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Pierre Mattar

@pierre-mattar

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04.09.2023
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Latest posts by Pierre Mattar @pierre-mattar

Woot!!! Congrats to you and the team

12.03.2026 16:07 👍 1 🔁 1 💬 0 📌 0
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Cell-intrinsic vulnerability and immune activation cooperate to drive degeneration in a mitochondrial complex I deficiency model of optic neuropathy - Journal of Neuroinflammation Journal of Neuroinflammation - Mitochondrial dysfunction is a central hallmark of many optic neuropathies, yet the mechanisms linking intrinsic metabolic stress to retinal ganglion cell (RGC)...

New paper out! 🚨
We show that Ndufs4 loss triggers retinal neurodegeneration through a phased process.
A new window into neuroimmune mechanisms in mitochondrial disease: link.springer.com/article/10.1...

12.03.2026 16:03 👍 7 🔁 1 💬 1 📌 0

*THE best

11.03.2026 21:53 👍 1 🔁 0 💬 0 📌 0
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The 2026 Visual System Development GRC and GRS are fast approaching. Jeremy Kay, Kristen Kwan, Robert Johnston, and I have built an exciting program that we hope you will enjoy. Looking forward to seeing everyone at the meeting this summer in beautiful Maine. Register and RT!

10.03.2026 19:00 👍 22 🔁 13 💬 0 📌 2
Muller glia (green) regulate local retinoic acid signalling to specialise photoreceptor outer segments (magenta)for high acuity visual function

Muller glia (green) regulate local retinoic acid signalling to specialise photoreceptor outer segments (magenta)for high acuity visual function

Excited to share our new manuscript from the Yoshimatsu and MacDonald labs. www.biorxiv.org/content/10.6.... We found that my favourite glial cells can regulate local retinoic acid signalling to specialise cone photoreceptors for high acuity visual function.

03.03.2026 16:20 👍 34 🔁 11 💬 1 📌 1
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A cell fate specification and transition mechanism for human foveolar cone subtype patterning | PNAS In the central region of the human retina, the high-acuity foveola is notable for its dense packing of green (M) and red (L) cones and absence of b...

I'm excited to share our PNAS paper from 1st author Kasia Hussey. We study how the foveola, the high acuity region of the retina, is patterned by RA and TH. We were surprised to find that cone subtypes appear to convert fates. Our studies are important for AMD sufferers. www.pnas.org/doi/10.1073/...

25.02.2026 17:47 👍 27 🔁 11 💬 3 📌 1

That’s the most realistic retinal organoid I’ve ever… oh - wait…

25.02.2026 18:08 👍 1 🔁 0 💬 0 📌 0
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Oriented cell divisions induce basal progenitors and regulate neural expansion across tissues and species A fundamental role for division orientation in progenitor output driving cortical and retinal growth is revealed.

Happy to announce that our latest paper is now out! Have you ever wondered how neural tissues control their size? In this paper, we show that cell division orientation is critical in both the cortex and retina. www.science.org/doi/10.1126/...

04.02.2026 19:16 👍 92 🔁 31 💬 5 📌 2
Sox8 and Sox9 regulate differentiation and nuclear positioning of retinal Müller glia Temporal patterning of retinal progenitor cells governs the sequential generation of retinal cell types, with gliogenesis occurring late in development. Sox8 and Sox9, members of the SoxE transcription factor family, are highly expressed in late-stage retinal progenitor cells and mature Müller glia, yet their functional roles remain incompletely defined. Here we employed gain- and loss-of-function approaches, single-cell multiomic profiling, and injury models to investigate Sox8/9 function. Overexpression of SOX8 and/or SOX9 in early-stage retinal progenitor cells suppressed early-born cell fates and promoted photoreceptor generation, consistent with a role in late-stage temporal identity. Conversely, conditional deletion of Sox8 and/or Sox9 in late-stage progenitors did not impair Müller glia specification, but caused radial displacement of Müller glia nuclei into the outer retina and modest changes in glial gene expression. Loss of Sox8/9 in mature Müller glia modestly increased proliferation post-injury without inducing neurogenic competence. These findings suggest that Sox8/9 are dispensable for gliogenesis and repression of neurogenic competence, but are essential for proper laminar positioning and maturation of retinal Müller glia. ### Competing Interest Statement S.B. is a cofounder, shareholder, and scientific advisory board member of CDI Labs LLC, and receives research support from Genentech. National Eye Institute, https://ror.org/03wkg3b53, R01EY036173

