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Huda Zoghbi

As seen in: Nature, PNAS, Science Magazine, Cell Press, Cell Reports, The Lancet, The Scientist, Annual Reviews Journal, Spectrum
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Articles

Single-nucleus profiling reveals a core disease signature and cell type–specific vulnerabilities in early Rett syndrome

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By Mengchun Wu, Adithya Sarma, Julia Bos, Ashley Anderson, Guantong Qi, Sih-Rong Wu, Jean-Pierre Revelli, Hu Chen, Zhandong Liu, Huda Zoghbi
| Science Magazine Verified
Abstract INTRODUCTION RESULTS DISCUSSION MATERIALS AND METHODS Acknowledgments Supplementary Materials REFERENCES Information & Authors Metrics & Citations View Options References Figures Tables Media Share Abstract Rett syndrome (RTT) is an X-linked neurological disorder caused by MECP2 mutations, creating distinct cellular environments in females (mosaic) versus males (nonmosaic).
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Publisher Correction: Presymptomatic training mitigates functional deficits in a mouse model of Rett syndrome

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By Nathan P. Achilly, Wei Qing Wang, Huda Zoghbi
| Nature Verified
Correction to: Nature https://doi.org/10.1038/s41586-021-03369-7 Published online 24 March 2021 In the version of this article initially published, in Fig. 4d, data points were inadvertently omitted from the far-right Rett early training (MeCP2–) bar in the process of figure formatting by the journal. Separately, in Extended Data Fig. 6a, the image shown in the lower-left Rett mCherry panel mistakenly presented an image from Rett-hM3Dq Cortex.
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Haploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson’s disease

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By Thomas P. Spargo, Chloe F Sands, Isabella R Juan, Jonathan Mitchell, Vida Ravanmehr, Jessica Butts, Ruth B. De-Paula, Youngdoo Kim, Fengyuan Hu, Quanli Wang, Dimitrios M. Vitsios, Manik Garg, Lawrence Middleton, Michal Tyrlik, Mirko Messa, Guillermo del Angel, Daniel G. Calame, Laurie A. Robak, Ben Hollis, Huda Zoghbi, Joshua M. Shulman, Slavé Petrovski, Ismael Al-Ramahi, Ioanna Tachmazidou, Ryan S. Dhindsa, Hiba Saade, Vishnu A. Cuddapah
| Cell Reports Verified
Sample-level quality control To perform genetic association tests, we defined cohorts of people with PD (cases) and people without any neurological disorder (controls) from four datasets (Table S1).19,48,50,53,54 Samples retained for analysis were determined by per-dataset quality control (QC) protocols described below.
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