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Article

Presence of N-glycosylated transthyretin in plasma of V30M carriers in familial amyloidotic polyneuropathy: an escape from ERAD.

Journal of cellular and molecular medicine - 1 Mar 2013

Teixeira Anabela C, Saraiva Maria J

Abstract excerpt

Familial amyloid polyneuropathy (FAP) is an autosomal dominant disease characterized by deposition of amyloid related to the presence of mutations in the transthyretin (TTR) gene. TTR is mainly synthesized in liver, choroid plexuses of brain and pancreas and secreted to plasma and cerebrospinal fluid (CSF). Although it possesses a sequon for N-glycosylation N-D-S at position 98, it is not secreted as a...

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Share to Amyloid Neuropathies, Familial
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase

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Share to Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization

Source

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Identifiers

PMID: 23387326
DOI: 10.1111/jcmm.12024
PMCID: PMC3823024

Genes

TTR
FAP

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.

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