Julio Corral-Serrano
@jcorralserrano.bsky.social
Cilia and retina biology 🧫
Reposted by Julio Corral-Serrano
@karkam.bsky.social (#1919) presented exciting discoveries on AP-5 disease at at #ARVO2025 This is a novel Lysosomal Macular Dystrophy and also defines a new RPE disease. Great collaboration of the ERDC www.erdc.info @carlorivolta.bsky.social
#maculardystrophy #lysosomal #AP5 #RPEdisease
#maculardystrophy #lysosomal #AP5 #RPEdisease
May 5, 2025 at 10:07 PM
@karkam.bsky.social (#1919) presented exciting discoveries on AP-5 disease at at #ARVO2025 This is a novel Lysosomal Macular Dystrophy and also defines a new RPE disease. Great collaboration of the ERDC www.erdc.info @carlorivolta.bsky.social
#maculardystrophy #lysosomal #AP5 #RPEdisease
#maculardystrophy #lysosomal #AP5 #RPEdisease
Reposted by Julio Corral-Serrano
🌟 Big thanks to Viki Kalatzis for organizing & hosting the @progret2024.bsky.social training workshops, and social program in Montpellier making the training week a great success!
👍 Thanks to Rob Collin for coordinating the RT on stem cell and animal models of dominant #IRD & to everyone involved!
👍 Thanks to Rob Collin for coordinating the RT on stem cell and animal models of dominant #IRD & to everyone involved!
April 3, 2025 at 9:49 PM
🌟 Big thanks to Viki Kalatzis for organizing & hosting the @progret2024.bsky.social training workshops, and social program in Montpellier making the training week a great success!
👍 Thanks to Rob Collin for coordinating the RT on stem cell and animal models of dominant #IRD & to everyone involved!
👍 Thanks to Rob Collin for coordinating the RT on stem cell and animal models of dominant #IRD & to everyone involved!
Reposted by Julio Corral-Serrano
Now in print and open access. Thanks @ajhgnews.bsky.social for feature in Editors Corner 🧪🧫🧬
📣New from Gardner et al.
📄Inter-chromosomal insertions at Xq27.1 associated with retinal dystrophy induce dysregulation of LINC00632 and CDR1as/ciRS-7
📄Inter-chromosomal insertions at Xq27.1 associated with retinal dystrophy induce dysregulation of LINC00632 and CDR1as/ciRS-7
Inter-chromosomal insertions at Xq27.1 associated with retinal dystrophy induce dysregulation of LINC00632 and CDR1as/ciRS-7
Inter-chromosomal insertions within a palindrome on Xq27 are associated with rare
X-linked diseases, but how they cause disease is unknown. We describe two retinal
dystrophy families with different in...
www.cell.com
March 6, 2025 at 5:31 PM
Now in print and open access. Thanks @ajhgnews.bsky.social for feature in Editors Corner 🧪🧫🧬
Reposted by Julio Corral-Serrano
Big thank you 🙏 to Julio Corral-Serrano @cheethamlab.bsky.social @carlorivolta.bsky.social @hardcastlelab.bsky.social @elfridedebaere.bsky.social & many colleagues. Funded by @moorfieldsbrc.bsky.social @wellcometrust.bsky.social @iobswiss.bsky.social @ugent-fge.bsky.social JTC EJPRD Solve-RET FWO
March 3, 2025 at 2:37 PM
Big thank you 🙏 to Julio Corral-Serrano @cheethamlab.bsky.social @carlorivolta.bsky.social @hardcastlelab.bsky.social @elfridedebaere.bsky.social & many colleagues. Funded by @moorfieldsbrc.bsky.social @wellcometrust.bsky.social @iobswiss.bsky.social @ugent-fge.bsky.social JTC EJPRD Solve-RET FWO
Reposted by Julio Corral-Serrano
Great multidisciplinary collaboration from the European Retinal Disease Consortium showing clinical variability of dominant ARL3-IRD and ARL3 dysfunction in iPSC-RPE and retinal organoids, for the first time, highlighting its role for retinal homeostasis
#ARL3 #G70E #retina #RPE #organoids #ERDC
#ARL3 #G70E #retina #RPE #organoids #ERDC
March 3, 2025 at 2:37 PM
I'm very proud and happy to share our work of many (many!) years, on a novel ARL3-G70E variant, linked to IRD. 🎉
📖 Read the full paper here:
academic.oup.com/hmg/advance-...
#ARL3 #retina #cilia #RPE #organoids
🧵
📖 Read the full paper here:
academic.oup.com/hmg/advance-...
#ARL3 #retina #cilia #RPE #organoids
🧵
A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models
Abstract. Inherited retinal dystrophies (IRDs) are characterized by their high clinical and genetic heterogeneity. Despite significant advances in the iden
academic.oup.com
March 3, 2025 at 7:45 PM
I'm very proud and happy to share our work of many (many!) years, on a novel ARL3-G70E variant, linked to IRD. 🎉
📖 Read the full paper here:
academic.oup.com/hmg/advance-...
#ARL3 #retina #cilia #RPE #organoids
🧵
📖 Read the full paper here:
academic.oup.com/hmg/advance-...
#ARL3 #retina #cilia #RPE #organoids
🧵