Neuronal transcription of autism gene PTCHD1 is regulated by a conserved downstream enhancer sequence
Abstract Patched domain-containing 1 (PTCHD1) is a well-established susceptibility gene for autism spectrum disorder (ASD) and intellectual disability (ID). Previous studies have suggested that alterations in the dosage of PTCHD1 may contribute to the etiology of both ASD and ID. However, there has...
| Published in: | Scientific Reports |
|---|---|
| Main Authors: | Stephen F. Pastore, Tahir Muhammad, Cassandra Stan, Paul W. Frankland, Paul A. Hamel, John B. Vincent |
| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2023-11-01
|
| Online Access: | https://doi.org/10.1038/s41598-023-46673-0 |
Similar Items
Nonsynonymous Mutations in Intellectual Disability and Autism Spectrum Disorder Gene PTCHD1 Disrupt <i>N</i>-Glycosylation and Reduce Protein Stability
by: Connie T. Y. Xie, et al.
Published: (2024-01-01)
by: Connie T. Y. Xie, et al.
Published: (2024-01-01)
Autism-Associated PTCHD1 Missense Variants Bind to the SNARE-Associated Protein SNAPIN but Exhibit Impaired Subcellular Trafficking
by: Stephen F. Pastore, et al.
Published: (2025-07-01)
by: Stephen F. Pastore, et al.
Published: (2025-07-01)
Understanding autism: structural and functional characterization of PTCHD1
by: Adrian Goldman, et al.
Published: (2025-10-01)
by: Adrian Goldman, et al.
Published: (2025-10-01)
PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports
by: Federica Alice Maria Montanaro, et al.
Published: (2024-01-01)
by: Federica Alice Maria Montanaro, et al.
Published: (2024-01-01)
Corrigendum: PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports
by: Federica Alice Maria Montanaro, et al.
Published: (2024-02-01)
by: Federica Alice Maria Montanaro, et al.
Published: (2024-02-01)
Caenorhabditis elegans PTR/PTCHD PTR-18 promotes the clearance of extracellular hedgehog-related protein via endocytosis.
by: Hirohisa Chiyoda, et al.
Published: (2021-04-01)
by: Hirohisa Chiyoda, et al.
Published: (2021-04-01)
CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural induction
by: Kathryn O. Farley, et al.
Published: (2024-01-01)
by: Kathryn O. Farley, et al.
Published: (2024-01-01)
Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.
by: Maria H Chahrour, et al.
Published: (2012-01-01)
by: Maria H Chahrour, et al.
Published: (2012-01-01)
Reversing autism by targeting downstream mTOR signaling
by: Hansen eWang, et al.
Published: (2013-03-01)
by: Hansen eWang, et al.
Published: (2013-03-01)
Brain-specific transcriptional regulator T-brain-1 controls brain wiring and neuronal activity in autism spectrum disorders
by: Tzyy-Nan eHuang, et al.
Published: (2015-11-01)
by: Tzyy-Nan eHuang, et al.
Published: (2015-11-01)
Regulation of CD19 CAR-T cell activation based on an engineered downstream transcription factor
by: Duško Lainšček, et al.
Published: (2023-06-01)
by: Duško Lainšček, et al.
Published: (2023-06-01)
Brainstem BDNF neurons are downstream of GFRAL/GLP1R signalling
by: Claire H. Feetham, et al.
Published: (2024-12-01)
by: Claire H. Feetham, et al.
Published: (2024-12-01)
Post-transcriptional regulation of the transcriptional apparatus in neuronal development
by: Mohammad Nazim
Published: (2024-12-01)
by: Mohammad Nazim
Published: (2024-12-01)
Downstream transcription promotes human recurrent CNV associated AT-rich sequence mediated genome rearrangements in yeast
by: Feng-Yun Xie, et al.
Published: (2024-12-01)
by: Feng-Yun Xie, et al.
Published: (2024-12-01)
Regulation of pollen lipid body biogenesis by MAP kinases and downstream WRKY transcription factors in Arabidopsis.
by: Yueping Zheng, et al.
Published: (2018-12-01)
by: Yueping Zheng, et al.
Published: (2018-12-01)
Long-read RNA-sequencing reveals transcript-specific regulation in human-derived cortical neurons
by: Jishu Xu, et al.
Published: (2025-07-01)
by: Jishu Xu, et al.
Published: (2025-07-01)
On Regulating Downstream AI Developers
by: Sophie Williams, et al.
by: Sophie Williams, et al.
Role for HIF-1α and Downstream Pathways in Regulating Neuronal Injury after Intracerebral Hemorrhage in Diabetes
by: Zhen Yu, et al.
Published: (2015-08-01)
by: Zhen Yu, et al.
Published: (2015-08-01)
FMRP has a cell-type-specific role in CA1 pyramidal neurons to regulate autism-related transcripts and circadian memory
by: Kirsty Sawicka, et al.
Published: (2019-12-01)
by: Kirsty Sawicka, et al.
Published: (2019-12-01)
Regulation of Il6 expression by single CpG methylation in downstream of Il6 transcription initiation site
by: Benedict Shi Xiang Lian, et al.
Published: (2022-04-01)
by: Benedict Shi Xiang Lian, et al.
Published: (2022-04-01)
Transcriptional Regulation of Neuronal Genes and Its Effect on Neural Functions: Expression and Function of Forkhead Transcription Factors in Neurons
by: Kohji Fukunaga, et al.
