ArticleFrontiers in endocrinology2013
The regulated secretory pathway and human disease: insights from gene variants and single nucleotide polymorphisms.
Article in Frontiers in endocrinology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 22 citations in OpenAlex.
- From EM to AI: Multiscale imaging of the secretory pathway with insights from plant cells.Journal of microscopy · 2026Review
- Predictive Analysis of Brain-Derived Neurotrophic Factor and Apolipoprotein E SNPs in Alzheimer's Pathogenesis.BioMed research international · 2026Article
- Molecular requirements for mammalian crinophagy highlight a key role for CaResearch square · 2025Article
- Defective Human SRP Induces Protein Quality Control and Triggers Stress Response.Journal of molecular biology · 2022Article
- Cathepsin B Gene Knockout Improves Behavioral Deficits and Reduces Pathology in Models of Neurologic Disorders.Pharmacological reviews · 2022Review
- Coding variants identified in patients with diabetes alter PICK1 BAR domain function in insulin granule biogenesis.The Journal of clinical investigation · 2022Article
- Systematic Comparison of Vesicular Targeting Signals Leads to the Development of Genetically Encoded Vesicular Fluorescent ZnACS sensors · 2020Article
- Translational Control of Secretory Proteins in Health and Disease.International journal of molecular sciences · 2020Review
- Silencing of Aberrant Secretory Protein Expression by Disease-Associated Mutations.Journal of molecular biology · 2019Article
- Defining a mechanistic link between pigment epithelium-derived factor, docosahexaenoic acid, and corneal nerve regeneration.The Journal of biological chemistry · 2017Article
- Mechanisms and regulation of neurotrophin synthesis and secretion.Neurosciences (Riyadh, Saudi Arabia) · 2016Review
- 60 YEARS OF POMC: Biosynthesis, trafficking, and secretion of pro-opiomelanocortin-derived peptides.Journal of molecular endocrinology · 2016Review
- Hippocampal Pruning as a New Theory of Schizophrenia Etiopathogenesis.Molecular neurobiology · 2016Article
- Article
- Genetic targeting of a small fluorescent zinc indicator to cell surface for monitoring zinc secretion.ACS chemical biology · 2015Article
- Redirecting intracellular trafficking and the secretion pattern of FSH dramatically enhances ovarian function in mice.Proceedings of the National Academy of Sciences of the United States of America · 2014Article
- The regulated secretory pathway in neuroendocrine cells.Frontiers in endocrinology · 2014Article
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
The regulated secretory pathway provides critical control of peptide, growth factor, and hormone release from neuroendocrine and endocrine cells, and neurons, maintaining physiological homeostasis. Propeptides and prohormones are packaged into dense core granules (DCGs), where they frequently undergo tissue-specific processing as the DCG matures. Proteins of the granin family are DCG components, and although their function is not fully understood, data suggest they are involved in DCG formation and regulated protein/peptide secretion, in addition to their role as precursors of bioactive peptides. Association of gene variation, including single nucleotide polymorphisms (SNPs), with neuropsychiatric, endocrine, and metabolic diseases, has implicated specific secreted proteins and peptides in disease pathogenesis. For example, a SNP at position 196 (G/A) of the human brain-derived neurotrophic factor gene dysregulates protein processing and secretion and leads to cognitive impairment. This suggests more generally that variants identified in genes encoding secreted growth factors, peptides, hormones, and proteins involved in DCG biogenesis, protein processing, and the secretory apparatus, could provide insight into the process of regulated secretion as well as disorders that result when it is impaired.
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Registered trials
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 OpenQuestion graph.