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

New mutations in MAPT gene causing frontotemporal lobar degeneration: biochemical and structural characterization.

Neurobiology of aging - 1 Apr 2012

Rossi Giacomina, Bastone Antonio, Piccoli Elena, Mazzoleni Giulia, Morbin Michela, Uggetti Andrea, Giaccone Giorgio, Sperber Sarah, Beeg Marten, Salmona Mario, Tagliavini Fabrizio

Abstract excerpt

Frontotemporal lobar degeneration (FTLD) can be sporadic or familial. The genes encoding the microtubule-associated protein tau (MAPT) and progranulin (GRN) are the most relevant genes so far known causing the hereditary forms. Following genetic screening of patients affected by FTLD, we identified 2 new MAPT mutations, P364S and G366R, the former in a sporadic case. In the study we report the clinical and...

Read the complete abstract on PubMed

Topics

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

Share to Exons
Share to Family Health

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Frontotemporal Lobar Degeneration

Share to Magnetic Resonance Imaging

Share to Microtubules

Share to Protein Isoforms

Share to tau Proteins

Source

Identifiers

PMID: 21943955
DOI: 10.1016/j.neurobiolaging.2011.08.008

Genes

MAPT
GRN

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

New mutations in MAPT gene causing frontotemporal lobar degeneration: biochemical and structural characterization.PMID 21943955Read ↗

Different mutations at V363 MAPT codon are associated with atypical clinical phenotypes and show unusual structural and functional features.Semantic proximity Read ↗

Clinical, neuropathological, and biochemical characterization of the novel tau mutation P332S.Semantic proximity Read ↗

The role of tau (MAPT) in frontotemporal dementia and related tauopathies.Semantic proximity Read ↗

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

Clinical and Pathological Features of FTDP-17 with MAPT p.K298_H299insQ Mutation.Semantic proximity Read ↗

Genetics of Frontotemporal Lobar DegenerationSemantic proximity Read ↗

Genetic forms of frontotemporal lobar degeneration: Current diagnostic approach and new directions in therapeutic strategies.Semantic proximity Read ↗

Clinical and Neuroimaging Aspects of Familial Frontotemporal Lobar Degeneration Associated with MAPT and GRN Mutations.Semantic proximity Read ↗

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

A novel MAPT mutation associated with the clinical phenotype of progressive nonfluent aphasia.Semantic proximity Read ↗

Recent advances in the molecular genetics of frontotemporal lobar degeneration.Semantic proximity Read ↗

Frontotemporal lobar degeneration: old knowledge and new insight into the pathogenetic mechanisms of tau mutationsSemantic proximity Read ↗

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