Muy orgullosa de formar parte de este equipazo de investigación que estudia una enfermedad ultrarrara #Laforadisease, para dilucidar sus mecanismos moleculares y encontrar un tratamiento. #FEDER_ONG @rarascsic.bskysocial @ibv-csic.bsky social #diamundialdelasenfermedadesraras #rarediseasesday
Super‑resolution images of Epm2b−/− astrocytes matured in culture and of hippocampal astrocytes from 16‑month‑old Epm2b−/− mice. Both sets of images show GFAP‑positive astrocytes (red), glycogen‑positive PGBs (green), and DAPI‑stained nuclei (blue), with magnified insets highlighting the granular PGB structures.
Mireia Moreno-Estellés, Pascual Sanz & co improved their astrocytic model of #LaforaDisease by maturing #astrocytes, showing that they accumulate larger and granular PGBs (insoluble glycogen form), recapitulating key characteristics of the disease.
Read doi.org/10.1242/dmm....
@ibv-csic.bsky.social
Today we honor those living with #LaforaDisease, their families & the researchers striving for breakthroughs. Awareness is the first step toward better care and better therapies. Get Mastermind PRO & access this valuable data: bit.ly/4gUvXWC
After years of heartbreak, Lafora disease families are fueling glycogen storage research breakthroughs, helping develop therapies that may treat not only Lafora but other related neurological disorders. ow.ly/K5AL50WwS4o
#RareDiseaseAwareness #neurosky #neuroskyence #Laforadisease
Matt Gentry & colleagues have developed multiple therapeutics to treat neurological glycogen storage diseases that are currently in preclinical & clinical development. Learn how they are targeting GSDs from 3 different biochemical angles: ow.ly/HOeC50WvBtQ.
#LaforaDisease #neuroskyence
Summer 2025 cover of ASBMB's member magazine ASBMB Today featuring prion protein fibrils. Credit: National Institutes of Health. Text reads biochemical innovations for rare diseases.
📬The summer issue of ASBMB Today is out now! Check your mailbox or read online.
In this issue, we spotlight groundbreaking rare disease research, showcase new trends in undergraduate education & address the role of #AI in the classroom.
ow.ly/Ubj350Wqfcr.
#PrionDisease #LaforaDisease
Tomorrow, I will be speaking at the #NanoRareDiseasesDay organized by Nanomed Spain at @sjdhospitalbarcelona.org. I'll be discussing our efforts to develop a cure for #Laforadisease, a rare neurodegenerative condition.
#Nanomedicine @uramonllull.bsky.social
nanomedspain.net/nrdd2025/
Orgullosa de formar parte de este equipazo de investigación que estudia una enfermedad ultrarrara #Laforadisease, para dilucidar sus mecanismos moleculares y encontrar un tratamiento.@FEDER_ONG @NoInvisibles #diamundialdelasenfermedadesraras
