New from the Kinghorn Lab! 🧠🔬 Our latest preprint shows that in fly 🪰🧬 Gaucher’s & Parkinson’s 🧠 models, kidney dysfunction drives neurodegeneration - supporting emerging links between renal health & Parkinson's. You can read it here:
www.biorxiv.org/content/10.1...
www.biorxiv.org/content/10.1...
Redox Dyshomeostasis Links Renal and Neuronal Dysfunction in Drosophila Models of Gaucher and Parkinson's Disease
Gaucher disease (GD), the most common lysosomal storage disorder, is caused by bi-allelic mutations in the GBA1 gene. Variants in GBA1 also represent the most frequent genetic risk factor for Parkinso...
www.biorxiv.org
August 10, 2025 at 8:10 PM
New from the Kinghorn Lab! 🧠🔬 Our latest preprint shows that in fly 🪰🧬 Gaucher’s & Parkinson’s 🧠 models, kidney dysfunction drives neurodegeneration - supporting emerging links between renal health & Parkinson's. You can read it here:
www.biorxiv.org/content/10.1...
www.biorxiv.org/content/10.1...
New study "suggests a subtle shift toward a more pro-inflammatory gut microbial profile in GBA1+ #Parkinsons participants, characterized by fewer butyrate-producing & more pro-inflammatory bacteria" (20 PD+GBA1− & 16 PD+GBA1+)
movementdisorders.onlinelibrary.wiley.com/doi/10.1002/...
movementdisorders.onlinelibrary.wiley.com/doi/10.1002/...
August 23, 2026 at 11:59 AM
New study "suggests a subtle shift toward a more pro-inflammatory gut microbial profile in GBA1+ #Parkinsons participants, characterized by fewer butyrate-producing & more pro-inflammatory bacteria" (20 PD+GBA1− & 16 PD+GBA1+)
movementdisorders.onlinelibrary.wiley.com/doi/10.1002/...
movementdisorders.onlinelibrary.wiley.com/doi/10.1002/...
Seed amplification analysis of released a-synuclein strains from #Parkinsons-patient derived neurons (iPD, GBA1 N370S, LRRK2 G2019S & SNCA A53T) reveals genotype-specific cellular responses differentially shape the structural properties of released α-syn
www.frontiersin.org/journals/agi...
www.frontiersin.org/journals/agi...
September 25, 2026 at 9:02 AM
Seed amplification analysis of released a-synuclein strains from #Parkinsons-patient derived neurons (iPD, GBA1 N370S, LRRK2 G2019S & SNCA A53T) reveals genotype-specific cellular responses differentially shape the structural properties of released α-syn
www.frontiersin.org/journals/agi...
www.frontiersin.org/journals/agi...
Dissecting the mechanism of African ancestries-enriched GBA1 risk variant for Parkinson's disease (PD). A cool example to remind we shouldn't always expect 1-1 relationship between RNA and protein expression. 1/
Álvarez Jerez, Wild Crea, et al. Nat Struct Mol Bio
www.nature.com/articles/s41...
Álvarez Jerez, Wild Crea, et al. Nat Struct Mol Bio
www.nature.com/articles/s41...
December 15, 2024 at 5:30 AM
Dissecting the mechanism of African ancestries-enriched GBA1 risk variant for Parkinson's disease (PD). A cool example to remind we shouldn't always expect 1-1 relationship between RNA and protein expression. 1/
Álvarez Jerez, Wild Crea, et al. Nat Struct Mol Bio
www.nature.com/articles/s41...
Álvarez Jerez, Wild Crea, et al. Nat Struct Mol Bio
www.nature.com/articles/s41...
it is indeed a splicing variant that results in an intron retention and increased expression of a defective transcript that doesn't code for a functional GBA1 protein (hence explaining the paradoxical association with increased GBA1 RNA expression). 5/
December 15, 2024 at 5:30 AM
it is indeed a splicing variant that results in an intron retention and increased expression of a defective transcript that doesn't code for a functional GBA1 protein (hence explaining the paradoxical association with increased GBA1 RNA expression). 5/
ヤフーフリマで売れた、GBA1時間前に発送止めてくれ、キャンセルではないって…発送してたらどうするつもりだったのか🥺
May 11, 2025 at 4:01 AM
ヤフーフリマで売れた、GBA1時間前に発送止めてくれ、キャンセルではないって…発送してたらどうするつもりだったのか🥺
www.nature.com/articles/s42...
