Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Construction of pathogenic Sec16a mutation mouse model using CRISPR/Cas9.

Animal models and experimental medicine - 1 Mar 2026

Hu Yaqiang, Zeng Zhiyang, Ming Xinyu, Yin Shuming, Guan Yuting, Gao Liangcai, Li Dali

Abstract excerpt

BACKGROUND: SEC16A is a pivotal protein that facilitates the transport of proteins from the endoplasmic reticulum to the Golgi apparatus. Utilizing the protein structure function database, a potentially pathogenic mutation site (NM_014866.1: c.4606C>G(p.L1536V)) was pinpointed within the conserved central core region of the human SEC16A protein, a component integral to the COPII complex assembly. METHODS:...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to CRISPR-Cas Systems
Share to Disease Models, Animal

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Mice, Inbred C57BL

Share to Mutation

Share to Vesicular Transport Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 41104514
DOI: 10.1002/ame2.70082
PMCID: PMC13176096

Genes

SEC16A

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Construction of pathogenic Sec16a mutation mouse model using CRISPR/Cas9.PMID 41104514Read ↗

SEC16A Variants Predispose to Chronic Pancreatitis by Impairing ER-to-Golgi Transport and Inducing ER Stress.Semantic proximity Read ↗

SEC31A mutation affects ER homeostasis, causing a neurological syndromeSemantic proximity Read ↗

Homozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystonia.Semantic proximity Read ↗

MOG1 restores the expression and function of SCN5A-p.R104W through sec23a-mediated forward traffickingSemantic proximity Read ↗

CRISPR-Cas9-Generated TXNDC15 c.560delA Homozygous Mouse Model Exhibits Meckel-Gruber Syndrome Phenotype.Semantic proximity Read ↗

Sec16A is critical for both conventional and unconventional secretion of CFTR.Semantic proximity Read ↗

Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking.Semantic proximity Read ↗

Bi‐allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis‐like diseaseSemantic proximity Read ↗

Hypomyelinated vps16 Mutant Zebrafish Exhibit Systemic and Neurodevelopmental Pathologies.Semantic proximity Read ↗

Mutations in Drosophila sec15 reveal a function in neuronal targeting for a subset of exocyst components.Semantic proximity Read ↗

SEC24A deficiency lowers plasma cholesterol through reduced PCSK9 secretion.Semantic proximity Read ↗

Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.