ArticleScientific reports2022
Autism-associated mutation in Hevin/Sparcl1 induces endoplasmic reticulum stress through structural instability.
Article in Scientific reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 17 citations in OpenAlex.
- Impact of Genetic Variants Associated with Neurodevelopmental Disorders on the WAVE Regulatory Complex.Journal of chemical information and modeling · 2025Article
- Astrocytic Hevin/SPARCL-1 Regulates Cognitive Decline in Pathological and Normal Brain Aging.Aging cell · 2025Article
- Potential for micronuclear turnover through autophagy secretion pathway.microPublication biology · 2025Article
- Alpha-neurexins in health and disease.Frontiers in molecular neuroscience · 2025Review
- Efficient Escorting Strategy for Aggregation-Prone Notch EGF Repeats with Sparcl1.Molecules (Basel, Switzerland) · 2024Article
- Autism Spectrum Disorder: Brain Areas Involved, Neurobiological Mechanisms, Diagnoses and Therapies.International journal of molecular sciences · 2024Review
- Review: Cancer and neurodevelopmental disorders: multi-scale reasoning and computational guide.Frontiers in cell and developmental biology · 2024Review
- Mutations in Hevin/Sparcl1 and risk of autism spectrum disorder.Neural regeneration research · 2023Article
- Identification of Personality-Related Candidate Genes in Thoroughbred Racehorses Using a Bioinformatics-Based Approach Involving Functionally Annotated Human Genes.Animals : an open access journal from MDPI · 2023Article
- Loss of maturity and homeostatic functions in Tuberous Sclerosis Complex-derived astrocytes.Frontiers in cellular neuroscience · 2023Article
- Serum Secreted Protein Acidic and Rich in Cysteine-Like 1 as a Biochemical Predictor for Prognosticating Clinical Outcomes After Acute Supratentorial Intracerebral Hemorrhage: A Prospective Cohort Study.Neuropsychiatric disease and treatment · 2023Article
- Integrated analysis of endoplasmic reticulum stress regulators' expression identifies distinct subtypes of autism spectrum disorder.Frontiers in psychiatry · 2023Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
Abstract
Hevin is a secreted extracellular matrix protein that is encoded by the SPARCL1 gene. Recent studies have shown that Hevin plays an important role in regulating synaptogenesis and synaptic plasticity. Mutations in the SPARCL1 gene increase the risk of autism spectrum disorder (ASD). However, the molecular basis of how mutations in SPARCL1 increase the risk of ASD is not been fully understood. In this study, we show that one of the SPARCL1 mutations associated with ASD impairs normal Hevin secretion. We identified Hevin mutants lacking the EF-hand motif through analyzing ASD-related mice with vulnerable spliceosome functions. Hevin deletion mutants accumulate in the endoplasmic reticulum (ER), leading to the activation of unfolded protein responses. We also found that a single amino acid substitution of Trp
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.