexed assay of human glucokinase reveals thousands of potential disease variants with both decreased and increased activity https://t.co/GhkmLzqA72 #bioRxiv

[Sarah Gersing @s_gersing]

Happy to share the final study of my PhD on GCK variant effects.

[Kresten Lindorff-Larsen @LindorffLarsen]

New work led by @s_gersing in @rasmushartmannp lab describes a multiplexed assay for variant effects on protein abundance for glucokinase, that together with her earlier work on GCK activity helps explain mechanisms for GCK gain & loss of function variants
https://t.co/z4G4t9pV8X

[Verena Kohler @_VerenaKohler]

I am beyond excited that my main #postdoc project is now online! If you are interested in #proteostasis, #quiescence, #translation or all of the above, make sure to check it out!

https://t.co/XKlEW2DJUF

#Hsp104 #Disaggregation #PaperAlert #NewPublication

[Kresten Lindorff-Larsen @LindorffLarsen]

In a new preprint we explore the mechanistic basis of why missense variants in GCK cause loss of function and GCK maturity-onset diabetes of the young

Work led by @s_gersing in @rasmushartmannp lab & w @TKSchulze, @CagiadaMatteo, @_amelie_rocks & @FPRoth

https://t.co/Qxcy7gNbrE

[Genome Biology @GenomeBiology]

New research from @s_gersing @rasmushartmannp @LindorffLarsen @FPRoth & co. providing a comprehensive map of human glucokinase variant activity, thereby facilitating variant interpretation & diagnosis & informing development of GCK-targeted therapeutics

https://t.co/VlijFUzc6X

[Brotman Baty @BrotmanBaty]

📢 Happening tomorrow ! Join us live for the Variant Effects Seminar, hosted by @varianteffects with @s_gersing and @calhoujd
🗓️August 2nd at 9am Pacific
Learn more here: https://t.co/GyxzEFeZ4j
#PrecisionMedicine #diabetes #epilepsy #varianteffectmapping #seminar

[Sarah Gersing @s_gersing]

@ArthurZalevsky GCK is quite special in that way, as it is finely tuned to maintain appropriate blood glucose levels. Activating mutations are therefore also pathogenic.

[Sarah Gersing @s_gersing]

Happy to share our preprint on glucokinase variant activity. Using a yeast complementation assay, we assessed the activity of 97% of all missense and nonsense GCK variants, and find that ~50% of variants decrease activity and ~14% increase activity. 1/4

[bioRxiv @biorxivpreprint]

A multiplexed assay of human glucokinase reveals thousands of potential disease variants with both decreased and increased activity https://t.co/GhkmLzqA72 #bioRxiv

[Sarah Gersing @s_gersing]

This work was done together with @CagiadaMatteo, Marinella Gebbia, Anette P. Gjesing, Gireesh Seesankar, @_amelie_rocks, @annagloyn, Torben Hansen, @FPRoth, @LindorffLarsen and Rasmus Hartmann-Petersen, and is a contribution from the #PRISM centre funded by @novonordiskfond. 4/4

[Sarah Gersing @s_gersing]

Our work may aid in interpreting variants to diagnose GCK-MODY and refining drugs targeting GCK through an increased understanding of the allosteric activator site. 3/4

[Sarah Gersing @s_gersing]

Excited that our paper on ASPA C152W is finally out in @PLOSGenetics! This project was a great learning experience for me - looking forward to learning a lot more!

[Kresten Lindorff-Larsen @LindorffLarsen]

Our paper on mapping the degradation pathway of a disease-linked variant in aspartoacylase is now out in @PLOSGenetics 🎉 The work was led by @s_gersing in Rasmus Hartmann-Petersen's lab https://t.co/pJoWoiZwef 1/n

[Kresten Lindorff-Larsen @LindorffLarsen]

New preprint on the chaperone-mediated proteasomal degradation of a Canavan’s disease-linked variant of aspartoacylase (ASPA). Work lead by @s_gersing from Rasmus Hartmann-Petersen’s lab, and also with other members of our @novonordiskfond funded #PRISM centre. Comments welcomed.