After a long wait, our response to criticism of Gauchian for GBA analysis in Illumina WGS is finally published with @sedlazeck.bsky.social thanks to @asapresearch.parkinsonsroadmap.org
After a long wait, our response to criticism of Gauchian for GBA analysis in Illumina WGS is finally published with @sedlazeck.bsky.social thanks to @asapresearch.parkinsonsroadmap.org
Reply to: Is Gauchian genotyping of GBA1 variants reliable? - Communications Biology
Communications Biology - Reply to: Is Gauchian genotyping of GBA1 variants reliable?
www.nature.com
May 9, 2025 at 9:21 AM
www.nature.com/articles/s42...
After a long wait, our response to criticism of Gauchian for GBA analysis in Illumina WGS is finally published with @sedlazeck.bsky.social thanks to @asapresearch.parkinsonsroadmap.org
After a long wait, our response to criticism of Gauchian for GBA analysis in Illumina WGS is finally published with @sedlazeck.bsky.social thanks to @asapresearch.parkinsonsroadmap.org
New research classifies GBA1 missense variants using predictive & structural scores, & analyses their associations with enzyme activity, Saposin C interaction & #Parkinsons progression in 639 cases with het. GBA1 variants from across 5 cohorts
www.nature.com/articles/s41...
www.nature.com/articles/s41...
August 3, 2025 at 7:46 PM
New research classifies GBA1 missense variants using predictive & structural scores, & analyses their associations with enzyme activity, Saposin C interaction & #Parkinsons progression in 639 cases with het. GBA1 variants from across 5 cohorts
www.nature.com/articles/s41...
www.nature.com/articles/s41...
Changes in the composition of about a quarter of the gut microbial species in people with a variant of the GBA1 gene may indicate that those individuals are more likely to develop Parkinson’s disease, according to a study in Nature Medicine. go.nature.com/488tViC #microbiome 🧬🧪
April 20, 2026 at 7:23 PM
Changes in the composition of about a quarter of the gut microbial species in people with a variant of the GBA1 gene may indicate that those individuals are more likely to develop Parkinson’s disease, according to a study in Nature Medicine. go.nature.com/488tViC #microbiome 🧬🧪
兄弟でゲーム機1人1台は無理な時代になっちゃったよねぇ。GBA1人1台買ってくれた母に感謝って思ったけどあれ定価9800円だったのか。もちろん性能が違うけども！
April 3, 2025 at 12:26 AM
兄弟でゲーム機1人1台は無理な時代になっちゃったよねぇ。GBA1人1台買ってくれた母に感謝って思ったけどあれ定価9800円だったのか。もちろん性能が違うけども！
New paper reports "only severe GBA1-#Parkinsons patients had a distinctive, more several clinical profile, characterised by worse depression, hyposmia, cognitive dysfunction, & possibly constipation" (vs iPD)
www.nature.com/articles/s41...
www.nature.com/articles/s41...
Severe GBA1 variants drive the GBA1-PD clinical phenotype: implications for counselling and clinical trials - npj Parkinson's Disease
npj Parkinson's Disease - Severe GBA1 variants drive the GBA1-PD clinical phenotype: implications for counselling and clinical trials
www.nature.com
October 4, 2025 at 1:08 PM
New paper reports "only severe GBA1-#Parkinsons patients had a distinctive, more several clinical profile, characterised by worse depression, hyposmia, cognitive dysfunction, & possibly constipation" (vs iPD)
www.nature.com/articles/s41...
www.nature.com/articles/s41...
Excited to share our preprint showing loss of Hedgehog signaling in GBA1 mutant cells, converging with LRRK2 mutant phenotypes biorxiv.org/content/earl...
@asapresearch.bsky.social
@asapresearch.bsky.social
Lysosomal Glucocerebrosidase is needed for ciliary Hedgehog signaling: A convergent pathway to Parkinsons disease
Mutations in LRRK2 and GBA1 are the most common genetic causes of familial Parkinsons disease. Previously, we showed that pathogenic LRRK2 mutations inhibit primary cilia formation in rare interneuron...
biorxiv.org
January 21, 2025 at 7:22 PM
Excited to share our preprint showing loss of Hedgehog signaling in GBA1 mutant cells, converging with LRRK2 mutant phenotypes biorxiv.org/content/earl...
@asapresearch.bsky.social
@asapresearch.bsky.social
GBA1 links Gaucher disease & Parkinson’s.
