ArticleScientific reports2017
Zinc deficiency and low enterocyte zinc transporter expression in human patients with autism related mutations in SHANK3.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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Who cites it
35 citing papers in PubMed, 69 citations in OpenAlex.
- Digestive Neurobiology in Autism: From Enteric and Central Nervous System Interactions to Shared Genetic Pathways.International journal of molecular sciences · 2025Review
- Review
- Article
- Metataxonomic and Immunological Analysis of Feces from Children with or without Phelan-McDermid Syndrome.Microorganisms · 2024Article
- Autism spectrum disorders and the gastrointestinal tract: insights into mechanisms and clinical relevance.Nature reviews. Gastroenterology & hepatology · 2024Review
- nArgBP2 together with GKAP and SHANK3 forms a dynamic layered structure.Frontiers in cellular neuroscience · 2024Article
- Gastrointestinal Dysfunction in Genetically Defined Neurodevelopmental Disorders.Seminars in neurology · 2023Review
- Plasma zinc, copper and serum ceruloplasmin levels of autism spectrum disorder children in Bangladesh.Heliyon · 2023Article
- Updated consensus guidelines on the management of Phelan-McDermid syndrome.American journal of medical genetics. Part A · 2023Review
- Sex bias in social deficits, neural circuits and nutrient demand in Cttnbp2 autism models.Brain : a journal of neurology · 2023Article
- Oxytocin protective effects on zebrafish larvae models of autism-like spectrum disorder.Iranian journal of basic medical sciences · 2023Article
- The emerging roles of Shank3 in cardiac function and dysfunction.Frontiers in cell and developmental biology · 2023Review
- Review
- Prenatal Zinc Deficient Mice as a Model for Autism Spectrum Disorders.International journal of molecular sciences · 2022Review
- Placental methylome reveals a 22q13.33 brain regulatory gene locus associated with autism.Genome biology · 2022Article
- SHANK3 Antibody Validation: Differential Performance in Western Blotting, Immunocyto- and Immunohistochemistry.Frontiers in synaptic neuroscience · 2022Article
- Zinc is a key regulator of gastrointestinal development, microbiota composition and inflammation with relevance for autism spectrum disorders.Cellular and molecular life sciences : CMLS · 2021Article
- Neuroinflammation: A Signature or a Cause of Epilepsy?International journal of molecular sciences · 2021Review
- Expression Analysis of Zinc Transporters in Nervous Tissue Cells Reveals Neuronal and Synaptic Localization of ZIP4.International journal of molecular sciences · 2021Article
- Network Effects of the 15q13.3 Microdeletion on the Transcriptome and Epigenome in Human-Induced Neurons.Biological psychiatry · 2021Article
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Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Phelan McDermid Syndrome (PMDS) is a genetic disorder characterized by features of Autism spectrum disorders. Similar to reports of Zn deficiency in autistic children, we have previously reported high incidence of Zn deficiency in PMDS. However, the underlying mechanisms are currently not well understood. Here, using inductively coupled plasma mass-spectrometry to measure the concentration of Zinc (Zn) and Copper (Cu) in hair samples from individuals with PMDS with 22q13.3 deletion including SHANK3 (SH3 and multiple ankyrin repeat domains 3), we report a high rate of abnormally low Zn/Cu ratios. To investigate possible underlying mechanisms, we generated enterocytes from PMDS patient-derived induced pluripotent stem cells and used Caco-2 cells with knockdown of SHANK3. We detected decreased expression of Zn uptake transporters ZIP2 and ZIP4 on mRNA and protein level correlating with SHANK3 expression levels, and found reduced levels of ZIP4 protein co-localizing with SHANK3 at the plasma membrane. We demonstrated that especially ZIP4 exists in a complex with SHANK3. Furthermore, we performed immunohistochemistry on gut sections from Shank3αβ knockout mice and confirmed a link between enterocytic SHANK3, ZIP2 and ZIP4. We conclude that apart from its well-known role in the CNS, SHANK3 might play a specific role in the GI tract.
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