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

Mutation ∆K281 in MAPT causes Pick's disease.

Acta neuropathologica - 1 Aug 2023

Schweighauser Manuel, Garringer Holly J, Klingstedt Therése, Nilsson K Peter R, Masuda-Suzukake Masami, Murrell Jill R, Risacher Shannon L, Vidal Ruben, Scheres Sjors H W, Goedert Michel, Ghetti Bernardino, Newell Kathy L

Abstract excerpt

Two siblings with deletion mutation ∆K281 in MAPT developed frontotemporal dementia. At autopsy, numerous inclusions of hyperphosphorylated 3R Tau were present in neurons and glial cells of neocortex and some subcortical regions, including hippocampus, caudate/putamen and globus pallidus. The inclusions were argyrophilic with Bodian silver, but not with Gallyas-Braak silver. They were not labelled by an antibody...

Read the complete abstract on PubMed

Topics

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

Share to Chronic Lymphocytic Leukemia Research
Share to Frontotemporal Dementia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Neurons

Share to Pick Disease of the Brain

Share to Silver

Share to tau Proteins

Share to Ubiquitin and proteasome pathways

Source

Open in PubMed Open full text

Identifiers

PMID: 37351604
DOI: 10.1007/s00401-023-02598-6
PMCID: PMC10329087

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

Mutation ∆K281 in MAPT causes Pick's disease.PMID 37351604Read ↗

Familial tauopathy with P364S MAPT mutation: clinical course, neuropathology and ultrastructure of neuronal tau inclusions.Semantic proximity Read ↗

The Pick fold in tau filaments from human MAPT mutants.Semantic proximity Read ↗

MAPT S305I mutation: implications for argyrophilic grain disease.Semantic proximity Read ↗

A Novel Tau Mutation in Exon 12, p.Q336H, Causes Hereditary Pick Disease.Semantic proximity Read ↗

Frontotemporal lobar degeneration with MAPT mutation in an Italian-Polish family. A case report.Semantic proximity Read ↗

Two pathologically confirmed cases of novel mutations in the MAPT gene causing frontotemporal dementia.Semantic proximity Read ↗

The Pick fold in tau filaments from human <i>MAPT</i> mutantsSemantic proximity Read ↗

A Novel MAPT Mutation, G55R, in a Frontotemporal Dementia Patient Leads to Altered Tau FunctionSemantic proximity Read ↗

Unclassifiable tauopathy associated with an A152T variation in MAPT exon 7.Semantic proximity Read ↗

Hereditary Pick's disease with the G272V tau mutation shows predominant three-repeat tau pathology.Semantic proximity Read ↗

de novo MAPT mutation G335A causes severe brain atrophy, 3R and 4R PHF-tau pathology and early onset frontotemporal dementia.Semantic proximity Read ↗

Frontotemporal dementia with Pick‐type histology associated with Q336R mutation in the tau geneSemantic proximity Read ↗

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