Increasing understanding of GBA1-driven PD pathology has led to promising treatment avenues, including use of virus vectors to deliver glucocerebrosidase to neurons, use of small molecule chaperone proteins, and more.
neurotorium.org/image/gba1-f...
Increasing understanding of GBA1-driven PD pathology has led to promising treatment avenues, including use of virus vectors to deliver glucocerebrosidase to neurons, use of small molecule chaperone proteins, and more.
neurotorium.org/image/gba1-f...
September 11, 2025 at 7:46 AM
GBA1 links Gaucher disease & Parkinson’s.
Increasing understanding of GBA1-driven PD pathology has led to promising treatment avenues, including use of virus vectors to deliver glucocerebrosidase to neurons, use of small molecule chaperone proteins, and more.
neurotorium.org/image/gba1-f...
Increasing understanding of GBA1-driven PD pathology has led to promising treatment avenues, including use of virus vectors to deliver glucocerebrosidase to neurons, use of small molecule chaperone proteins, and more.
neurotorium.org/image/gba1-f...
Cure Parkinson's are delighted to be sponsoring the 2nd annual GBA1 conference in Montreal. The meeting aims to bring together leading experts in the GBA1 Parkinson’s field. Please come and talk to Ellie and Rachel from our research team to find out more about our research grant funding programmes!
June 5, 2025 at 2:01 PM
Cure Parkinson's are delighted to be sponsoring the 2nd annual GBA1 conference in Montreal. The meeting aims to bring together leading experts in the GBA1 Parkinson’s field. Please come and talk to Ellie and Rachel from our research team to find out more about our research grant funding programmes!
GBAviewer: a structural database of GBA1 variants in Parkinson's disease https://www.biorxiv.org/content/10.64898/2026.09.05.749596v1
September 12, 2026 at 4:15 AM
GBAviewer: a structural database of GBA1 variants in Parkinson's disease https://www.biorxiv.org/content/10.64898/2026.09.05.749596v1
Genetic Duo: #ATP13A2 and #GBA1 Interactions Fuel #Neurodegeneration. M. Gu and H Bellen explain their findings. @bcmhouston.bsky.social #TexasChildrens
@molneurodegen.bsky.social @bcmgenetics.bsky.social #BCMPostDoc bioengineer.org/genetic-duo-...
@molneurodegen.bsky.social @bcmgenetics.bsky.social #BCMPostDoc bioengineer.org/genetic-duo-...
Genetic Duo: ATP13A2 and GBA1 Interactions Fuel Neurodegeneration
Parkinson’s disease (PD) ranks as the second most prevalent neurodegenerative disorder following Alzheimer’s disease, impacting more than 10 million individuals globally. The condition manifests thr
bioengineer.org
February 5, 2026 at 5:42 PM
Genetic Duo: #ATP13A2 and #GBA1 Interactions Fuel #Neurodegeneration. M. Gu and H Bellen explain their findings. @bcmhouston.bsky.social #TexasChildrens
@molneurodegen.bsky.social @bcmgenetics.bsky.social #BCMPostDoc bioengineer.org/genetic-duo-...
@molneurodegen.bsky.social @bcmgenetics.bsky.social #BCMPostDoc bioengineer.org/genetic-duo-...
And you can read more about GBA1-associated Parkinson's disease in a Review by Elisa Menozzi and colleagues in our June issue: www.thelancet.com/journals/lan...
New evidence on the clinical, genetic, and biochemical bases of GBA1-Parkinson's disease: prospects for treatment
GBA1 variants are common genetic risk factors for Parkinson's disease and also for
dementia with Lewy bodies. New evidence highlights the relationship between the different
GBA1 variants and their ass...
www.thelancet.com
May 15, 2026 at 8:25 AM
And you can read more about GBA1-associated Parkinson's disease in a Review by Elisa Menozzi and colleagues in our June issue: www.thelancet.com/journals/lan...
Can we salvage GCase to develop better treatments for Parkinson’s and especially GBA1 genetic related Parkinson's? New paper in Movement Disorders how small molecule therapies are being developed to rescue glucocerebrosidase function in GBA1 associated Parkinsonism. #parkinson
December 31, 2025 at 7:57 PM
Can we salvage GCase to develop better treatments for Parkinson’s and especially GBA1 genetic related Parkinson's? New paper in Movement Disorders how small molecule therapies are being developed to rescue glucocerebrosidase function in GBA1 associated Parkinsonism. #parkinson
Researchers reveal a novel mechanistic link between #Parkinsons -associated GBA1 mutations & mitochondrial dysfunction, as the disruption of V-ATPase assembly driven by MTORC1 activation impairs lysosomal acidification. This causes mitophagy impairment
link.springer.com/article/10.1...
link.springer.com/article/10.1...
