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

Proteomic analysis of X-linked dystonia parkinsonism disease striatal neurons reveals altered RNA metabolism and splicing

30 Nov 2023

Abstract excerpt

X-linked dystonia-parkinsonism (XDP) is a rare neurodegenerative disease endemic to the Philippines. The genetic cause for XDP is an insertion of a SINE-VNTR-Alu (SVA)-type retrotransposon within intron 32 of TATA-binding protein associated factor 1 (TAF1) that causes an alteration of TAF1 splicing, partial intron retention, and decreased transcription. Although TAF1 is expressed in all organs, medium spiny...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Neurodegenerative Diseases
Share to Neurological diseases and metabolism
Share to Neurological disorders and treatments

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 38042508
DOI: 10.1016/j.nbd.2023.106367

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Proteomic analysis of X-linked dystonia parkinsonism disease striatal neurons reveals altered RNA metabolism and splicingPMID 38042508Read ↗

Myelin pathology is a key feature of X-linked Dystonia ParkinsonismSemantic proximity Read ↗

Decreased N-TAF1 expression in X-linked dystonia-parkinsonism patient-specific neural stem cells.Semantic proximity Read ↗

SAK3 confers neuroprotection in the neurodegeneration model of X-linked Dystonia-ParkinsonismSemantic proximity Read ↗

Mitochondrial toxins cause widespread downregulation of pathways in X-linked dystonia-parkinsonism patient-derived neurons.Semantic proximity Read ↗

Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome AssemblySemantic proximity Read ↗

Proteomic Analysis of Huntington’s Disease Medium Spiny Neurons Identifies Alterations in Lipid DropletsSemantic proximity Read ↗

Single-cell transcriptomics of human iPSC differentiation dynamics reveal a core molecular network of Parkinson's disease.Semantic proximity Read ↗

Tau isoform imbalance and aggregation are pathological hallmarks of X-linked dystonia-parkinsonismSemantic proximity Read ↗

A review of genome‐wide transcriptomics studies in Parkinson's diseaseSemantic proximity Read ↗

Single cell transcriptomics of human PINK1 iPSC differentiation dynamics reveal a core network of Parkinson’s diseaseSemantic proximity Read ↗

Therapeutic targeting of alternative splicing caused by a lethal noncoding structural variant in X-linked dystonia parkinsonismSemantic proximity Read ↗

Variation in TAF1 expression in female carrier induced pluripotent stem cells and human brain ontogeny has implications for adult neostriatum vulnerability in X-linked Dystonia ParkinsonismSemantic proximity Read ↗

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