The lab's first paper of the new year is out. In it, we investigate the role of the late stage retinal progenitor-enriched SoxE family factors Sox8 and Sox9 in controlling retinal development./1
www.biorxiv.org/content/10.6...

16.01.2026 20:17 👍 27 🔁 6 💬 3 📌 0

G+D together with JHU worked to put together this cool video describing our latest work! Check it out!

07.01.2026 23:55 👍 5 🔁 5 💬 1 📌 0
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Metabolic, epigenetic and transcriptomic alterations in postnatal 16p11.2 deficient murine astrocytes Autism Spectrum Disorders (ASD) are associated with metabolic dysregulation. While astrocytes are integral to cerebral metabolism, their molecular and functional changes in ASD are poorly known. Using...

New preprint from the lab! For those who love astrocytes 🤩. We welcome feedback! #preprint #openaccess #astrocytes #autism

17.12.2025 12:59 👍 27 🔁 9 💬 3 📌 0

Congratulations!!! This was an amazing preprint!

16.12.2025 16:51 👍 0 🔁 0 💬 1 📌 0
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Conservation of cis-regulatory codes over half a billion years of evolution The regulatory codes controlling vertebrate retinal gene expression have been conserved over more than half a billion years.

🧬👁️ Our Science Advances paper is published! snATAC-seq analysis across lamprey to human retina uncovers deeply conserved cis-regulatory codes in all six retinal cell types — even with extensive enhancer turnover. Immensely grateful to my coauthors and collaborators. 🙏 www.science.org/doi/10.1126/...

16.12.2025 14:17 👍 18 🔁 7 💬 4 📌 0

Omg - that’s nuts!!

27.11.2025 22:16 👍 0 🔁 0 💬 0 📌 0

Congratulations! Very exciting!!

20.11.2025 16:47 👍 1 🔁 0 💬 0 📌 0
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Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition Nature Communications - The authors identify pathogenic variants in the SMARCA1 gene as the cause of a variable neurodevelopmental disorder. Mouse studies suggest diverse genetic mechanisms related...

Excited to share our paper with Ghayda Mirzaa describing the novel SMARCA1-related NDD. Out today in Nature Communications.
rdcu.be/ePaDp

10.11.2025 16:14 👍 2 🔁 1 💬 0 📌 0
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Retinal glia regulate development of the circadian photoentrainment circuit Circadian photoentrainment depends on intrinsically photosensitive retinal ganglion cells (ipRGCs), which convey environmental light information to th…

Our latest paper is out! While the circadian photoentrainment circuit has been extensively studied, the mechanisms regulating its development remain poorly understood. Here we show that retinal Müller glia play a key role in this process. Check it out! www.sciencedirect.com/science/arti...

29.10.2025 14:27 👍 42 🔁 14 💬 4 📌 2

Thanks Anna!!

29.10.2025 12:41 👍 0 🔁 0 💬 0 📌 0
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New preprints from the lab (3)! www.biorxiv.org/content/10.1...

10.10.2025 15:01 👍 14 🔁 4 💬 1 📌 0
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Genetic tuning of retinal ganglion cell subtype identity to drive visual behavior Nature Communications - This study reveals that graded expression of the transcription factor BRN3B fine-tunes the identity and function of melanopsin-expressing ipRGC subtypes in the retina....