June 21, 2026 at 7:13 PM
Researchers reveal a novel mechanistic link between #Parkinsons -associated GBA1 mutations & mitochondrial dysfunction, as the disruption of V-ATPase assembly driven by MTORC1 activation impairs lysosomal acidification. This causes mitophagy impairment
link.springer.com/article/10.1...
link.springer.com/article/10.1...
Whole-genome sequencing of 197 #Parkinsons cases reveals novel pathogenic variants in the Indian population; GBA1 & PRKN were the most frequently mutated genes
www.nature.com/articles/s41...
www.nature.com/articles/s41...
July 25, 2026 at 11:27 PM
Whole-genome sequencing of 197 #Parkinsons cases reveals novel pathogenic variants in the Indian population; GBA1 & PRKN were the most frequently mutated genes
www.nature.com/articles/s41...
www.nature.com/articles/s41...
Researchers use imaging data from 171 individuals to model cholinergic & dopaminergic function over time in #Parkinsons with (n=44) & without (n=127) GBA1 variants; No GBA1-related differences were observed in dopaminergic signal or its progression
www.nature.com/articles/s41...
www.nature.com/articles/s41...
November 14, 2025 at 3:28 PM
Researchers use imaging data from 171 individuals to model cholinergic & dopaminergic function over time in #Parkinsons with (n=44) & without (n=127) GBA1 variants; No GBA1-related differences were observed in dopaminergic signal or its progression
www.nature.com/articles/s41...
www.nature.com/articles/s41...
IPS cell-derived midbrain organoids from patients with GBA1-related #Parkinsons develop α-synuclein deposits; Retention of mutant GCase in the ER & the increase of GlcCer are key drivers of this pathology; Ambroxol & GZ667161 reduce the α-syn deposits
academic.oup.com/brain/advanc...
academic.oup.com/brain/advanc...
November 24, 2024 at 12:45 AM
IPS cell-derived midbrain organoids from patients with GBA1-related #Parkinsons develop α-synuclein deposits; Retention of mutant GCase in the ER & the increase of GlcCer are key drivers of this pathology; Ambroxol & GZ667161 reduce the α-syn deposits
academic.oup.com/brain/advanc...
academic.oup.com/brain/advanc...
New review summarizes the current understanding of the biological mechanisms linking GBA1 to #Parkinsons, including both loss-of-function & gain-of-function hypotheses; Also clinical & translational advances
academic.oup.com/brain/advanc...
academic.oup.com/brain/advanc...
September 23, 2026 at 2:44 AM
New review summarizes the current understanding of the biological mechanisms linking GBA1 to #Parkinsons, including both loss-of-function & gain-of-function hypotheses; Also clinical & translational advances
academic.oup.com/brain/advanc...
academic.oup.com/brain/advanc...
Useful review of the small-molecule therapies field for GBA1-associated #Parkinsons; "Clinical trials of GBA1-modulating therapeutics will be challenging with regard to the optimal timing of the intervention & appropriate outcome parameters"
movementdisorders.onlinelibrary.wiley.com/doi/10.1002/...
movementdisorders.onlinelibrary.wiley.com/doi/10.1002/...
December 30, 2025 at 6:18 PM
Useful review of the small-molecule therapies field for GBA1-associated #Parkinsons; "Clinical trials of GBA1-modulating therapeutics will be challenging with regard to the optimal timing of the intervention & appropriate outcome parameters"
movementdisorders.onlinelibrary.wiley.com/doi/10.1002/...
movementdisorders.onlinelibrary.wiley.com/doi/10.1002/...
New paper reports the functional effect of the African ancestry-specific GBA1 non-coding #Parkinsons risk variant; It interferes with splicing of functional GBA1 transcripts, resulting in ⬇️protein &⬇️GCase activity
www.nature.com/articles/s41...
www.nature.com/articles/s41...
December 13, 2024 at 9:47 AM
New paper reports the functional effect of the African ancestry-specific GBA1 non-coding #Parkinsons risk variant; It interferes with splicing of functional GBA1 transcripts, resulting in ⬇️protein &⬇️GCase activity
www.nature.com/articles/s41...
www.nature.com/articles/s41...