Mike Cheetham
@cheethamlab.bsky.social
70 followers
87 following
14 posts
Retinal cell biologist studying IRDs.
Likes organoids, Alfa Romeo and Leeds United
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Reposted by Mike Cheetham
Reposted by Mike Cheetham
Reposted by Mike Cheetham
Reposted by Mike Cheetham
Reposted by Mike Cheetham
Reposted by Mike Cheetham
📣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
Reposted by Mike Cheetham
Reposted by Mike Cheetham
Reposted by Mike Cheetham
Delighted to be part of this study led by Julio Corral-Serrano with @elfridedebaere.bsky.social and @carlorivolta.bsky.social
Delighted to be part of this study led by Julio Corral-Serrano with @elfridedebaere.bsky.social and @carlorivolta.bsky.social
Reposted by Mike Cheetham
Mike Cheetham
@cheethamlab.bsky.social
· Feb 13
actaneurocomms.biomedcentral.com/articles/10.... Delighted to share a paper from Michael Whitehead and the rest of the team on OPA1 mediated dominant optic atrophy.
Disruption of mitochondrial homeostasis and permeability transition pore opening in OPA1 iPSC-derived retinal ganglion cells - Acta Neuropathologica Communications
Dominant optic atrophy (DOA) is the most common inherited optic neuropathy, characterised by the selective loss of retinal ganglion cells (RGCs). Over 60% of DOA cases are caused by pathogenic variant...
actaneurocomms.biomedcentral.com
Mike Cheetham
@cheethamlab.bsky.social
· Feb 13
Disruption of mitochondrial homeostasis and permeability transition pore opening in OPA1 iPSC-derived retinal ganglion cells - Acta Neuropathologica Communications
Dominant optic atrophy (DOA) is the most common inherited optic neuropathy, characterised by the selective loss of retinal ganglion cells (RGCs). Over 60% of DOA cases are caused by pathogenic variant...
actaneurocomms.biomedcentral.com
Mike Cheetham
@cheethamlab.bsky.social
· Feb 12
Delighted to share our new publication on modelling childhood blindness in retinal organoids and rescue of some of the phenotypes with small molecules great work by Dimitra Athanasiou and the team actaneurocomms.biomedcentral.com/articles/10....
Small molecule treatment alleviates photoreceptor cilia defects in LCA5-deficient human retinal organoids - Acta Neuropathologica Communications
Bialleleic pathogenic variants in LCA5 cause one of the most severe forms of Leber congenital amaurosis, an early-onset retinal disease that results in severe visual impairment. Here, we report the us...
actaneurocomms.biomedcentral.com
Mike Cheetham
@cheethamlab.bsky.social
· Feb 12
Small molecule treatment alleviates photoreceptor cilia defects in LCA5-deficient human retinal organoids - Acta Neuropathologica Communications
Bialleleic pathogenic variants in LCA5 cause one of the most severe forms of Leber congenital amaurosis, an early-onset retinal disease that results in severe visual impairment. Here, we report the us...
actaneurocomms.biomedcentral.com