GPSolis

Senior Researcher - Molecular Cell Biology - Believer in Biology
#Science #CellBiology #GPCR #GNAO1 #RareDisease #EERR

[GPSolis @solis_gp]

Well done as usual @yonikalarasati Let's keep working and doing pulldowns 😅

[Yonika Arum Larasati @yonikalarasati]

Our new paper on YWHAG-neurodevelopmental disorders is out! 🧬
https://t.co/8xN4jE8Cwj
We uncovered molecular defects in 14-3-3γ variants & built a novel BRET assay for binding analysis—now a platform for drug discovery.

Huge thanks to the team @solis_gp et al! 🙌
@Cells_MDPI

[RarasNoInvisibles @NoInvisibles]

Es #DiaMundialContraLaPolio
#WorldPolioDay
El objetivo es decir #FindelaPolio #EndPolio
…y no olvidar a los que no recibieron la vacuna
#PostPolio
Info @EndPolioNow👇🏻
https://t.co/0EBKVQhN4w

[Katharine Birbalsingh @Miss_Snuffy]

Too damn right. 😂

[GPSolis @solis_gp]

The first-in-human study of #Zinc supplementation in #GNAO1 related encephalopathy is out @MedCellPress https://t.co/MhfQTHATg9
Congrats @yonikalarasati and @Thiel_Mo
Let's hope the clinical trial bring some good news in the near future 🙏

[GPSolis @solis_gp]

Happy to see our last paper @jclinicalinvest highlighted in @unige_en The more we look, the more surprises we found in @GNAO1 mutations. The end goal is to get some help for the patients 🙏
https://t.co/qMS2xU4KLm

[UNIGE_en @unige_en]

GNAO1 encephalopathies, which cause epilepsy and intellectual disability from birth, are linked to mutations in the GNAO1 gene. Professor Katanaev's team has discovered that certain mutations grant a new function to the protein encoded by the GNAO1 gene.
https://t.co/x5toTjJae5

[GPSolis @solis_gp]

Happy to see our last paper @jclinicalinvest highlighted in @UNIGEnews The more we look, the more surprises we found in @GNAO1 mutations. The end goal is to get some help for the patients 🙏
https://t.co/qMS2xU4KLm

[Université de Genève @UNIGEnews]

Les encéphalopathies GNAO1, causant épilepsie et déficience intellectuelle 🧠 dès la naissance, sont liées à des mutations du gène GNAO1 🧬. L'équipe de Vladimir Katanaev, professeur à la Faculté de médecine, a découvert que certaines mutations confèrent une nouvelle fonction à la protéine codée par le gène GNAO1. Une avancée clé pour de futurs traitements.

Plus d’infos 👉 https://t.co/faDkAoIQSd

#GNAO1 #recherche #maladiesrares #médecine

[GPSolis @solis_gp]

@arghavankz And there is another one coming with some plasmids you cloned for us, so stay tuned !!! 😎

[GNAO1 España @Gnao1Espana]

Nuevo estudio #GNAO1!!
Gracias equipo investigador!!🙌🔬

[GNAO1 España @Gnao1Espana]

Gracias @yonikalarasati y equipo por vuestro nuevo artículo #GNAO1 y por colaborar para su desarrollo con otros equipos de investigación.
Somos muy afortunados de contar con vuestro trabajo🙌🙏!!

👇👇📋👩‍🔬👇👇

[GNAO1 España @Gnao1Espana]

Ayer y hoy estamos disfrutando esperanzados con la Conferencia #GNAO1 organizada por @GNAO1Bow en Boston.
Médicos e investigadores de todo el mundo con un único objetivo,entender nuestra enfermedad y conseguir tratamientos y terapias efectivos🤞🤞🤞.

[Yonika Arum Larasati @yonikalarasati]

https://t.co/DoNDE6z7X3
Our collaborative work with Spanish clinicians demonstrates a genotype-phenotype correlation in the Spanish cohort of patients.
Many thanks to @Gnao1Espana who funded our research.
Cheers to the GNAO1 team @solis_gp 🥳

@MDJ_Journal

[GPSolis @solis_gp]

Our last study describing the neomorphic nature of #GNAO1 mutations is finally out
https://t.co/P7lMRBfVZH
Congrats @arghavankz and thanks, your contribution was great and you are dearly missed in the lab!!!
#GPCR #RareDisease #EERR

[GPSolis @solis_gp]

@UNIGEnews @unige_en

[GPSolis @solis_gp]

Raising awareness #RareDiseaseDay2024

[Beacon for Rare Diseases @RareBeacon]

⏰ Just one day to go until #RareDiseaseDay 2024!

#DidYouKnow there are 6000+ known rare diseases?

Visit https://t.co/NcPf3U6RNP for key statistics on rare conditions. 🦓

#ShareYourColours

[GPSolis @solis_gp]

#RareDiseaseDay #GNAO1

[Rare Disease Day @rarediseaseday]

🚨 IT'S RARE DISEASE DAY GLOBALLY! 🚨 Join us marking #RareDiseaseDay 2024! Spread awareness, share stories, and support those living with rare diseases. Together, we make a lasting impact! #ShareYourColours

[GPSolis @solis_gp]

Hoy es el día mundial de las enfermedades raras #EERR "Raras pero no invisibles"
Bringing awareness to rare diseases, today if the Rare Disease Day

[RarasNoInvisibles @NoInvisibles]

#29F #RareDiseaseDay
#DiaMundialEnfermedadesRaras
Nacimos con el documental q nos dio nombre
“Raras pero no invisibles”⤵️
https://t.co/XLjmOJikEX
Y somos una ventana, abierta para q las #EERR sean visibles, compartir dolor y esperanza, reivindicar, aportar, apoyar.
Y… seguimos🤗

[GPSolis @solis_gp]

Aquí junto a @yonikalarasati caracterizamos dos curiosas #GNAO1 mutaciones que producen síntomas hipocinético típicos de parkinsonismo, expandiendo así el espectro fenotípico de la encefalopatía GNAO1. En colaboración con @Thiel_Mo

[Yonika Arum Larasati @yonikalarasati]

New story on #GNAO1 🤓https://t.co/QK2BtqeDcs
Glad to contribute to this story, led by @solis_gp and Prof. Katanaev!
We characterized two #GNAO1 variants with hypokinetic phenotypes, instead of the more common hyperkinetic movement disorders.

[GPSolis @solis_gp]

Great job and a speedy peer review @yonikalarasati 😉

[GPSolis @solis_gp]

Aquí el preprint del primer caso clínico de un tratamiento con Zinc y que variantes de GNAO1 respend a Zinc.
Read this #preprint on @researchsquare: Zinc for #GNAO1 encephalopathy: preclinical profiling and a clinical case https://t.co/3VBgaktpmw

[GPSolis @solis_gp]

Aquí el preprint del primer caso clínico de un tratamiento con Zinc y que variantes de GNAO1 respend a Zinc.
Read this #preprint on @researchsquare: Zinc for #GNAO1 encephalopathy: preclinical profiling and a clinical case https://t.co/3VBgaktpmw