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Your search keyword '"Engchuan, Worrawat"' showing total 19 results
Start Over Author "Engchuan, Worrawat" Publisher elsevier b.v.
19 results on '"Engchuan, Worrawat"'

1. Genome-wide enhancer-associated tandem repeats are expanded in cardiomyopathy

Author

Mitina, Aleksandra, Khan, Mahreen, Lesurf, Robert, Yin, Yue, Engchuan, Worrawat, Hamdan, Omar, Pellecchia, Giovanna, Trost, Brett, Backstrom, Ian, Guo, Keyi, Pallotto, Linda M., Lam Doong, Phoenix Hoi, Wang, Zhuozhi, Nalpathamkalam, Thomas, Thiruvahindrapuram, Bhooma, Papaz, Tanya, Pearson, Christopher E., Ragoussis, Jiannis, Subbarao, Padmaja, Azad, Meghan B., Turvey, Stuart E., Mandhane, Piushkumar, Moraes, Theo J., Simons, Elinor, Scherer, Stephen W., Lougheed, Jane, Mondal, Tapas, Smythe, John, Altamirano-Diaz, Luis, Oechslin, Erwin, Mital, Seema, and Yuen, Ryan K.C.

Published
2024
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13. 70. GENE-BASED ANALYSIS OF RARE CNVS ACROSS SIX PSYCHIATRIC DISORDERS IDENTIFIES COMMON BIOLOGICAL COMPONENTS BUT DISTINCTLY DIFFERENT GENETIC EFFECTS IN AUTISM AND SCHIZOPHRENIA

Author

Engchuan, Worrawat, Thiruvahindrapuram, Bhooma, MacDonald, Jeffrey R., Shanta, Omar, Kumar, Kuldeep, Klein, Marieke, Huguet, Guillaume, Wang, Zhuozhi, Pellecchia, Giovanna, Yuen, Ryan KC, Merico, Daniele, Jacquemont, Sebastien, Scherer, Stephen W., and Sebat, Jonathan

Published
2023
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17. Neuron-specific protein network mapping of autism risk genes identifies shared biological mechanisms and disease-relevant pathologies.

Author

Murtaza, Nadeem, Cheng, Annie A., Brown, Chad O., Meka, Durga Praveen, Hong, Shuai, Uy, Jarryll A., El-Hajjar, Joelle, Pipko, Neta, Unda, Brianna K., Schwanke, Birgit, Xing, Sansi, Thiruvahindrapuram, Bhooma, Engchuan, Worrawat, Trost, Brett, Deneault, Eric, Calderon de Anda, Froylan, Doble, Bradley W., Ellis, James, Anagnostou, Evdokia, and Bader, Gary D.

Abstract

There are hundreds of risk genes associated with autism spectrum disorder (ASD), but signaling networks at the protein level remain unexplored. We use neuron-specific proximity-labeling proteomics (BioID2) to identify protein-protein interaction (PPI) networks for 41 ASD risk genes. Neuron-specific PPI networks, including synaptic transmission proteins, are disrupted by de novo missense variants. The PPI network map reveals convergent pathways, including mitochondrial/metabolic processes, Wnt signaling, and MAPK signaling. CRISPR knockout displays an association between mitochondrial activity and ASD risk genes. The PPI network shows an enrichment of 112 additional ASD risk genes and differentially expressed genes from postmortem ASD patients. Clustering of risk genes based on PPI networks identifies gene groups corresponding to clinical behavior score severity. Our data report that cell type-specific PPI networks can identify individual and convergent ASD signaling networks, provide a method to assess patient variants, and highlight biological insight into disease mechanisms and sub-cohorts of ASD. [Display omitted] • BioID of 41 ASD risk genes in primary neurons identifies converging pathways • ASD-associated de novo missense variants perturb PPI networks • Association of non-syndromic ASD risk genes to mitochondrial dysfunction • PPI networks identify ASD sub-types and link ASD biology to clinical outcomes Murtaza et al. use proximity-labeling proteomics for 41 ASD risk genes and identify convergent pathways, including mitochondrial processes. The screen identifies ASD-linked genetic variants disrupt protein interaction networks. Clustering of ASD risk genes based on interactions correlate clinical behavior and ASD biology to protein interaction networks. [ABSTRACT FROM AUTHOR]

Published
2022
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18. FAN1 exo- not endo-nuclease pausing on disease-associated slipped-DNA repeats: A mechanism of repeat instability.

Author

Deshmukh, Amit Laxmikant, Caron, Marie-Christine, Mohiuddin, Mohiuddin, Lanni, Stella, Panigrahi, Gagan B., Khan, Mahreen, Engchuan, Worrawat, Shum, Natalie, Faruqui, Aisha, Wang, Peixiang, Yuen, Ryan K.C., Nakamori, Masayuki, Nakatani, Kazuhiko, Masson, Jean-Yves, and Pearson, Christopher E.

Abstract

Ongoing inchworm-like CAG and CGG repeat expansions in brains, arising by aberrant processing of slipped DNAs, may drive Huntington's disease, fragile X syndrome, and autism. FAN1 nuclease modifies hyper-expansion rates by unknown means. We show that FAN1, through iterative cycles, binds, dimerizes, and cleaves slipped DNAs, yielding striking exo -nuclease pauses along slip-outs: 5′-C↓A↓GC↓A↓G-3′ and 5′-C↓T↓G↓C↓T↓G-3′. CAG excision is slower than CTG and requires intra-strand A·A and T·T mismatches. Fully paired hairpins arrested excision, whereas disease-delaying CAA interruptions further slowed excision. Endo -nucleolytic cleavage is insensitive to slip-outs. Rare FAN1 variants are found in individuals with autism with CGG/CCG expansions, and CGG/CCG slip-outs show exo -nuclease pauses. The slip-out-specific ligand, naphthyridine-azaquinolone, which induces contractions of expanded repeats in vivo , requires FAN1 for its effect, and protects slip-outs from FAN1 exo -, but not endo -, nucleolytic digestion. FAN1's inchworm pausing of slip-out excision rates is well suited to modify inchworm expansion rates, which modify disease onset and progression. [Display omitted] • FAN1 nuclease modifies somatic repeat expansions • FAN1 exo -nuclease digests slipped-DNAs in cycles: binds-cleaves-releases-pauses • FAN1 excision pauses are distinct for disease-delaying interrupted repeats FAN1 modifies Huntington's disease onset by unknown mechanisms. Deshmukh et al. demonstrate that FAN1 nuclease binds, dimerizes, and exo -nucleoytically cleaves disease-associated slipped-DNAs. FAN1's "nibbling" of excess repeats parallels the "inchworm" expansions in patient brains, suggesting a role for FAN1 in regulating repeat instability. [ABSTRACT FROM AUTHOR]

Published
2021
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