Our paper is out today! In @tiffmschmidt.bsky.social lab, we identified a single transcription factor, BRN3B, that shapes multiple, key features that define diverse ipRGC subtypes🧬👁️🐭

30.09.2025 21:52 👍 31 🔁 7 💬 7 📌 1

Very cool story!!! Congrats!!!

23.09.2025 22:47 👍 0 🔁 0 💬 1 📌 0

🤩

19.09.2025 20:39 👍 0 🔁 0 💬 0 📌 0

New preprints from the lab!! (2)

17.09.2025 01:49 👍 7 🔁 4 💬 1 📌 0
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Novel Roles of Sonic Hedgehog Signaling in Retinal Patterning and Neurogenesis During Mammalian Eye Development The Sonic Hedgehog (Shh) signaling pathway is essential for the patterning, growth, and morphogenesis of many tissues. During early eye development, Shh is critical for the formation of the two optic ...

🎉 New preprints from the lab! (1) www.biorxiv.org/content/10.1...

17.09.2025 01:43 👍 19 🔁 6 💬 1 📌 0
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Preventing Blindness by Untangling the Genetic Network of Vision Neurons Dr. Joel Miesfeld’s lab studies the mechanisms behind retinal ganglion cells to better understand vision development.

A big thanks to the NEI for supporting my new R01 and MCW for highlighting the research focus. We’ve already made some interesting discoveries and I’m excited to see how the research progresses for years to come. www.mcw.edu/mcwknowledge...

16.09.2025 14:05 👍 25 🔁 7 💬 0 📌 0
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Active DNA demethylation upstream of rod-photoreceptor fate determination is required for retinal development TET enzymes remove DNA methylation markers, but the role of this process in retinal development is not clear. This study shows that these enzymes are required for photoreceptor cells to initiate the g...

Happy to share the definitive version of our last paper about the role of TET enzymes and DNA demethylation in retinal development @clark-lab-retina.bsky.social journals.plos.org/plosbiology/...

04.09.2025 18:09 👍 4 🔁 3 💬 0 📌 0

Our work on the TET enzymes in retinal development is out. We identified that rod fate is inhibited when DNA demethylation is prevented by removal of the TET enzymes. Interestingly, photoreceptor numbers are normal. We utilized WGBS and bACE-seq to profile the precise localization of 5mC and 5hmC,…

06.08.2025 03:19 👍 25 🔁 10 💬 3 📌 0
Left: The active DNA methylation cycle. (i) 5mC is added by DNMTs. (ii) The TET enzymes oxidize 5mC to 5hmC. (iii) 5hmC is converted to 5fC and 5caC by the TET enzymes, followed by conversion back to cytosine by TDG and the base-excision repair pathway. (iv) Alternatively, APOBEC converts 5mC to thymine, causing DNA mismatch. Right: H&E staining of an allelic series of TET conditional P21 mutants.

Left: The active DNA methylation cycle. (i) 5mC is added by DNMTs. (ii) The TET enzymes oxidize 5mC to 5hmC. (iii) 5hmC is converted to 5fC and 5caC by the TET enzymes, followed by conversion back to cytosine by TDG and the base-excision repair pathway. (iv) Alternatively, APOBEC converts 5mC to thymine, causing DNA mismatch. Right: H&E staining of an allelic series of TET conditional P21 mutants.

TET enzymes remove #DNAmethylation markers; @ismaelhdeznunez.bsky.social @clark-lab-retina.bsky.social &co show that these enzymes are required for #photoreceptor cells to initiate the genetic program to become rods instead of cones, & for maturation of the #retina @plosbiology.org 🧪 plos.io/3UaVBfl

05.08.2025 17:10 👍 19 🔁 5 💬 0 📌 1

Woohoo!!!!

04.07.2025 15:17 👍 1 🔁 0 💬 0 📌 0

🔥

13.06.2025 14:07 👍 0 🔁 0 💬 0 📌 0