Monospecific antibodies reveal reduction of granulins in #FrontotemporalDementia caused by GRN mutations
Paola Merino, Ludmilla Troiano Araujo, Anarmaa Mendsaikhan...Thomas Kukar @kukarlab.bsky.social #TDP43 #Progranulin #LysosomalStorageDisorder
link.springer.com/article/10.1...
Paola Merino, Ludmilla Troiano Araujo, Anarmaa Mendsaikhan...Thomas Kukar @kukarlab.bsky.social #TDP43 #Progranulin #LysosomalStorageDisorder
link.springer.com/article/10.1...
Monospecific antibodies reveal reduction of granulins in frontotemporal dementia caused by GRN mutations - Molecular Neurodegeneration Advances
Background Loss-of-function mutations in the progranulin (PGRN) gene (GRN) are a major cause of Frontotemporal dementia (FTD), also known as frontotemporal lobar degeneration (FTLD). PGRN is a lysosom...
link.springer.com
October 8, 2026 at 5:55 PM
Monospecific antibodies reveal reduction of granulins in #FrontotemporalDementia caused by GRN mutations
Paola Merino, Ludmilla Troiano Araujo, Anarmaa Mendsaikhan...Thomas Kukar @kukarlab.bsky.social #TDP43 #Progranulin #LysosomalStorageDisorder
link.springer.com/article/10.1...
Paola Merino, Ludmilla Troiano Araujo, Anarmaa Mendsaikhan...Thomas Kukar @kukarlab.bsky.social #TDP43 #Progranulin #LysosomalStorageDisorder
link.springer.com/article/10.1...
Researchers have linked rare SPNS1 gene mutations to a newly identified multi‑organ disease, publishing the findings in the Journal of Clinical Investigation. https://getnews.me/scientists-link-spns1-mutations-to-rare-multi-organ-disease/ #spns1 #lysosomalstoragedisorder #precisionmedicine
September 20, 2025 at 4:15 PM
Researchers have linked rare SPNS1 gene mutations to a newly identified multi‑organ disease, publishing the findings in the Journal of Clinical Investigation. https://getnews.me/scientists-link-spns1-mutations-to-rare-multi-organ-disease/ #spns1 #lysosomalstoragedisorder #precisionmedicine
#DelayedDiagnosis of alpha-mannosidosis is common especially in mild cases, highlighting the need for early diagnosis to facilitate timely treatment bit.ly/4oTXxpC #GIMO #AlphaMannosidosis #LysosomalStorageDisorder #DiseaseSeverity #RareDisease #EnzymeReplacementTherapy
November 5, 2025 at 9:21 PM
#DelayedDiagnosis of alpha-mannosidosis is common especially in mild cases, highlighting the need for early diagnosis to facilitate timely treatment bit.ly/4oTXxpC #GIMO #AlphaMannosidosis #LysosomalStorageDisorder #DiseaseSeverity #RareDisease #EnzymeReplacementTherapy
My 2yo son has a rare genetic disorder called #nephropathicCystinosis this is considered a #lysosomalstoragedisorder meaning his cells don’t properly dispose of a protein called cystine and when that builds up it creates crystals which cause organ damage. #caretaker #raredisease #momlife #cystinosis
July 25, 2025 at 4:44 PM
My 2yo son has a rare genetic disorder called #nephropathicCystinosis this is considered a #lysosomalstoragedisorder meaning his cells don’t properly dispose of a protein called cystine and when that builds up it creates crystals which cause organ damage. #caretaker #raredisease #momlife #cystinosis
In this issue we have 2 Research papers on mucopolysaccharidosis type IVA - a rare, progressive, inherited #LysosomalStorageDisorder caused by a deficiency of the GALNS enzyme. It causes severe skeletal dysplasia, short stature, joint, respiratory, and heart issues
🧵 Research papers below
🧵 Research papers below
March 12, 2026 at 12:32 PM
In this issue we have 2 Research papers on mucopolysaccharidosis type IVA - a rare, progressive, inherited #LysosomalStorageDisorder caused by a deficiency of the GALNS enzyme. It causes severe skeletal dysplasia, short stature, joint, respiratory, and heart issues
🧵 Research papers below
🧵 Research papers below