Published: (2005-01-01)
by: Kohji Fukunaga, et al.
Published: (2005-01-01)
A conserved transcriptional fingerprint of multi-neurotransmitter neurons necessary for social behavior
by: Denver Ncube, et al.
Published: (2022-09-01)
by: Denver Ncube, et al.
Published: (2022-09-01)
Role of microRNAs and their downstream target transcription factors in zebrafish thrombopoiesis
by: Ayah Al Qaryoute, et al.
Published: (2023-09-01)
by: Ayah Al Qaryoute, et al.
Published: (2023-09-01)
Transcriptional regulation in the development and dysfunction of neocortical projection neurons
by: Ningxin Wang, et al.
Published: (2024-01-01)
by: Ningxin Wang, et al.
Published: (2024-01-01)
Transcription factors regulating the specification of brainstem respiratory neurons
by: Yiling Xia, et al.
Published: (2022-11-01)
by: Yiling Xia, et al.
Published: (2022-11-01)
Erg6 Acts as a Downstream Effector of the Transcription Factor Flo8 To Regulate Biofilm Formation in Candida albicans
by: Xueyang Jin, et al.
Published: (2023-06-01)
by: Xueyang Jin, et al.
Published: (2023-06-01)
Reverse flow downstream multi-vent regulators
by: Mohamed F. Sauida
Published: (2013-06-01)
by: Mohamed F. Sauida
Published: (2013-06-01)
Regulation of cGAS Activity and Downstream Signaling
by: Bhagwati Joshi, et al.
Published: (2022-09-01)
by: Bhagwati Joshi, et al.
Published: (2022-09-01)
Deletion of the autism-related gene Chd8 alters activity-dependent transcriptional responses in mouse postmitotic neurons
by: Atsuki Kawamura, et al.
Published: (2023-06-01)
by: Atsuki Kawamura, et al.
Published: (2023-06-01)
Concerted transcriptional regulation of the morphogenesis of hypothalamic neurons by ONECUT3
by: Maja Zupančič, et al.
Published: (2024-10-01)
by: Maja Zupančič, et al.
Published: (2024-10-01)
Natural antisense transcripts regulate the neuronal stress response and excitability
by: Xingguo Zheng, et al.
Published: (2014-03-01)
by: Xingguo Zheng, et al.
Published: (2014-03-01)
CUT homeobox genes: transcriptional regulation of neuronal specification and beyond
by: Eduardo Leyva-Díaz
Published: (2023-09-01)
by: Eduardo Leyva-Díaz
Published: (2023-09-01)
Deletion of conserved non‐coding sequences downstream from NKX2‐1: A novel disease‐causing mechanism for benign hereditary chorea
by: Jun Liao, et al.
Published: (2021-04-01)
by: Jun Liao, et al.
Published: (2021-04-01)
The regulation of enteric neuron connectivity by semaphorin 5A is affected by the autism-associated S956G missense mutation
by: Morgane E. Le Dréan, et al.
Published: (2024-05-01)
by: Morgane E. Le Dréan, et al.
Published: (2024-05-01)
Sinusoidal stimulation on afferent fibers modulates the firing pattern of downstream neurons in rat hippocampus
by: Zhao-Xiang Wang, Zhou-Yan Feng, Lv-Piao Zheng, Yue Yuan
Published: (2020-09-01)
by: Zhao-Xiang Wang, Zhou-Yan Feng, Lv-Piao Zheng, Yue Yuan
Published: (2020-09-01)
Neuronal extracellular vesicles and associated microRNAs induce circuit connectivity downstream BDNF
by: Anna Antoniou, et al.
Published: (2023-02-01)
by: Anna Antoniou, et al.
Published: (2023-02-01)
The Downstream Regulation of Chemokine Receptor Signalling: Implications for Atherosclerosis
by: Jyoti Patel, et al.
Published: (2013-01-01)
by: Jyoti Patel, et al.
Published: (2013-01-01)
Friend or Foe: Regulation, Downstream Effectors of RRAD in Cancer
by: Zhangyue Sun, et al.
Published: (2023-03-01)
by: Zhangyue Sun, et al.
Published: (2023-03-01)
Roles of AMPK and Its Downstream Signals in Pain Regulation
by: Shenglan Wang, et al.
Published: (2021-08-01)
by: Shenglan Wang, et al.
Published: (2021-08-01)
Estimating of Scour in Downstream of the Water Level Regulation Structures
by: Saeed Farzin, et al.
Published: (2015-08-01)
by: Saeed Farzin, et al.
Published: (2015-08-01)
Similar Items
-
Nonsynonymous Mutations in Intellectual Disability and Autism Spectrum Disorder Gene PTCHD1 Disrupt <i>N</i>-Glycosylation and Reduce Protein Stability
by: Connie T. Y. Xie, et al.
Published: (2024-01-01) -
Autism-Associated PTCHD1 Missense Variants Bind to the SNARE-Associated Protein SNAPIN but Exhibit Impaired Subcellular Trafficking
by: Stephen F. Pastore, et al.
Published: (2025-07-01) -
Understanding autism: structural and functional characterization of PTCHD1
by: Adrian Goldman, et al.
Published: (2025-10-01) -
PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports
by: Federica Alice Maria Montanaro, et al.
Published: (2024-01-01) -
Corrigendum: PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports
by: Federica Alice Maria Montanaro, et al.
Published: (2024-02-01)
