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

Reduced gene dosage is a common mechanism of neuropathologies caused by ATP6AP2 splicing mutations.

Parkinsonism & related disorders - 1 Aug 2022

Edelman William C, Kiianitsa Kostantin, Virmani Tuhin, Martinez Refugio A, Young Jessica E, Keene C Dirk, Bird Thomas D, Raskind Wendy H, Korvatska Olena

Abstract excerpt

BACKGROUND: Mutations that alter splicing of X-linked ATP6AP2 cause a spectrum of neurodevelopmental and neurodegenerative pathologies including parkinsonism in affected males. All previously reported splicing mutations increase the level of a minor isoform with skipped exon 4 (Δe4) that encodes a functionally deficient protein. OBJECTIVES: We investigated the pathogenic mechanism of a novel c.168+6T>A variant...

Read the complete abstract on PubMed

Topics

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

Share to Exons
Share to Gene Dosage

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Parkinsonian Disorders

Share to Protein Isoforms

Share to Receptors, Cell Surface

Share to RNA Splice Sites

Share to Vacuolar Proton-Translocating ATPases

Source

Open in PubMed Open full text

Identifiers

PMID: 35779466
DOI: 10.1016/j.parkreldis.2022.06.015
PMCID: PMC10012809

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Reduced gene dosage is a common mechanism of neuropathologies caused by ATP6AP2 splicing mutations.PMID 35779466Read ↗

Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS).Semantic proximity Read ↗

Utilizing RNA and outlier analysis to identify an intronic splice-altering variant in AP4S1 in a sibling pair with progressive spastic paraplegia.Semantic proximity Read ↗

Poison exon splicing in the human brain: a new paradigm for understanding and targeting neurological disordersSemantic proximity Read ↗

Targeted Long-Read sequencing provides functional validation of variants predicted to alter splicingSemantic proximity Read ↗

Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing.Semantic proximity Read ↗

Compound heterozygosity of EXOSC2 ‘missense’ variants causes a bi-allelic decrease in protein expression through novel unexpected pathomechanismsSemantic proximity Read ↗

Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype.Semantic proximity Read ↗

Case Report: Deep intronic PHEX variant causing aberrant splicing identified by whole genome and targeted RNA sequencing in X-linked hypophosphatemia.Semantic proximity Read ↗

Dominant truncating variants in KAT6A cause two neurodevelopmental disorders with opposite gene regulatory and metabolic changes.Semantic proximity Read ↗

A WFS1 variant disrupting acceptor splice site uncovers the impact of alternative splicing on beta cell apoptosis in a patient with Wolfram syndrome.Semantic proximity Read ↗

A <i>WFS1</i> variant disrupting acceptor splice site uncovers the impact of alternative splicing on β cell apoptosis in a patient with Wolfram syndromeSemantic proximity Read ↗

Blood expression profiles of fragile X premutation carriers identify candidate genes involved in neurodegenerative and infertility phenotypes.Semantic proximity Read ↗

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