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

Quantification of various APP-mRNA isoforms and epistasis in Lesch-Nyhan disease.

Neuroscience letters - 16 Mar 2017

Nguyen Khue Vu, Nyhan William L

Abstract excerpt

The present work is the development of a simple and specific kinetic method based on RT-PCR technique coupled with direct sequencing for quantification of various amyloid precursor protein-mRNA isoforms (APP-mRNA isoforms) in biological samples, especially for identifying the most abundant one that may decisive for the normal status or disease risk. Application of this kinetic method to the Lesch-Nyhan disease...

Topics

Alzheimer Disease
Amyloid beta-Protein Precursor
Epistasis, Genetic
Genetic Predisposition to Disease
Humans
Hypoxanthine Phosphoribosyltransferase
Lesch-Nyhan Syndrome
Mutation
Neurodegenerative Diseases
Protein Isoforms
RNA Isoforms

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 28192196
DOI: 10.1016/j.neulet.2017.02.016

Genes

APP
HPRT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Quantification of various APP-mRNA isoforms and epistasis in Lesch-Nyhan disease.PMID 28192196Read ↗

Epigenetic regulation in amyloid precursor protein and the Lesch-Nyhan syndrome.Semantic proximity Read ↗

The human β-amyloid precursor protein: biomolecular and epigenetic aspectsSemantic proximity Read ↗

Lesch-Nyhan disease: I. Construction of expression vectors for hypoxanthine-guanine phosphoribosyltransferase (HGprt) enzyme and amyloid precursor protein (APP).Semantic proximity Read ↗

Levels and Alternative Splicing of Amyloid β Protein Precursor (APP) Transcripts in Brains of APP Transgenic Mice and Humans with Alzheimer's DiseaseSemantic proximity Read ↗

Presence of a “CAGA box” in the APP gene unique to amyloid plaque‐forming species and absent in all APLP ‐1/2 genes: implications in Alzheimer's diseaseSemantic proximity Read ↗

Relationship between single nucleotide polymorphisms in the 3′UTR of amyloid precursor protein and risk of Alzheimer’s disease and its mechanismSemantic proximity Read ↗

Increasing amyloid peptide precursor production and its impact on Alzheimer's disease.Semantic proximity Read ↗

Regulation and Expression of the Alzheimer's β/A4 Amyloid Protein Precursor in Health, Disease, and Down's SyndromeaSemantic proximity Read ↗

APP Knock-In Mice Produce E22P-Aβ Exhibiting an Alzheimer's Disease-like Phenotype with Dysregulation of Hypoxia-Inducible Factor Expression.Semantic proximity Read ↗

Therapeutic potential of APP antisense oligonucleotides for Alzheimer’s disease and down syndrome-related Alzheimer’s diseaseSemantic proximity Read ↗

Germline mutations directions are different between introns of the same gene: case study of the gene coding for amyloid-beta precursor proteinSemantic proximity Read ↗

Human HPRT1 gene and the Lesch-Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein.Semantic proximity Read ↗

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