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

A molecular perspective of gelsolin amyloidosis: An old foe with new faces.

Cellular and molecular life sciences : CMLS - 15 Mar 2026

Bollati Michela, Natale Carmina, Girois Loic, Conz Andrea, Peqini Kaliroi, Pieraccini Stefano, Pellegrino Sara, Diomede Luisa, de Rosa Matteo

Abstract excerpt

Hereditary gelsolin amyloidosis (AGel) is a rare and often underrecognized protein misfolding disorder caused by mutations in the gelsolin (GSN) protein, leading to its aggregation in various tissues. Its rarity, combined with a heterogeneous and complex clinical presentation and the multidomain, flexible nature of GSN, has impeded research into its pathogenic mechanisms and therapeutic options. GSN comprises six...

Read the complete abstract on PubMed

Topics

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

Share to Amyloidosis
Share to Amyloidosis, Familial

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Gelsolin

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 41832348
DOI: 10.1007/s00018-026-06172-7
PMCID: PMC13013752

Genes

GSN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 15 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A molecular perspective of gelsolin amyloidosis: An old foe with new faces.PMID 41832348Read ↗

Gelsolin-related familial amyloidosis, Finnish type (FAF), and its variants found worldwide.Semantic proximity Read ↗

Atypical Presentation of Gelsolin Amyloidosis in a Man of African Descent with a Novel Mutation in the Gelsolin Gene.Semantic proximity Read ↗

Clinical, histopathological, and in silico pathogenicity analyses in a pedigree with familial amyloidosis of the Finnish type (Meretoja syndrome) caused by a novel gelsolin mutation.Semantic proximity Read ↗

Clinical and genetic features of AGel amyloidosis caused by novel gelsolin variant and its impact on cardiac function and conduction disordersSemantic proximity Read ↗

Clinical and Histopathological Features of Gelsolin Amyloidosis Associated with a Novel GSN Variant p.Glu580Lys.Semantic proximity Read ↗

Gelsolin pathogenic Gly167Arg mutation promotes domain-swap dimerization of the protein.Semantic proximity Read ↗

An ER-directed gelsolin nanobody targets the first step in amyloid formation in a gelsolin amyloidosis mouse model.Semantic proximity Read ↗

Secretion of amyloidogenic gelsolin progressively compromises protein homeostasis leading to the intracellular aggregation of proteins.Semantic proximity Read ↗

Danish type gelsolin related amyloidosis: 654G-T mutation is associated with a disease pathogenetically and clinically similar to that caused by the 654G-A mutation (familial amyloidosis of the Finnish type)Semantic proximity Read ↗

Exploring clinical variability in gelsolin amyloidosis: Brazilian family case study with confocal microscopy.Semantic proximity Read ↗

The Gelsolin Pathogenic D187N Mutant Exhibits Altered Conformational Stability and Forms Amyloidogenic Oligomers.Semantic proximity Read ↗

Genetic and structural aspects of amyloid diseases.Semantic proximity Read ↗

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