| Publication | Date | Venue | URL / DOI | Study type | Key ELAVL3/HuC findings | Quantitative data | Supporting citations |
|---|---|---|---|---|---|---|---|
| Mulligan, 2023 | Sep 2023 | *European Journal of Human Genetics* | https://doi.org/10.1038/s41431-023-01456-z | Review; human/mouse/genetics | Authoritative review confirming human **ELAVL3 = HuC**; neuronal ELAVL family member with 3 RRMs + hinge; regulates mRNA stability, translation, alternative splicing, and alternative polyadenylation/3′UTR length; ELAVL3 loss linked to altered glutamate-regulatory transcripts, neuronal excitability, delayed GABAergic differentiation, seizures, and cerebellar ataxia. Also summarizes ALS-linked nuclear depletion/downregulation and proposes biomarker relevance. | Notes ELAVL3-dependent AnkG exon 34 mis-splicing at **2 and 9 months** in knockout mice; cites large human genetics datasets including **>16,000 ASD GWAS individuals**, **2,104 ID trios**, and **42,607 autism cases** in broader ELAVL-family analyses. | (pqac-00000003, pqac-00000004, pqac-00000009, pqac-00000011, pqac-00000027) |
| Dorrity, 2023 | Oct 2023 | *Science Immunology* | https://doi.org/10.1126/sciimmunol.adg2979 | Primary; human stem cell-derived neurons and cell systems | Shows neuron-enriched ELAVL proteins (**ELAVL2/3/4**) promote neuronal **3′UTR lengthening**, increasing dsRNA load and tonic activation of dsRNA sensors (MDA5, PKR, TLR3). HuC is implicated in a neuron-specific post-transcriptional program that couples long 3′UTRs to antiviral immunity and inflammatory risk. Combined HuB/C/D expression caused global 3′UTR lengthening without major bulk transcript-level changes. | Reports that **more than half of human genes** have alternative 3′UTRs; human developmental atlas integrated **393,060 single cells** is cited elsewhere as context for developmental expression; **ADAR1 KO neurons died by day 25** after differentiation in this study. | (pqac-00000013) |
| O’Donovan, 2020 | Jul 2020 | *Brain Communications* | https://doi.org/10.1093/braincomms/fcaa059 | Primary; human serum/CSF, paraneoplastic neurology | Closest highly relevant clinical paper for anti-Hu autoimmunity. Anti-Hu antibodies target the neuronal ELAVL family including **ELAVL3/HuC**, but dominant mapped reactivity centered on a shared nELAVL epitope motif rather than uniquely on ELAVL3. High-resolution PhIP-Seq/mutational scanning identified an immunodominant **RLDxLL** motif and a focused **17-residue** signature near the ELAVL hinge region, supporting diagnostic epitope mapping applications. | Cohorts: **44 anti-Hu** patients and **36 anti-Yo** patients; **38%** of anti-Hu patients enriched nELAVL peptides; **76 total anti-Hu samples** (32 paired serum/CSF, 2 CSF, 10 serum); **19 samples** with significant nELAVL enrichment; **20 unique nELAVL peptides**; **>80%** of enriched peptides mapped to ELAVL4; **0/50** healthy control sera showed significant nELAVL enrichment; **34/36 (94%)** peptides in motif reanalysis shared **RLDxxLL**. | (pqac-00000016, pqac-00000017, pqac-00000018, pqac-00000019, pqac-00000020, pqac-00000021, pqac-00000022, pqac-00000023) |
| Kim, 2024 | Oct 2024 | *Experimental & Molecular Medicine* | https://doi.org/10.1038/s12276-024-01328-6 | Primary; human single-cell atlas / developmental expression | Integrative single-cell atlas of developing human brain includes **ELAVL3** among disorder-related genes with temporally patterned neuronal expression, supporting its role as a neuronal lineage/development marker and neurodevelopmental risk-associated gene. | Atlas integrates **393,060 single cells** across developmental stages. | (pqac-00000013) |
| Costantino, 2024 | 2024 | Dissertation / neuropathology study | DOI not clearly resolved in evidence excerpt | Primary; human postmortem ALS/FTLD tissue | Focused 2024 human neuropathology study of **ELAVL3 disruption** in ALS/FTLD. Reports cryptic mis-splicing of ELAVL3 transcripts, nuclear depletion of ELAVL3 protein, cytoplasmic granular pathology, and ELAVL3-positive threadlike processes. Reduced nuclear ELAVL3 associates with pTDP-43 or tau pathology, suggesting shared RNA-binding protein dysfunction across neurodegenerative proteinopathies. | In prior anterior horn motor neurons, **nearly 75%** showed total loss of nuclear ELAVL3; in FTLD-Tau, **4/5** cases showed related ELAVL3 nuclear loss in cells with phosphorylated aggregates. | (pqac-00000024, pqac-00000025, pqac-00000026) |
| Moakley, 2024 | Jun 2024 | *bioRxiv* | https://doi.org/10.1101/2024.06.13.597128 | Primary preprint; mouse single-cell/splicing network | Reverse-engineering study of neuron type-specific splicing networks identifies **Elavl3/HuC** as broadly expressed among neuronal classes and part of splicing-regulatory programs shaping neuronal identity. Useful for pathway context, though not an ELAVL3-focused mechanistic paper. | Derived networks from **133 mouse neocortical cell types** defined by single-cell transcriptomes and inferred regulons for **350 RBPs**. | (pqac-00000000) |
| Lee, 2023 | Oct 2023 | *Life Science Alliance* | https://doi.org/10.26508/lsa.202302000 | Review; neuronal RNA processing | Broad review of neuronal alternative splicing and polyadenylation that provides pathway context for nELAVL proteins, including ELAVL3, as regulators of neural-specific isoform processing and 3′UTR biology. | No ELAVL3-specific quantitative value extracted from available excerpt. | (pqac-00000000) |
| Lee, 2024 | Jun 2024 | *Experimental & Molecular Medicine* | https://doi.org/10.1038/s12276-024-01177-3 | Review; human transcriptome / RNA regulation | Review of inverted Alu repeats notes neuron-enriched **ELAVL2/3/4** in the context of RNA structure and post-transcriptional control, relevant to ELAVL3’s role in neuronal transcriptome regulation and dsRNA-linked processes. | No ELAVL3-specific quantitative value extracted from available excerpt. | (pqac-00000000) |


*Table: This table compiles the main 2023-2024 and closest relevant studies in the evidence set that mention ELAVL3/HuC, emphasizing function, disease relevance, and quantitative findings. It is useful as a quick reference for prioritizing the strongest sources for functional annotation and clinical context.*